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1. The Etiologic Landscape of Lymphoproliferation in Childhood: Proposal for a Diagnostic Approach Exploring from Infections to Inborn Errors of Immunity and Metabolic Diseases

Author

Costagliola G, De Marco E, Massei F, Roberti G, Catena F, Casazza G, and Consolini R

Subjects
lymphadenopathy, splenomegaly, hodgkin lymphoma, common variable immunodeficiency, autoimmune lymphoproliferative syndrome, gaucher disease, Therapeutics. Pharmacology, RM1-950
Abstract

Giorgio Costagliola,1 Emanuela De Marco,1 Francesco Massei,1 Giulia Roberti,2 Fabrizio Catena,1 Gabriella Casazza,1 Rita Consolini3 1Section of Pediatric Hematology and Oncology, Azienda Ospedaliero-Universitaria Pisana, Pisa, 56126, Italy; 2Pediatrics Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, 56126, Italy; 3Section of Clinical and Laboratory Immunology, Pediatric Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, 56126, ItalyCorrespondence: Giorgio Costagliola, Section of Pediatric Hematology and Oncology, Azienda Ospedaliero-Universitaria Pisana, Pisa, 56126, Italy, Tel +39-050992841, Email giorgio.costagliola@hotmail.com; giorgio.costagliola@ao-pisa.toscana.itAbstract: Lymphoproliferation is defined by lymphadenopathy, splenomegaly, hepatomegaly, or lymphocytic organ and tissue infiltration. The most common etiologies of lymphoproliferation are represented by infectious diseases and lymphoid malignancies. However, it is increasingly recognized that lymphoproliferative features can be the presenting sign of rare conditions, including inborn errors of immunity (IEI) and inborn errors of metabolism (IEM). Among IEI, lymphoproliferation is frequently observed in autoimmune lymphoproliferative syndrome (ALPS) and related disorders, common variable immunodeficiency (CVID), activated phosphoinositide 3-kinase δ syndrome, and Epstein-Barr virus (EBV)-related disorders. Gaucher disease and Niemann-Pick disease are the most common IEMs that can present with isolated lymphoproliferative features. Notably, other rare conditions, such as sarcoidosis, Castleman disease, systemic autoimmune diseases, and autoinflammatory disorders, should be considered in the differential diagnosis of patients with persistent lymphoproliferation when infectious and malignant diseases have been reasonably ruled out. The clinical features of lymphoproliferative diseases, as well as the associated clinical findings and data deriving from imaging and first-level laboratory investigations, could significantly help in providing the correct diagnostic suspicion for the underlying etiology. This paper reviews the most relevant diseases associated with lymphoproliferation, including infectious diseases, hematological malignancies, IEI, and IEM. Moreover, some practical indications to orient the initial diagnostic process are provided, and two diagnostic algorithms are proposed for the first-level assessment and the approach to persistent lymphoproliferation, respectively.Keywords: lymphadenopathy, splenomegaly, Hodgkin lymphoma, common variable immunodeficiency, autoimmune lymphoproliferative syndrome, gaucher disease

Published
2024

2. Clinical features, treatment and outcomes of Italian children with enthesitis related arthritis and juvenile psoriatic arthritis: a cross-sectional cohort study

Author

Rebollo-Giménez, Ai, Rosina, S, Natoli, V, Burrone, M, Barone, P, Campus, S, Civino, A, Consolini, R, Filocamo, G, Gallizzi, R, Gattinara, M, La Torre, F, Maggio, Mc, Magni-Manzoni, S, Magnolia, Mg, Miniaci, A, Montin, D, Pastore, S, Petaccia, A, Pieropan, S, Rigante, Donato, Simonini, G, Ridella, F, Orsi, Sm, Angioloni, S, Carlini, L, Ruperto, N, Consolaro, A, Rigante D (ORCID:0000-0001-7032-7779), Rebollo-Giménez, Ai, Rosina, S, Natoli, V, Burrone, M, Barone, P, Campus, S, Civino, A, Consolini, R, Filocamo, G, Gallizzi, R, Gattinara, M, La Torre, F, Maggio, Mc, Magni-Manzoni, S, Magnolia, Mg, Miniaci, A, Montin, D, Pastore, S, Petaccia, A, Pieropan, S, Rigante, Donato, Simonini, G, Ridella, F, Orsi, Sm, Angioloni, S, Carlini, L, Ruperto, N, Consolaro, A, and Rigante D (ORCID:0000-0001-7032-7779)

Abstract

Objectives: Limited information is available on the clinical features, treatment modalities and outcomes of the juvenile idiopathic arthritis (JIA) categories of enthesitis-related arthritis (ERA) and juvenile psoriatic arthritis (JPsA). This study was aimed to describe the characteristics of Italian children with ERA and JPsA and to compare them with those of patients with the other categories of JIA. Methods: Patients were part of a multinational sample included in a study aimed to investigate the prevalence of disease categories, treatment approaches, and disease status in patients from across different geographical areas (EPOCA Study). All patients underwent a retrospective assessment, based on the review of clinical chart, and a cross-sectional evaluation, which included assessment of physician- and parent-reported outcomes and laboratory tests, and recording of ongoing therapies. Results: Of the 9081 children with JIA enrolled in the EPOCA Study, 1300 were recruited at 18 paediatric rheumatology centres in Italy. 45 (3.5%) had ERA and 49 (3.8%) had JPsA. Several remarkable differences in demographic features and frequency of articular and extra-articular manifestations, disease damage, impairment in physical function and health-related quality of life, school-related problems, comorbidities, and ongoing treatments were observed between ERA and JPsA and the other JIA categories. Conclusions: We described the characteristics of Italian children with ERA and JPsA and highlighted their peculiarities and their differences from the other JIA subsets. These data provide useful insights for future revisions of JIA classification and a benchmarking against which the features from other cohorts may be compared.

Published
2024

4. Behçet’s Disease in Children: Diagnostic and Management Challenges

Author

Costagliola G, Cappelli S, and Consolini R

Subjects
behçet's disease, apthosis, differential diagnosis, autoinflammatory diseases, autoimmunity, biologic drugs, Therapeutics. Pharmacology, RM1-950
Abstract

Giorgio Costagliola, Susanna Cappelli, Rita Consolini Laboratory of Immunology, Department of Clinical and Experimental Medicine, Division of Pediatrics, University of Pisa, Pisa, ItalyCorrespondence: Giorgio Costagliola Email giorgio.costagliola@hotmail.comAbstract: Behçet’s Disease (BD) is an inflammatory disease of unknown etiology with multisystemic involvement, being the main clinical manifestations represented by recurrent oral and genital ulcerations and uveitis. The disease has typically a chronic-relapsing course and may cause significant morbidity and mortality due to eye, vascular and neurological involvement. Although BD is more frequently diagnosed in adulthood, the disease onset can also be in pediatric age. Pediatric-onset BD is commonly featured by an incomplete clinical picture, and therefore the diagnosis represents a considerable clinical challenge for the physicians. The first classification criteria for pediatric BD, based on a scoring system, have been proposed few years ago. This work focuses on the main difficulties concerning both the diagnostic approach and the treatment of BD in pediatric age. The recommendation for the treatment of pediatric BD has been recently updated and allowed a considerable improvement of the therapeutic strategies. In particular, the use of anti-TNFα drugs as a second-line option for refractory BD, and as a first-line treatment in severe ocular and neurological involvement, has demonstrated to be effective in improving the outcome of BD patients. The knowledge about the molecular pathogenesis is progressively increasing, showing that BD shares common features with autoimmune and autoinflammatory disorders, and thus leading to the use of new biologic agents targeting the main mediators involved in the determination of BD. Anti-IL-17, anti-IL-23, anti-IL-1 and anti-IL-6 agents have shown promising results for the treatment of refractory BD in clinical trials and will represent an important alternative for the therapeutic approach to the disease.Keywords: Behçet’s disease, aphtosis, differential diagnosis, autoinflammatory diseases, autoimmunity, biologic drugs

Published
2020

5. IPINeT Ped-unPAD Study: Goals, Design, and Preliminary Results.

Author

Sgrulletti M, Baselli LA, Castagnoli R, Del Duca E, Graziani S, Moscato GMF, Di Cesare S, Di Matteo G, Cifaldi C, Rossano M, Ballerini C, Piciocchi A, Licari A, Marseglia GL, Consolini R, and Moschese V

Abstract

Background: An unclassified primary antibody deficiency (unPAD) is a widely heterogeneous clinical entity, recently identified within the spectrum of Inborn Errors of Immunity (IEIs). Since unPAD has been traditionally considered as a mild condition, it has incorrectly received little attention, resulting in the paucity of extensive and comparable studies describing its natural history. To address the gaps in characterizing, understanding, and managing pediatric unPAD patients, the Italian Primary Immunodeficiency Network (IPINet) Ped-unPAD study has recently been launched. Methods: Seventeen IPINeT Centers have expressed interest to participate, and data collection is still on-going. Hereby, we anticipate preliminary key issues emerging from the first 110 enrolled patients, attending three IPINet Centers. Results: A proportion of unPAD patients have experienced a severe infectious phenotype, which required hospitalization in a quarter of patients and antibiotic prophylaxis or Immunoglobulin Replacement Therapy in approximately 10% of patients. In this partial cohort, a mean follow-up (FU) of 5 years confirmed unPAD diagnosis in fifty percent of cases, with the remaining being reclassified as the Transient Hypogammaglobulinemia of Infancy (25%) and other IEIs (25%), such as a Common Variable Immunodeficiency, Selective IgA deficiency, Selective IgM deficiency, and IgG3 subclass deficiency. Conclusions: Despite a phenotype overlap at diagnosis, clinicians should be aware that unPAD is a mutable condition that deserves comprehensive evaluation and long-term monitoring to dissect the final diagnosis for optimal treatment.

Published
2024
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6. Case Report: Efficacy, safety, and favorable long-term outcome of early treatment with IL-1 inhibitors in a patient with chronic infantile neurological cutaneous articular (CINCA) syndrome caused by NLRP3 mosaicism.

Author

Costagliola G, D'Elios S, Cappelli S, Massei F, Maestrini G, Beni A, Peroni D, and Consolini R

Abstract

Chronic infantile neurological cutaneous articular (CINCA) syndrome is an autoinflammatory disease encompassed in the group of cryopyrin-associated periodic syndromes (CAPS). Patients suffering from CINCA have an elevated risk of developing chronic sequelae, including deforming arthropathy, chronic meningitis, neurodevelopmental delay, and neurosensorial hearing loss. The diagnosis of CINCA presents several difficulties, as the clinical phenotype could be difficult to recognize, and almost half of the patients have negative genetic testing. In this paper, we describe the case of a patient presenting with the typical phenotype of neonatal-onset CINCA who resulted negative for NLRP3 mutations. Based on the clinical judgment, the patient underwent treatment with anti-interleukin-1 (IL-1) agents (anakinra and, later, canakinumab) resulting in a complete clinical and laboratory response that allowed confirmation of the diagnosis. Additional genetic investigations performed after the introduction of anti-IL-1 therapy revealed a pathogenic mosaicism in the NLRP3 gene. After a 12-year follow-up, the patient has not experienced chronic complications. Although genetics is rapidly progressing, this case highlights the importance of early diagnosis of CINCA patients when the clinical and laboratory picture is highly suggestive in order to start the appropriate anti-cytokine treatment even in the absence of a genetic confirmation., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision., (© 2024 Costagliola, D'Elios, Cappelli, Massei, Maestrini, Beni, Peroni and Consolini.)

Published
2024
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7. Off-label use of combined antiretroviral therapy, analysis of data collected by the Italian Register for HIV-1 infection in paediatrics in a large cohort of children

Author

Chiappini, E., Lisi, C., Giacomet, V., Erba, P., Bernardi, S., Zangari, P., Di Biagio, A., Taramasso, L., Giaquinto, C., Rampon, O., Gabiano, C., Garazzino, S., Tagliabue, C., Esposito, S., Bruzzese, E., Badolato, R., Zanaboni, D., Cellini, M., Dedoni, M., Mazza, A., Pession, A., Giannini, A. M., Salvini, F., Dodi, I., Carloni, I., Cazzato, S., Tovo, P. A., de Martino, M., Galli, L., Parigi, S., Orlandi, F., de Martino, A., Pinzani, R., Abbagnato, L., Ruggeri, M., Baldi, F., Faldella, G., Chiriaco, P., Dessi, C., Panto, M. G., Anastasio, E., Govoni, M. R., Bigi, M., Bondi, E., Borea, R., Cenderello, G., Tommasi, D., Nogare, E. R. D., Saitta, M., Felici, L., Consolini, R., Antonellini, A., Anzidei, G., Genovese, O., Catania, S., Natale, F., Olmeo, P., Cristiano, L., Portelli, V., Rabusin, M., Di Pietro, G. M., Fabrizio, L., Chiappini, Elena, Lisi, Catiuscia, Giacomet, Vania, Erba, Paola, Bernardi, Stefania, Zangari, Paola, Di Biagio, Antonio, Taramasso, Lucia, Giaquinto, Carlo, Rampon, Osvalda, Gabiano, Clara, Garazzino, Silvia, Tagliabue, Claudia, Esposito, Susanna, Bruzzese, Eugenia, Badolato, Raffaele, Zanaboni, Domenico, Cellini, Monica, Dedoni, Maurizio, Mazza, Antonio, Pession, Andrea, Giannini, Anna Maria, Salvini, Filippo, Dodi, Icilio, Carloni, Ine, Cazzato, Salvatore, Tovo, Pier Angelo, de Martino, Maurizio, and Galli, Luisa

Subjects
Register (sociolinguistics), Pediatrics, medicine.medical_specialty, HAART, Adolescent, Anti-HIV Agents, Off-label therapy, Human immunodeficiency virus (HIV), HIV Infections, Infectious and parasitic diseases, RC109-216, HIV-1 infection, medicine.disease_cause, Off-label use, Retrospective Studie, Antiretroviral Therapy, Highly Active, medicine, Humans, Highly Active, HIV Infection, Child, Children, Antiretroviral therapy, CD4 Lymphocyte Count, Off-Label Use, Retrospective Studies, Viral Load, HIV-1, business.industry, Research, Anti-HIV Agent, virus diseases, Large cohort, Infectious Diseases, business, Human
Abstract

Background Early start of highly active antiretroviral therapy (HAART) in perinatally HIV-1 infected children is the optimal strategy to prevent immunological and clinical deterioration. To date, according to EMA, only 35% of antiretroviral drugs are licenced in children Methods An observational retrospective study investigating the rate and the outcomes of off-label prescription of HAART was conducted on 225 perinatally HIV-1 infected children enrolled in the Italian Register for HIV Infection in Children and followed-up from 2001 to 2018. Results 22.2% (50/225) of included children were receiving an off-label HAART regimen at last check. Only 26% (13/50) of off-label children had an undetectable viral load (VL) before the commencing of the regimen and the 52.0% (26/50) had a CD4 + T lymphocyte percentage > 25%. At last check, during the off label regimen, the 80% (40/50) of patients had an undetectable VL, and 90% (45/50) of them displayed CD4 + T lymphocyte percentage > 25%. The most widely used off-label drugs were: dolutegravir/abacavir/lamivudine (16%; 8/50), emtricitbine/tenofovir disoproxil (22%; 11/50), lopinavir/ritonavir (20%; 10/50) and elvitegravir/cobicistat/emtricitabine/ tenofovir alafenamide (10%; 10/50). At logistic regression analysis, detectable VL before starting the current HAART regimen was a risk factor for receiving an off-label therapy (OR: 2.41; 95% CI 1.13–5.19; p = 0.024). Moreover, children Conclusion The prescription of an off-label HAART regimen in perinatally HIV-1 infected children was common, in particular in children with detectable VL despite previous HAART and in younger children, especially those receiving their first regimen. Our data suggest similar proportions of virological and immunological successes at last check among children receiving off-label or on-label HAART. Larger studies are needed to better clarify efficacy and safety of off-label HAART regimens in children, in order to allow the enlargement of on-label prescription in children.

Published
2022

8. Musculoskeletal manifestations of childhood cancer and differential diagnosis with juvenile idiopathic arthritis (ONCOREUM): a multicentre, cross-sectional study

Author

Civino, A, Alighieri, G, Prete, E, Caroleo, A, Magni-Manzoni, S, Vinti, L, Romano, M, Santoro, N, Filocamo, G, Belotti, T, Santarelli, F, Gorio, C, Ricci, F, Colombini, A, Pastore, S, Cesaro, S, Barone, P, Verzegnassi, F, Olivieri, A, Ficara, M, Miniaci, A, Russo, G, Gallizzi, R, Pericoli, R, Breda, L, Mura, R, Podda, R, Onofrillo, D, Lattanzi, B, Tirtei, E, Maggio, M, De Santis, R, Consolini, R, Arlotta, A, La Torre, F, Mainardi, C, Pelagatti, M, Coassin, E, Capolsini, I, Burnelli, R, Tornesello, A, Soscia, F, De Fanti, A, Rigante, D, Pizzato, C, De Fusco, C, Abate, M, Roncadori, A, Rossi, E, Stabile, G, Biondi, A, Lepore, L, Conter, V, Rondelli, R, Pession, A, Ravelli, A, Amatruda, M, Atzeni, C, Bertolini, P, Bigucci, B, Caniglia, M, Cappella, M, Cattalini, M, Cefalo, M, Cellini, M, Cortis, E, Davi, S, De Benedetti, F, Di Cataldo, A, Fabbri, E, Fagioli, F, Fontanili, I, Garaventa, A, Gicchino, M, Ladogana, S, Locatelli, F, Magnolato, A, Marsili, M, Martino, S, Mascarin, M, Messina, C, Micalizzi, C, Porta, F, Rizzari, C, Civino A., Alighieri G., Prete E., Caroleo A. M., Magni-Manzoni S., Vinti L., Romano M., Santoro N., Filocamo G., Belotti T., Santarelli F., Gorio C., Ricci F., Colombini A., Pastore S., Cesaro S., Barone P., Verzegnassi F., Olivieri A. N., Ficara M., Miniaci A., Russo G., Gallizzi R., Pericoli R., Breda L., Mura R., Podda R. A., Onofrillo D., Lattanzi B., Tirtei E., Maggio M. C., De Santis R., Consolini R., Arlotta A., La Torre F., Mainardi C., Pelagatti M. A., Coassin E., Capolsini I., Burnelli R., Tornesello A., Soscia F., De Fanti A., Rigante D., Pizzato C., De Fusco C., Abate M. E., Roncadori A., Rossi E., Stabile G., Biondi A., Lepore L., Conter V., Rondelli R., Pession A., Ravelli A., Amatruda M., Atzeni C., Bertolini P., Bigucci B., Caniglia M., Cappella M., Cattalini M., Cefalo M. G., Cellini M., Cortis E., Davi S., De Benedetti F., Di Cataldo A., Fabbri E., Fagioli F., Fontanili I., Garaventa A., Gicchino M. F., Ladogana S., Locatelli F., Magnolato A., Marsili M., Martino S., Mascarin M., Messina C., Micalizzi C., Porta F., Rizzari C., Civino, A, Alighieri, G, Prete, E, Caroleo, A, Magni-Manzoni, S, Vinti, L, Romano, M, Santoro, N, Filocamo, G, Belotti, T, Santarelli, F, Gorio, C, Ricci, F, Colombini, A, Pastore, S, Cesaro, S, Barone, P, Verzegnassi, F, Olivieri, A, Ficara, M, Miniaci, A, Russo, G, Gallizzi, R, Pericoli, R, Breda, L, Mura, R, Podda, R, Onofrillo, D, Lattanzi, B, Tirtei, E, Maggio, M, De Santis, R, Consolini, R, Arlotta, A, La Torre, F, Mainardi, C, Pelagatti, M, Coassin, E, Capolsini, I, Burnelli, R, Tornesello, A, Soscia, F, De Fanti, A, Rigante, D, Pizzato, C, De Fusco, C, Abate, M, Roncadori, A, Rossi, E, Stabile, G, Biondi, A, Lepore, L, Conter, V, Rondelli, R, Pession, A, Ravelli, A, Amatruda, M, Atzeni, C, Bertolini, P, Bigucci, B, Caniglia, M, Cappella, M, Cattalini, M, Cefalo, M, Cellini, M, Cortis, E, Davi, S, De Benedetti, F, Di Cataldo, A, Fabbri, E, Fagioli, F, Fontanili, I, Garaventa, A, Gicchino, M, Ladogana, S, Locatelli, F, Magnolato, A, Marsili, M, Martino, S, Mascarin, M, Messina, C, Micalizzi, C, Porta, F, Rizzari, C, Civino A., Alighieri G., Prete E., Caroleo A. M., Magni-Manzoni S., Vinti L., Romano M., Santoro N., Filocamo G., Belotti T., Santarelli F., Gorio C., Ricci F., Colombini A., Pastore S., Cesaro S., Barone P., Verzegnassi F., Olivieri A. N., Ficara M., Miniaci A., Russo G., Gallizzi R., Pericoli R., Breda L., Mura R., Podda R. A., Onofrillo D., Lattanzi B., Tirtei E., Maggio M. C., De Santis R., Consolini R., Arlotta A., La Torre F., Mainardi C., Pelagatti M. A., Coassin E., Capolsini I., Burnelli R., Tornesello A., Soscia F., De Fanti A., Rigante D., Pizzato C., De Fusco C., Abate M. E., Roncadori A., Rossi E., Stabile G., Biondi A., Lepore L., Conter V., Rondelli R., Pession A., Ravelli A., Amatruda M., Atzeni C., Bertolini P., Bigucci B., Caniglia M., Cappella M., Cattalini M., Cefalo M. G., Cellini M., Cortis E., Davi S., De Benedetti F., Di Cataldo A., Fabbri E., Fagioli F., Fontanili I., Garaventa A., Gicchino M. F., Ladogana S., Locatelli F., Magnolato A., Marsili M., Martino S., Mascarin M., Messina C., Micalizzi C., Porta F., and Rizzari C.

Abstract

Background: Presenting symptoms of childhood cancers might mimic those of rheumatic diseases. However, the evidence available to guide differential diagnosis remains scarce. Preventing wrong or delayed diagnosis is therefore important to avoid incorrect administration of glucocorticoid or immunosuppressive therapy and worsening of prognosis. As such, we aimed to assess the prevalence and characteristics of presenting musculoskeletal manifestations in patients at cancer onset and to identify the factors that differentiate childhood malignancies with arthropathy from juvenile idiopathic arthritis. Methods: We did a multicentre, cross-sectional study at 25 paediatric haemato-oncology centres and 22 paediatric rheumatology centres in Italy. We prospectively recruited patients who were younger than 16 years that were newly diagnosed with cancer or juvenile idiopathic arthritis. We excluded patients with glucocorticoid pre-treatment (>1 mg/kg per day of oral prednisone or equivalent for ≥2 consecutive weeks). We collected data for patients with a new diagnosis of cancer or juvenile idiopathic arthritis using an electronic case report form on a web-based platform powered by the Cineca Interuniversity Consortium. The primary outcome was to describe the frequency and characteristics of musculoskeletal manifestations at cancer onset; and the secondary outcome was to identify factors that could discriminate malignancies presenting with arthropathy, with or without other musculoskeletal symptoms, from juvenile idiopathic arthritis using multivariable logistic regression analysis. Findings: Between May 1, 2015, and May 31, 2018, 1957 patients were eligible, of which 1277 (65%) had cancer and 680 (35%) had juvenile idiopathic arthritis. Musculoskeletal symptoms occurred in 324 (25% [95% CI 23·0–27·8]) of 1277 patients with cancer, of whom 207 had arthropathy. Patients with malignant bone tumours had the highest frequency of musculoskeletal symptoms (53 [80%] of 66), followed b

Published
2021

9. The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019)

Author

Lougaris, V, Pession, A, Baronio, M, Soresina, A, Rondelli, R, Gazzurelli, L, Benvenuto, A, Martino, S, Gattorno, M, Biondi, A, Zecca, M, Marinoni, M, Fabio, G, Aiuti, A, Marseglia, G, Putti, M, Agostini, C, Lunardi, C, Tommasini, A, Bertolini, P, Gambineri, E, Consolini, R, Matucci, A, Azzari, C, Danieli, M, Paganelli, R, Duse, M, Cancrini, C, Moschese, V, Chessa, L, Spadaro, G, Civino, A, Vacca, A, Cardinale, F, Martire, B, Carpino, L, Trizzino, A, Russo, G, Cossu, F, Badolato, R, Pietrogrande, M, Quinti, I, Rossi, P, Ugazio, A, Pignata, C, Plebani, A, Lougaris V., Pession A., Baronio M., Soresina A., Rondelli R., Gazzurelli L., Benvenuto A., Martino S., Gattorno M., Biondi A., Zecca M., Marinoni M., Fabio G., Aiuti A., Marseglia G., Putti M. C., Agostini C., Lunardi C., Tommasini A., Bertolini P., Gambineri E., Consolini R., Matucci A., Azzari C., Danieli M. G., Paganelli R., Duse M., Cancrini C., Moschese V., Chessa L., Spadaro G., Civino A., Vacca A., Cardinale F., Martire B., Carpino L., Trizzino A., Russo G., Cossu F., Badolato R., Pietrogrande M. C., Quinti I., Rossi P., Ugazio A., Pignata C., Plebani A., Lougaris, V, Pession, A, Baronio, M, Soresina, A, Rondelli, R, Gazzurelli, L, Benvenuto, A, Martino, S, Gattorno, M, Biondi, A, Zecca, M, Marinoni, M, Fabio, G, Aiuti, A, Marseglia, G, Putti, M, Agostini, C, Lunardi, C, Tommasini, A, Bertolini, P, Gambineri, E, Consolini, R, Matucci, A, Azzari, C, Danieli, M, Paganelli, R, Duse, M, Cancrini, C, Moschese, V, Chessa, L, Spadaro, G, Civino, A, Vacca, A, Cardinale, F, Martire, B, Carpino, L, Trizzino, A, Russo, G, Cossu, F, Badolato, R, Pietrogrande, M, Quinti, I, Rossi, P, Ugazio, A, Pignata, C, Plebani, A, Lougaris V., Pession A., Baronio M., Soresina A., Rondelli R., Gazzurelli L., Benvenuto A., Martino S., Gattorno M., Biondi A., Zecca M., Marinoni M., Fabio G., Aiuti A., Marseglia G., Putti M. C., Agostini C., Lunardi C., Tommasini A., Bertolini P., Gambineri E., Consolini R., Matucci A., Azzari C., Danieli M. G., Paganelli R., Duse M., Cancrini C., Moschese V., Chessa L., Spadaro G., Civino A., Vacca A., Cardinale F., Martire B., Carpino L., Trizzino A., Russo G., Cossu F., Badolato R., Pietrogrande M. C., Quinti I., Rossi P., Ugazio A., Pignata C., and Plebani A.

Abstract

Primary immunodeficiencies (PIDs) are heterogeneous disorders, characterized by variable clinical and immunological features. National PID registries offer useful insights on the epidemiology, diagnosis, and natural history of these disorders. In 1999, the Italian network for primary immunodeficiencies (IPINet) was established. We report on data collected from the IPINet registry after 20 years of activity. A total of 3352 pediatric and adult patients affected with PIDs are registered in the database. In Italy, a regional distribution trend of PID diagnosis was observed. Based on the updated IUIS classification of 2019, PID distribution in Italy showed that predominantly antibody deficiencies account for the majority of cases (63%), followed by combined immunodeficiencies with associated or syndromic features (22.5%). The overall age at diagnosis was younger for male patients. The minimal prevalence of PIDs in Italy resulted in 5.1 per 100.000 habitants. Mortality was similar to other European registries (4.2%). Immunoglobulin replacement treatment was prescribed to less than one third of the patient cohort. Collectively, this is the first comprehensive description of the PID epidemiology in Italy.

Published
2020

10. Distinct Immunophenotypic Features in Patients Affected by 22q11.2 Deletion Syndrome with Immune Dysregulation and Infectious Phenotype.

Author

Costagliola G, Legitimo A, Bertini V, Alberio AMQ, Valetto A, and Consolini R

Abstract

The clinical expression of 22q11.2 deletion syndrome (22q11.2 DS) is extremely variable, as patients can present with recurrent or severe infections, immune dysregulation, atopic diseases, or extra-immunological manifestations. The immunological background underlying the different disease manifestations is not completely elucidated. The aim of this study was to identify the immunophenotypic peculiarities of 22q11.2 DS patients presenting with different disease expressions. This study included 34 patients with 22q11.2 DS, divided into three groups according to the clinical phenotype: isolated extra-immunological manifestations (G1), infectious phenotype with increased/severe infections (G2), and immune dysregulation (G3). The patients underwent extended immunophenotyping of the T and B lymphocytes and analysis of the circulating dendritic cells (DCs). In patients with an infectious phenotype, a significant reduction in CD3+ and CD4+ cells and an expansion of CD8 naïve cells was evidenced. On the other hand, the immunophenotype of the patients with immune dysregulation showed a skewing toward memory T cell populations, and reduced levels of recent thymic emigrants (RTEs), while the highest levels of RTEs were detected in the patients with isolated extra-immunological manifestations. This study integrates the current literature, contributing to elucidating the variability in the immune status of patients with 22q11.2DS with different phenotypic expressions, particularly in those with infectious phenotype and immune dysregulation.

Published
2023
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11. Prevalence and Clinical Outcomes of Poor Immune Response Despite Virologically Suppressive Antiretroviral Therapy Among Children and Adolescents With Human Immunodeficiency Virus in Europe and Thailand: Cohort Study

Author

Chappell, E., Riordan, A., Jourdain, G., Soriano-Arandes, A., Ene, L., Scherpbier, H., Warszawski, J., Collins, I., Smit, C., Marques, L., Klein, N., Guillén, S., Judd, A., Thorne, C., Goodall, R., Königs, C., Spoulou, V., Prata, F., Goetghebuer, T., Chiappini, E., Galli, L., Naver, L., Giaquinto, C., Gibb, D., Marczynska, M., Okhonskaia, L., Klimkait, T., Lallemant, M., Ngo-Giang-Huong, N., Kiseleva, G., Malyuta, R., Volokha, A., Hainaut, M., Delforge, M., Le Chenadec, J., Ramos, E., Dialla, O., Wack, T., Laurent, C., Ait Si Selmi, L., Leymarie, I., Ait Benali, F., Brossard, M., Boufassa, L., Floch-Tudal, C., Firtion, G., Hau, I., Chace, A., Bolot, P., Blanche, S., Levine, M., Bicëtre, L., Fourcade, C., Heller-Roussin, B., Runel-Belliard, C., Tricoire, J., Chirouze, C., Reliquet, V., Brouard, J., Kebaili, K., Fialaire, P., Lalande, M., Schultze-Strasser, S., Baumann, U., Niehues, T., Neubert, J., Kobbe, R., Berlin, C., Feiterna-Sperling, C., Buchholz, B., Notheis, G., de Martino, M., Angelo Tovo, P., Patrizia, O., Larovere, D., Ruggeri, M., Faldella, G., Baldi, F., Badolato, R., Montagnani, C., Venturini, E., Lisi, C., Di Biagio, A., Taramasso, L., Giacomet, V., Erba, P., Esposito, S., Lipreri, R., Salvini, F., Tagliabue, C., Cellini, M., Bruzzese, E., Lo Vecchio, A., Rampon, O., Donà, D., Romano, A., Dodi, I., Maccabruni, A., Consolini, R., Bernardi, S., Tchidjou Kuekou, H., Genovese, O., Olmeo, P., Cristiano, L., Mazza, A., Gabiano, C., Garazzino, S., Pellegatta, A., Pajkrt, D., Weijsenfeld, A., de Boer CG, Jurriaans, S., Back, N., Zaaijer, H., Berkhout, B., Cornelissen, M., Schinkel, C., Wolthers, K., Fraaij, P., van Rossum AMC, van der Knaap LC, Visser, E., Koopmans, M., van Kampen JJA, Pas, S., Henriet, S., van de Flier, M., van Aerde, K., Strik-Albers, R., Rahamat-Langendoen, J., Stelma, F., Schölvinck, E., de Groot-de Jonge, H., Niesters, H., van Leer-Buter CC, Knoester, M., Bont, L., Geelen, S., Wolfs, T., Nauta, N., Ang, C., van Houdt, R., Pettersson, A., Vandenbroucke-Grauls, C., Reiss, P., Bezemer, D., van Sighem AI, Wit, F., Boender, T., Zaheri, S., Hillebregt, M., de Jong, A., Bergsma, D., Grivell, S., Jansen, A., Raethke, M., Meijering, R., de Groot, L., van den Akker, M., Bakker, Y., Claessen, E., El Berkaoui, A., Koops, J., Kruijne, E., Lodewijk, C., Munjishvili, L., Peeck, B., Ree, C., Regtop, R., Ruijs, Y., Rutkens, T., Schoorl, M., Timmerman, A., Tuijn, E., Veenenberg, L., van der Vliet, S., Wisse, A., Woudstra, T., Tuk, B., Popielska, J., Pokorska-Śpiewak, M., Ołdakowska, A., Zawadka, K., Coupland, U., DorobaLaura Marques, M., Teixeira, C., Fernandes, A., Voronin, E., Miloenko, M., Labutina, S., Tomás Ramos, J., Prieto, L., Luisa Navarro, M., Saavedra, J., Santos, M., Angeles Muñoz, M., Ruiz, B., Mc Phee CF, de Ory SJ, Alvarez, S., Ángel Roa, M., Beceiro, J., Martínez, J., Badillo, K., Apilanez, M., Pocheville, I., Garrote, E., Colino, E., Gómez Sirvent, J., Garzón, M., Román, V., Montesdeoca, A., Mateo, M., José Muñoz, M., Angulo, R., Neth, O., Falcón, L., Terol, P., Luis Santos, J., Moreno, D., Lendínez, F., Grande, A., José Romero, F., Lillo, M., Losada, B., Herranz, M., Bustillo, M., Guerrero, C., Collado, P., Antonio Couceiro, J., Pérez, A., Isabel Piqueras, A., Bretón, R., Segarra, I., Gavilán, C., Jareño, E., Montesinos, E., Dapena, M., Álvarez, C., Gloria Andrés, A., Marugán, V., Ochoa, C., Alfayate, S., Isabel Menasalvas, A., de Miguel, E., Aebi-Popp, K., Asner, S., Aubert, V., Battegay, M., Baumann, M., Bernasconi, E., Böni, J., Brazzola, P., Bucher, H., Calmy, A., Cavassini, M., Ciuffi, A., Duppenthaler, A., Dollenmaier, G., Egger, M., Elzi, L., Fehr, J., Fellay, J., Francini, K., Furrer, H., Fux, C., Grawe, C., Günthard, H., Haerry, D., Hasse, B., Hirsch, H., Hoffmann, M., Hösli, I., Kahlert, C., Kaiser, L., Keiser, O., Kovari, H., Kouyos, R., Ledergerber, B., Martinetti, G., de Tejada BM, Metzner, K., Müller, N., Nicca, D., Paioni, P., Pantaleo, G., Polli, C., Posfay-Barbe, K., Rauch, A., Rudin, C., Schmid, P., Scherrer, A., Speck, R., Tarr, P., Thanh Lecompte, M., Trkola, A., Vernazza, P., Wagner, N., Wandeler, G., Weber, R., Wyler, C., Yerly, S., Techakunakorn, P., Hansudewechakul, R., Kham, C., Wanchaitanawong, V., Theansavettrakul, S., Sai, M., Nanta, S., Ngampiyaskul, C., Phanomcheong, S., Hongsiriwon, S., Karnchanamayul, W., Kwanchaipanich, R., Kanjanavanit, S., Kamonpakorn, N., Nantarukchaikul, M., Layangool, P., Mekmullica, J., Lucksanapisitkul, P., Watanayothin, S., Lertpienthum, N., Warachit, B., Hanpinitsak, S., Potchalongsin, S., Thanasiri, P., Krikajornkitti, S., Attavinijtrakarn, P., Srirojana, S., Bunjongpak, S., Puangsombat, A., Na-Rajsima, S., Ananpatharachai, P., Akarathum, N., Phuket, V., Lawtongkum, W., Kheunjan, P., Suriyaboon, T., Saipanya, A., Than-In-At, K., Jaisieng, N., Suaysod, R., Chailoet, S., Naratee, N., Kawilapat, S., Kaleeva, T., Baryshnikova, Y., Soloha, S., Bashkatova, N., Raus, I., Glutshenko, O., Ruban, Z., Prymak, N., Bailey, H., Bamford, A., Butler, K., Doerholt, K., Doherty, C., Foster, C., Francis, K., Harrison, I., Kenny, J., Letting, G., Mcmaster, P., Murau, F., Nsangi, E., Peters, H., Prime, K., Shackley, F., Shingadia, D., Storey, S., Tudor-Williams, G., Turkova, A., Welch, S., Jeannie Collins, I., Cook, C., Crichton, S., Dobson, D., Fairbrother, K., M Gibb D, Harper, L., Le Prevost, M., Van Looy, N., Walsh, A., Thrasyvoulou, L., Bernatoniene, J., Manyika, F., Sharpe, G., Subramaniam, B., Sloper, K., Fidler, K., Hague, R., Price, V., Clapson, M., Flynn, J., Cardoso, A., Abou-Rayyah, M., Gurtin, D., Yeadon, S., Segal, S., Ball, C., Hawkins, S., Dowie, M., Bandi, S., Percival, E., Eisenhut, M., Duncan, K., Clough, S., Anguvaa, L., Conway, S., Flood, T., Pickering, A., Murphy, C., Daniels, J., Lees, Y., Thompson, F., Williams, B., Pope, S., Cliffe, L., Smyth, A., Southall, S., Freeman, A., Freeman, H., Christie, S., Gordon, A., Rogahn, D., Clarke, L., Jones, L., Offerman, B., Greenberg, M., Benson, C., Ibberson, L., Faust, S., Hancock, J., Sharland, M., Lyall, H., Monrose, C., Seery, P., Menson, E., Callaghan, A., Bridgwood, A., Evans, J., Blake, E., Yannoulias, A., Critchton, S., Duff, C., Gomezpena, D., Lundin, R., Mangiarini, L., Nardone, A., Posfay Barbe, Klara, Universidad de Alcalá - University of Alcalá (UAH), Department of Sciences for Woman and Child's Health, Università degli Studi di Firenze = University of Florence (UniFI), Épidémiologie clinique, santé mère-enfant et VIH en Asie du Sud-Est (IRD_PHPT), Harvard University-Chiang Mai University (CMU), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier de Saint-Denis [Ile-de-France], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire Chrono-environnement (UMR 6249) (LCE), Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), service de maladies infectieuses CHU J Minjoz Besancon, Service des maladies infectieuses et tropicales [CHU Nantes], Centre hospitalier universitaire de Nantes (CHU Nantes), Service de Pédiatrie Médicale [Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service d'hématologie : Immuno-Hématologie pédiatrique et transplantation de moelle osseuse, Hôpital Debrousse, Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Universitätsklinikum Frankfurt, Infectious Diseases, San Martino Hospital, Università degli studi di Genova = University of Genoa (UniGe), Department of Maternal and Pediatric Sciences, University of Milan, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Maternal-Infantile Department, Unit of Paediatrics and Oncohematology, University Hospital of Parma, Department of Infectious Diseases, IRCCS S. Matteo, Department of Paediatrics, Università cattolica del Sacro Cuore = Catholic University of the Sacred Heart [Roma] (Unicatt), Dipartimento di Ingegneria [Benevento], Università degli Studi del Sannio, University of Twente, Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Laboratory for Infectious Diseases and Perinatal Screening, Center for Infectious Disease Control, National Institute for Public Health and the Environment [Bilthoven] (RIVM), Architecture et réactivité de l'ARN (ARN), Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS), Synthèse, Structure et Propriétés de Matériaux Fonctionnels (STEP), SYstèmes Moléculaires et nanoMatériaux pour l’Energie et la Santé (SYMMES), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Département Interfaces pour l'énergie, la Santé et l'Environnement (DIESE), Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Stichting HIV Monitoring, Universidade Federal do Ceará = Federal University of Ceará (UFC), Departamento de Química Orgánica, Universidade de Vigo, Polytechnical University of Valencia, Fac Biol, Dept Genet, Universidad Complutense de Madrid = Complutense University of Madrid [Madrid] (UCM), University of the Basque Country/Euskal Herriko Unibertsitatea (UPV/EHU), Service des maladies infectieuses, Hôpitaux Universitaires de Genève (HUG), University of Basel (Unibas), Dysfonctions métaboliques et diabètes: Mécanismes et approches thérapeutiques, Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-IFR50-Institut National de la Santé et de la Recherche Médicale (INSERM), University Heart Centre Freiburg - Bad Krozingen, Prapokklao Hospital [Chanthaburi, Thailand], Nakornping Hospital [Chiang Mai, Thailand], Samutsakhon Hospital [Samutsakhon, Thailand], Kalasin Hospital [Kalasin, Thailand], Sanpatong Hospital [Chiang Mai, Thailand], Chiang Mai University (CMU), Microbiology Department, St. Jame's Hospital, University of Edinburgh, Infectious Diseases and Microbiology Unit, Great Ormond Street Hospital for Children [London] (GOSH)-Institute of Child Health, European Synchrotron Radiation Facility (ESRF), Centre for Ecology and Hydrology [Bangor] (CEH), Natural Environment Research Council (NERC), Jet Propulsion Laboratory (JPL), NASA-California Institute of Technology (CALTECH), University of London [London], London South Bank University (LSBU), Dipartimento di Pediatria, Azienda Ospedaliera di Padova, Université Grenoble Alpes - UFR Pharmacie (UGA UFRP), Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), The European Pregnancy and Paediatric HIV Cohort Collaboration (EPPICC) Study Group in EuroCoord, Florence University, Harvard University [Cambridge]-Chiang Mai University (CMU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Laboratoire Chrono-environnement - CNRS - UBFC (UMR 6249) (LCE), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), University of Genoa (UNIGE), Catholic University of Rome, University of Twente [Netherlands], Institut de Chimie du CNRS (INC)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), University of the Basque Country [Bizkaia] (UPV/EHU), Université Nice Sophia Antipolis (... - 2019) (UNS), Pediatrics, Virology, Chappell, Elizabeth, Riordan, Andrew, Jourdain, Gonzague, Soriano-Arandes, Antoni, Ene, Luminita, J Scherpbier, Henriette, Warszawski, Josiane, J Collins, Intira, Smit, Colette, Marques, Laura, Klein, Nigel, Guillén, Sara, Judd, Ali, Thorne, Claire, Goodall, Ruth, Königs, Christoph, Spoulou, Vana, Prata, Filipa, Goetghebuer, Tessa, Chiappini, Elena, Galli, Luisa, Naver, Lar, Giaquinto, Carlo, M Gibb, Diana, Marczynska, Magdalena, Okhonskaia, Liubov, Klimkait, Thoma, Lallemant, Marc, Ngo-Giang-Huong, Nicole, Kiseleva, Galyna, Malyuta, Ruslan, Volokha, Alla, Hainaut, Marc, Delforge, Marc, Le Chenadec, Jerome, Ramos, Elisa, Dialla, Olivia, Wack, Thierry, Laurent, Corine, Ait Si Selmi, Lamya, Leymarie, Isabelle, Ait Benali, Fazia, Brossard, Maud, Boufassa, Leila, Floch-Tudal, Corinne, Firtion, Ghislaine, Hau, Isabelle, Chace, Anne, Bolot, Pascal, Blanche, Stéphane, Levine, Martine, Kremlin Bicëtre, Le, Fourcade, Corinne, Heller-Roussin, Brigitte, Runel-Belliard, Camille, Tricoire, Joëlle, Chirouze, Catherine, Reliquet, Véronique, Brouard, Jacque, Kebaili, Kamila, Fialaire, Pascale, Lalande, Muriel, Schultze-Strasser, Stephan, Baumann, U, Niehues, T, Neubert, J, Kobbe, R, Berlin, Charite, Feiterna-Sperling, C, Königs, C, Buchholz, B, Notheis, G, de Martino, Maurizio, Angelo Tovo, Pier, Patrizia, Osimani, Larovere, Domenico, Ruggeri, Maurizio, Faldella, Giacomo, Baldi, Francesco, Badolato, Raffaele, Montagnani, Carlotta, Venturini, Elisabetta, Lisi, Catiuscia, Di Biagio, Antonio, Taramasso, Lucia, Giacomet, Vania, Erba, Paola, Esposito, Susanna, Lipreri, Rita, Salvini, Filippo, Tagliabue, Claudia, Cellini, Monica, Bruzzese, Eugenia, LO VECCHIO, Andrea, Paediatric Infectious Diseases / Rheumatology / Immunology, Amsterdam institute for Infection and Immunity, AII - Infectious diseases, Amsterdam Reproduction & Development (AR&D), APH - Aging & Later Life, Infectious diseases, and Global Health

Subjects
0301 basic medicine, medicine.medical_treatment, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], HIV Infections, Rate ratio, Cohort Studies, 0302 clinical medicine, Pregnancy, Antiretroviral Therapy, Highly Active, Prevalence, 030212 general & internal medicine, Child, poor immune response, ddc:618, Immunosuppression, Viral Load, Hepatitis B, Thailand, 3. Good health, Europe, Thailand/epidemiology, Infectious Diseases, Cohort, Coinfection, Female, Cohort study, Adult, Microbiology (medical), viral suppression, medicine.medical_specialty, Adolescent, Anti-HIV Agents, antiretroviral therapy, 030106 microbiology, Europe/epidemiology, 03 medical and health sciences, children, Acquired immunodeficiency syndrome (AIDS), SDG 3 - Good Health and Well-being, Internal medicine, medicine, Humans, HIV, Aged, Settore MED/38 - Pediatria Generale e Specialistica, business.industry, Immunity, medicine.disease, HIV Infections/drug therapy/epidemiology, CD4 Lymphocyte Count, lnfectious Diseases and Global Health Radboud Institute for Health Sciences [Radboudumc 4], Anti-HIV Agents/therapeutic use, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

Background In human immunodeficiency virus (HIV)–positive adults, low CD4 cell counts despite fully suppressed HIV-1 RNA on antiretroviral therapy (ART) have been associated with increased risk of morbidity and mortality. We assessed the prevalence and outcomes of poor immune response (PIR) in children receiving suppressive ART. Methods Sixteen cohorts from the European Pregnancy and Paediatric HIV Cohort Collaboration (EPPICC) contributed data. Children Results Of 2318 children included, median age was 6.4 years and 68% had advanced/severe immunosuppression at ART initiation. At 1 year of VS, 12% had PIR. In multivariable analysis, PIR was associated with older age and worse immunological stage at ART start, hepatitis B coinfection, and residing in Thailand (all P ≤ .03). Rates of AIDS/death (95% confidence interval) per 100 000 person-years were 1052 (547, 2022) among PIR versus 261 (166, 409) among immune responders; rate ratio of 4.04 (1.83, 8.92; P < .001). Conclusions One in eight children in our cohort experienced PIR despite sustained VS. While the overall rate of AIDS/death was low, children with PIR had a 4-fold increase in risk of event as compared with immune responders.

Published
2020
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12. Children living with HIV in Europe: do migrants have worse treatment outcomes?

Author

Chappell, E., Kohns Vasconcelos, M., Goodall, R. L., Galli, L., Goetghebuer, T., Noguera-Julian, A., Rodrigues, L. C., Scherpbier, H., Smit, C., Bamford, A., Crichton, S., Navarro, M. L., Ramos, J. T., Warszawski, J., Spolou, V., Chiappini, E., Venturini, E., Prata, F., Kahlert, C., Marczynska, M., Marques, L., Naver, L., Thorne, C., Gibb, D. M., Giaquinto, C., Judd, A., Collins, I. J., Goodall, R., Rodrigues, L., Duff, C., Gomezpena, D., Jackson, C., Lundin, R., Mangiarini, L., Milanzi, E., Nardone, A., Hainaut, M., Van der Kelen, E., Delforge, M., Le Chenadec, J., Ramos, E., Dialla, O., Wack, T., Laurent, C., Ait si Selmi, L., Leymarie, I., Ait Benali, F., Brossard, M., Boufassa, L., Floch-Tudal, C., Firtion, G., Hau, I., Chace, A., Bolot, P., Blanche, S., Granier, M., Labrune, P., Lachassine, E., Dollfus, C., Levine, M., Fourcade, C., Heller-Roussin, B., Runel-Belliard, C., Tricoire, J., Monpoux, F., Chirouze, C., Reliquet, V., Brouard, J., Kebaili, K., Fialaire, P., de Villeneuve, A., Lalande, M., de Flandres, J., Mazingue, F., Partisani, M. L., de Martino, M., Angelo Tovo, P., Gabiano, C., Carloni, I., Larovere, D., Baldi, F., Miniaci, A., Pession, A., Badolato, R., Panto, G., Anastasio, E., Montagnani, C., Bianchi, L., Allodi, A., Di Biagio, A., Grignolo, S., Giacomet, V., Marchisio, P., Banderali, G., Tagliabue, C., Cellini, M., Bruzzese, E., Di Costanzo, P., Lo Vecchio, A., Dona, D., Rampon, O., Romano, A., Dodi, I., Esposito, S., Zuccaro, V., Zanaboni, D., Consolini, R., Bernardi, S., Genovese, O., Cristiano, L., Mazza, A., Garazzino, S., Mignone, F., Silvestro, E., Portelli, V., Kinderziekenhuis, E., van der Kuip, M., Pajkrt, D., Scherpbier, H. J., de Boer, C., Weijsenfeld, A. M., Jurriaans, S., Back, N. K. T., Zaaijer, H. L., Berkhout, B., Cornelissen, M. T. E., Schinkel, C. J., Wolthers, K. C., Fraaij, P. L. A., van Rossum, A. M. C., Vermont, C. L., van der Knaap, L. C., Visser, E., Boucher, C. A. B., Koopmans, M. P. G., van Kampen, J. J. A., Henriet, S. S. V., van Aerde, M. K., Strik-Albers, R., Rahamat-Langendoen, J., Stelma, F. F., Burger, D., Scholvinck, E. H., de Groot-de Jonge, H., Niesters, H. G. M., van Leer-Buter, C. C., Knoester, M., Bont, L. J., Geelen, S. P. M., Loeffen, Y. G. T., Wolfs, T. F. W., Nauta, N., Schuurman, R., Hofstra, L. M., Wensing, A. M. J., Reiss, P., Zaheri, S., Boyd, A. C., Bezemer, D. O., van Sighem, A. I., Wit, F. W. M. N., Hillebregt, M. M. J., Woudstra, T. J., Bergsma, D., van de Sande, L., Rutkens, T., van der Vliet, S., Lelivelt, K. J., Scheijgrond, A., de Groot, L., van den Akker, M., Bakker, Y., EI Berkaoui, A., Bezemer, M., Bretin, N., Djoechro, E., Groters, M., Kruijne, E., Lodewijk, C., Lucas, E., Munjishvili, L., Paling, F., Peeck, B., Ree, C., Regtop, R., Ruijs, Y., Schoorl, M., Schnorr, P., Tuijn, E., Veenenberg, L., Visser, K. M., Witte, E. C., Popielska, J., Pokorska-Spiewak, M., Oldakowska, A., Zawadka, K., Coupland, U., Doroba, M., Teixeira, C., Fernandes, A., Soler-Palacin, P., Antoinette Frick, M., Perez-Hoyos, S., Mur, A., Lopez, N., Mendez, M., Mayol, L., Vallmanya, T., Calavia, O., Garcia, L., Coll, M., Pineda, V., Rius, N., Rovira, N., Duenas, J., Fortuny, C., Jose Mellado, M., Escosa, L., Garcia Hortelano, M., Sainz, T., Gonzalez-Tome, M. I., Rojo, P., Blazquez, D., Prieto-Tato, L., Epalza, C., Tomas Ramos, J., Guillen, S., Saavedra, J., Santos, M., Santiago, B., de Ory, S. J., Carrasco, I., Munoz-Fernandez, M. A., Angel Roa, M., Penin, M., Martinez, J., Badillo, K., Onate, E., Pocheville, I., Garrote, E., Colino, E., Gomez Sirvent, J., Garzon, M., Roman, V., Angulo, R., Neth, O., Falcon, L., Terol, P., Luis Santos, J., Moreno, D., Lendinez, F., Peromingo, E., Uberos, J., Ruiz, B., Grande, A., Jose Romero, F., Perez, C., Lillo, M., Losada, B., Herranz, M., Bustillo, M., Collado, P., Antonio Couceiro, J., Vila, L., Calvino, C., Isabel Piqueras, A., Oltra, M., Gavilan, C., Montesinos, E., Dapena, M., Alvarez, C., Jimenez, B., Gloria Andres, A., Marugan, V., Ochoa, C., Alfayate, S., Isabel Menasalvas, A., del Prado, Y. R., Navernaver, L., Soeria-Atmadja, S., Belfrage, E., Hagas, V., Aebi-Popp, K., Anagnostopoulos, A., Battegay, M., Baumann, M., Bernasconi, E., Boni, J., Braun, D. L., Bucher, H. C., Calmy, A., Cavassini, M., Ciuffi, A., Crisinel, P. A., Duppenthaler, A., Dollenmaier, G., Egger, M., Elzi, L., Fehr, J., Fellay, J., Francini, K., Furrer, H., Fux, C. A., Gunthard, H. F., Haerry, D., Hasse, B., Hirsch, H. H., Hoffmann, M., Hosli, I., Huber, M., Kaiser, L., Keiser, O., Klimkait, T., Kottanattu, L., Kouyos, R. D., Kovari, H., Ledergerber, B., Martinetti, G., Martinez de Tejada, B., Marzolini, C., Metzner, K. J., Muller, N., Nicca, D., Paioni, P., Pantaleo, G., Perreau, M., Polli, C., Rauch, A., Rudin, C., Scherrer, A. U., Schmid, P., Speck, R., Stockle, M., Sultan-Beyer, L., Tarr, P., Thanh Lecompte, M., Trkola, A., Vernazza, P., Wagner, N., Wandeler, G., Weber, R., Yerly, S., Lyall, H., Butler, K., Doerholt, K., Doherty, C., Foster, C., Harrison, I., Kenny, J., Klein, N., Letting, G., Mcmaster, P., Murau, F., Nsangi, E., Prime, K., Riordan, A., Shackley, F., Shingadia, D., Storey, S., Tudor-Williams, G., Turkova, A., Welch, S., Cook, C., Dobson, D., Fairbrother, K., Prevost, M. L., Van Looy, N., Peters, H., Francis, K., Thrasyvoulou, L., Fidler, K., Bernatoniene, J., Manyika, F., Sharpe, G., Subramaniam, B., Hague, R., Price, V., Flynn, J., Cardoso, A., Abou - Rayyah, M., Yeadon, S., Segal, S., Hawkins, S., Dowie, M., Bandi, S., Percival, E., Eisenhut, M., Duncan, K., Anguvaa, L., Wren, L., Flood, T., Pickering, A., Murphy, C., Daniels, J., Lees, Y., Thompson, F., Williams, A., Williams, B., Pope, S., Libeschutz, S., Cliffe, L., Southall, S., Freeman, A., Freeman, H., Christie, S., Gordon, A., Rosie Hague, D., Clarke, L., Jones, L., Brown, L., Greenberg, M., Benson, C., Ibberson, L., Patel, S., Hancock, J., Sharland, M., Lyall, E. G. H., Seery, P., Kirkhope, N., Raghunanan, S., Callaghan, A., Bridgwood, A., Evans, J., Blake, E., Yannoulias, A., Department of Sciences for Woman and Child's Health, Florence University, Laboratoire Chrono-environnement - CNRS - UBFC (UMR 6249) (LCE), Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Paediatric Infectious Diseases / Rheumatology / Immunology, Amsterdam institute for Infection and Immunity, Infectious diseases, AII - Infectious diseases, Amsterdam Reproduction & Development (AR&D), Medical Microbiology and Infection Prevention, Gastroenterology and Hepatology, Global Health, APH - Aging & Later Life, Biomedical Engineering and Physics, ACS - Atherosclerosis & ischemic syndromes, 1, Elizabeth Chappell, 2 3 4, Malte Kohns Vasconcelo, L Goodall 1, Ruth, 5, Luisa Galli, 6, Tessa Goetghebuer, 9 10, Antoni Noguera-Julian 7 8, C Rodrigues 2, Laura, Scherpbier 11, Henriette, Smit 12, Colette, 1 13 14, Alasdair Bamford, 1, Siobhan Crichton, Luisa Navarro 10 15 16 17, Marissa, T Ramos 18, Jose, Warszawski 19 20, Josiane, Spolou 21, Vana, 5, Elena Chiappini, 5, Elisabetta Venturini, Prata 22, Filipa, Kahlert 23, Christian, Marczynska 24, Magdalena, Marques 25, Laura, Naver 26, Lar, Thorne 14, Claire, M Gibb 1, Diana, Giaquinto 27, Carlo, 1, Ali Judd, 1, Intira Jeannie Collin, Pregnancy and Paediatric Infections Cohort Collaboration (EPPICC), European, Goodall, Ruth, Rodrigues, Laura, Duff, Charlotte, Gomezpena, Daniel, Jackson, Charlotte, Lundin, Rebecca, Mangiarini, Laura, Milanzi, Edith, Nardone, Alessandra, Hainaut, Marc, Van der Kelen, Evelyne, Delforge, Marc, Le Chenadec, Jerome, Ramos, Elisa, Dialla, Olivia, Wack, Thierry, Laurent, Corine, Ait Si Selmi, Lamya, Leymarie, Isabelle, Ait Benali, Fazia, Brossard, Maud, Boufassa, Leila, Floch-Tudal, Corinne, Firtion, Ghislaine, Hau, Isabelle, Chace, Anne, Bolot, Pascal, Blanche, Stéphane, Granier, Michèle, Labrune, Philippe, Lachassine, Eric, Dollfus, Catherine, Levine, Martine, Fourcade, Corinne, Heller-Roussin, Brigitte, Runel-Belliard, Camille, Tricoire, Joëlle, Monpoux, Fabrice, Chirouze, Catherine, Reliquet, Véronique, Brouard, Jacque, Kebaili, Kamila, Fialaire, Pascale, de Villeneuve, Arnaud, Lalande, Muriel, de Flandres, Jeanne, Mazingue, Françoise, Luisa Partisani, Maria, de Martino, Maurizio, Angelo Tovo, Pier, Gabiano, Clara, Carloni, Ine, Larovere, Domenico, Baldi, Francesco, Miniaci, Angela, Pession, Andrea, Badolato, Raffaele, Pantò, Grazia, Anastasio, Elisa, Montagnani, Carlotta, Bianchi, Leila, Allodi, Alessandra, Di Biagio, Antonio, Grignolo, Sara, Giacomet, Vania, Marchisio, Paola, Banderali, Giuseppe, Tagliabue, Claudia, Cellini, Monica, Bruzzese, Eugenia, DI COSTANZO, Pasquale, LO VECCHIO, Andrea, Donà, Daniele, Rampon, Osvalda, Romano, Amelia, Dodi, Icilio, Esposito, Susanna, Zuccaro, Valentina, Zanaboni, Domenico, Consolini, Rita, Bernardi, Stefania, Genovese, Orazio, Cristiano, Letizia, Mazza, Antonio, Garazzino, Silvia, Mignone, Federica, Silvestro, Erika, Portelli, Vincenzo, Pediatric surgery, Pediatrics, and Virology

Subjects
children, Europe, HIV, migrant, mortality, Adolescent, Child, Humans, Treatment Outcome, Viral Load, Anti-HIV Agents, HIV Infections, Transients and Migrants, medicine.medical_treatment, Human immunodeficiency virus (HIV), lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], medicine.disease_cause, 0302 clinical medicine, Medicine, Pharmacology (medical), 030212 general & internal medicine, health care economics and organizations, Health Policy, Hazard ratio, virus diseases, Immunosuppression, Infectious Diseases, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, population characteristics, 0305 other medical science, Viral load, geographic locations, education, 03 medical and health sciences, Acquired immunodeficiency syndrome (AIDS), SDG 3 - Good Health and Well-being, 030505 public health, business.industry, Proportional hazards model, medicine.disease, Confidence interval, lnfectious Diseases and Global Health Radboud Institute for Health Sciences [Radboudumc 4], Observational study, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Demography
Abstract

Contains fulltext : 249078.pdf (Publisher’s version ) (Open Access) OBJECTIVES: To assess the effect of migrant status on treatment outcomes among children living with HIV in Europe. METHODS: Children aged

Published
2022
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13. Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis.

Author

Cavone F, Cappelli S, Bonuccelli A, D'Elios S, Costagliola G, Peroni D, Orsini A, and Consolini R

Abstract

Ataxia telangiectasia (AT) is a rare disease characterized by the early onset and slow progression of neurodegenerative defects, mainly affecting the cerebellum, associated with immunodeficiency and teleangiectasias. Ataxia is the hallmark of the disease and usually its first manifestation. Overt cerebellar ataxia usually becomes evident between 16 and 18 months of age, after the onset of walking, and is characterized by frequent falls and an ataxic gait with an enlarged base. We report the case of a child who first presented with serious recurrent infectious, without exhibiting neurological symptoms. The patient was initially diagnosed with combined immunodeficiency (CID) of unknown etiology for nearly 3 years, before he was definitively diagnosed with ataxia telangiectasia.

Published
2023
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15. Therapeutic aspects of Sydenham's Chorea: an update

Author

Depietri, G., Carli, N., Sica, A., Oliviero, D., Costagliola, G., Striano, P., Bonuccelli, A., Frisone, F., Peroni, D., Consolini, R., Foiadelli, T., and Orsini, A.

Subjects
Acute Rheumatic Fever, Beta-Hemolytic Streptococcal Pharyngitis, Hyperkinetic Movement Disorder, Sydenham’s Chorea, Humans, Knowledge, Uncertainty, Writing, Chorea, Rheumatic Fever, Acute Rheumatic Fever, Beta-Hemolytic Streptococcal Pharyngitis, Hyperkinetic Movement Disorder, Sydenham’s Chorea
Abstract

Sydenham's Chorea (SC) is a hyperkinetic movement disorder associated with neuropsychiatric manifestations. It is believed to be caused by the autoimmune response following a group A beta-hemolytic streptococcal (GABHS) pharyngitis, and it is one of the major diagnostic criteria for Acute Rheumatic Fever (ARF) diagnosis. Despite having been known and studied for centuries, there are still no standardized therapies or official guidelines for SC treatment, so that it is necessarily left to physicians' clinical experience. Antibiotic treatment, symptomatic therapies, and immunomodulatory treatment are the three pillars upon which SC patients' management is currently based, but they still lack a solid scientific basis. The aim of this writing is precisely to review the state of the art of SC's treatment, with an overview of the advances made in the last 5 years. However, since the therapeutic uncertainties are a mere reflection of the severe gap of knowledge that concerns SC's pathogenesis and manifestations, the importance of high-quality research studies based on homogenized methodologies, instruments, and measured outcomes will also be stressed.

Published
2021

16. Opportunistic infections in immunosuppressed patients with juvenile idiopathic arthritis: analysis by the Pharmachild Safety Adjudication Committee

Author

Giancane G1, Swart JF2, Castagnola E3, Groll AH4, Horneff G5, 6, Huppertz HI7, Lovell DJ8, Wolfs T2, Herlin T9, Dolezalova P10, Sanner H11, Susic G13, Sztajnbok F14, Maritsi D15, Constantin T16, Vargova V17, Sawhney S18, Rygg M19, K Oliveira S21, Cattalini M22, Bovis F1, Bagnasco F1, Pistorio A23, Martini A24, Wulffraat N2, Ruperto N25, Paediatric Rheumatology International Trials Organisation (PRINTO). Cuttica R, Garay SM, Brunner J, Emminger W, Appenzeller S, Len C, Saad Magalhaes C, Telcharova-Mihaylovska A, Harjacek M, Jelusic M, Estmann A, Nielsen S, Herrera Mora C, Gervais E, Koné-Paut I, Quartier P, Foeldvari I, Horneff G, Lutz T, Minden K, Tzaribachev N, Trachana M, Tsitsami E, Vougiouka O, Orban I, Harel L, Hashkes P, Uziel Y, Cimaz R, Civino A, Consolini R, D'Angelo G, De Benedetti F, Filocamo G, Fueri E, Gallizzi R, Maggio MC, Magnolia MG, Miniaci A, Montin D, Olivieri A. N., Pastore S, Rigante D, Zulian F, Rumba-Rozenfelde I, Stanevicha V, Panaviene V, Rodriguez Lozano AL, Rubio-Perez N, Vega Cornejo G, Hoppenreijs E, Kamphuis S, Flato B, Nordal EB, Abdwani R, Miraval T, Paz Gastanaga ME, Smolewska E, Ailioaie C, Cochino AV, Laday M, Lazar C, Alexeeva E, Chasnyk V, Keltsev V, Suwairi WMS, Vijatov-Djuric G, Vojinovic J, Arkachaisri T, Koskova E, Avcin T, Ally M, Van Rensburg CJ, Louw I, Lopez JA, Boteanu AL, Calvo Penades I, De Inocencio J, Mesa-Del-Castillo P, Moreno E, Remesal A, Hofer M, Gok F, Ozen S, Ramanan A, Pallotti C, Villa L., Giancane, G1, Swart, Jf2, Castagnola, E3, Groll, Ah4, Horneff, G5, Huppertz, Hi7, Lovell, Dj8, Wolfs, T2, Herlin, T9, Dolezalova, P10, Sanner, H11, Susic, G13, Sztajnbok, F14, Maritsi, D15, Constantin, T16, Vargova, V17, Sawhney, S18, Rygg, M19, K Oliveira, S21, Cattalini, M22, Bovis, F1, Bagnasco, F1, Pistorio, A23, Martini, A24, Wulffraat, N2, Ruperto, N25, Paediatric Rheumatology International Trials Organisation (PRINTO)., Cuttica R, Garay, Sm, Brunner, J, Emminger, W, Appenzeller, S, Len, C, Saad Magalhaes, C, Telcharova-Mihaylovska, A, Harjacek, M, Jelusic, M, Estmann, A, Nielsen, S, Herrera Mora, C, Gervais, E, Koné-Paut, I, Quartier, P, Foeldvari, I, Horneff, G, Lutz, T, Minden, K, Tzaribachev, N, Trachana, M, Tsitsami, E, Vougiouka, O, Orban, I, Harel, L, Hashkes, P, Uziel, Y, Cimaz, R, Civino, A, Consolini, R, D'Angelo, G, De Benedetti, F, Filocamo, G, Fueri, E, Gallizzi, R, Maggio, Mc, Magnolia, Mg, Miniaci, A, Montin, D, Olivieri, A. N., Pastore, S, Rigante, D, Zulian, F, Rumba-Rozenfelde, I, Stanevicha, V, Panaviene, V, Rodriguez Lozano, Al, Rubio-Perez, N, Vega Cornejo, G, Hoppenreijs, E, Kamphuis, S, Flato, B, Nordal, Eb, Abdwani, R, Miraval, T, Paz Gastanaga, Me, Smolewska, E, Ailioaie, C, Cochino, Av, Laday, M, Lazar, C, Alexeeva, E, Chasnyk, V, Keltsev, V, Suwairi, Wm, Vijatov-Djuric, G, Vojinovic, J, Arkachaisri, T, Koskova, E, Avcin, T, Ally, M, Van Rensburg, Cj, Louw, I, Lopez, Ja, Boteanu, Al, Calvo Penades, I, De Inocencio, J, Mesa-Del-Castillo, P, Moreno, E, Remesal, A, Hofer, M, Gok, F, Ozen, S, Ramanan, A, Pallotti, C, Villa, L., Giancane, Gabriella, Swart, Joost F, Castagnola, Elio, Groll, Andreas H, Horneff, Gerd, Huppertz, Hans-Iko, Lovell, Daniel J, Wolfs, Tom, Herlin, Troel, Dolezalova, Pavla, Sanner, Helga, Susic, Gordana, Sztajnbok, Flavio, Maritsi, Despoina, Constantin, Tama, Vargova, Veronika, Sawhney, Sujata, Rygg, Marite, K Oliveira, Sheila, Cattalini, Marco, Bovis, Francesca, Bagnasco, Francesca, Pistorio, Angela, Martini, Alberto, Wulffraat, Nico, Ruperto, Nicolino, Cuttica, Ruben, Garay, Stella Mari, Brunner, Jurgen, Emminger, Wolfgang, Appenzeller, Simone, Len, Claudio, Saad Magalhaes, Claudia, Telcharova-Mihaylovska, Albena, Harjacek, Miroslav, Jelusic, Marija, Estmann, Anne, Nielsen, Susan, Herrera Mora, Cristina, Gervais, Elisabeth, Koné-Paut, Isabelle, Quartier, Pierre, Foeldvari, Ivan, Lutz, Thoma, Minden, Kirsten, Tzaribachev, Nikolay, Trachana, Maria, Tsitsami, Elena, Vougiouka, Olga, Orban, Ilonka, Harel, Liora, Hashkes, Philip, Uziel, Yosef, Cimaz, Rolando, Civino, Adele, Consolini, Rita, D'Angelo, Gianfranco, De Benedetti, Fabrizio, Filocamo, Giovanni, Fueri, Elena, Gallizzi, Romina, Maggio, Maria Cristina, Magnolia, Maria Greca, Miniaci, Angela, Montin, Davide, Olivieri, Alma Nunzia, Pastore, Serena, Rigante, Donato, Zulian, Francesco, Rumba-Rozenfelde, Ingrida, Stanevicha, Valda, Panaviene, Violeta, Rodriguez Lozano, Ana Luisa, Rubio-Perez, Nadina, Vega Cornejo, Gabriel, Hoppenreijs, Esther, Kamphuis, Sylvia, Flato, Berit, Nordal, Ellen Berit, Abdwani, Reem, Miraval, Tatiana, Paz Gastanaga, Maria Eliana, Smolewska, Elzbieta, Ailioaie, Constantin, Cochino, Alexis-Virgil, Laday, Matilda, Lazar, Calin, Alexeeva, Ekaterina, Chasnyk, Vyacheslav, Keltsev, Vladimir, Suwairi, Wafaa Mohammed Saad, Vijatov-Djuric, Gordana, Vojinovic, Jelena, Arkachaisri, Thaschawee, Koskova, Elena, Avcin, Tadej, Ally, Mahmood, Van Rensburg, Christa Janse, Louw, Ingrid, Lopez, Jordi Anton, Boteanu, Alina Lucica, Calvo Penades, Inmaculada, De Inocencio, Jaime, Mesa-Del-Castillo, Pablo, Moreno, Estefania, Remesal, Agustin, Hofer, Michael, Gok, Faysal, Ozen, Seza, Ramanan, Athimalaipet, Pallotti, Chiara, Villa, Luca, and Pediatrics

Subjects
Male, lcsh:Diseases of the musculoskeletal system, Biologic, Paediatrics: 760 [VDP], Artritis infecciosa, MedDRA, Infants malalts, Arthritis, Severity of Illness Index, Hospital patients, Cohort Studies, Pharmacovigilance, 0302 clinical medicine, 030212 general & internal medicine, Registries, Child, Biologics, Immunosuppressive therapy, Infections, Juvenile idiopathic arthritis, Opportunistic, biologics, immunosuppressive therapy, infections, juvenile idiopathic arthritis, opportunistic, Barneleddgikt, 3. Good health, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Antirheumatic Agents, Child, Preschool, Cohort, Pediatric Infectious Disease, Female, Infection, Research Article, medicine.medical_specialty, Tuberculosis, juvenil idiopathic arthritis, Opportunistic Infections, Herpes Zoster, 03 medical and health sciences, Immunocompromised Host, Juvenile idiopathic arthriti, Internal medicine, medicine, Humans, book, 030203 arthritis & rheumatology, Malalts hospitalitzats, Immunosupressió, business.industry, Sick children, medicine.disease, Rheumatology, Arthritis, Juvenile, Infectious arthritis, Pediatri: 760 [VDP], Orthopedic surgery, Opportunistiske infeksjoner, book.journal, lcsh:RC925-935, business, Infeccions oportunistes, Immunosuppression
Abstract

Background: To derive a list of opportunistic infections (OI) through the analysis of the juvenile idiopathic arthritis (JIA) patients in the Pharmachild registry by an independent Safety Adjudication Committee (SAC). Methods: The SAC (3 pediatric rheumatologists and 2 pediatric infectious disease specialists) elaborated and approved by consensus a provisional list of OI for use in JIA. Through a 5 step-procedure, all the severe and serious infections, classified as per MedDRA dictionary and retrieved in the Pharmachild registry, were evaluated by the SAC by answering six questions and adjudicated with the agreement of 3/5 specialists. A final evidence-based list of OI resulted by matching the adjudicated infections with the provisional list of OI. Results: A total of 772 infectious events in 572 eligible patients, of which 335 serious/severe/very severe non-OI and 437 OI (any intensity/severity), according to the provisional list, were retrieved. Six hundred eighty-two of 772 (88.3%) were adjudicated as infections, of them 603/682 (88.4%) as common and 119/682 (17.4%) as OI by the SAC. Matching these 119 opportunistic events with the provisional list, 106 were confirmed by the SAC as OI, and among them infections by herpes viruses were the most frequent (68%), followed by tuberculosis (27.4%). The remaining events were divided in the groups of non-OI and possible/patient and/or pathogen-related OI. Conclusions: We found a significant number of OI in JIA patients on immunosuppressive therapy. The proposed list of OI, created by consensus and validated in the Pharmachild cohort, could facilitate comparison among future pharmacovigilance studies. © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

Published
2020
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17. The Evolutionary Scenario of Pediatric Unclassified Primary Antibody Deficiency to Adulthood.

Author

Sgrulletti M, Costagliola G, Giardino G, Graziani S, Del Duca E, Di Cesare S, Di Matteo G, Consolini R, Pignata C, and Moschese V

Abstract

Background: Unclassified primary antibody deficiency (unPAD) is a relatively novel inborn error of immunity (IEI) condition that can vary with time to more defined entities. Since long-term follow-up (FU) studies are scarce, we aimed to provide insight into the evolutionary clinical and immunological scenario of unPAD children to adulthood and identification of biomarkers of primary immune deficiency (PID) persistence., Methods: A total of 23 pediatric unPAD patients underwent clinical and immunological FU for a mean time of 14 years (range 3-32 years, median 16 years)., Results: UnPAD diagnosis may change over time. At the last FU, 10/23 (44%) children matched the diagnosis of transient hypogammaglobulinemia of infancy and 13/23 (56%) suffered from a persistent PID. In detail, an unPAD condition was confirmed in 7/23 (30%) patients, whereas 3/23 (13%), 2/23 (9%), and 1/23 (4%) were reclassified as common variable immunodeficiency, selective IgA deficiency, and isolated IgM deficiency, respectively. Low IgA, low specific antibody response to pneumococcus, and lower respiratory tract infections at diagnosis were independently associated with IEI persistence., Conclusions: Long-term monitoring of unPAD patients is required to define their outcome and possible evolution towards a definitive IEI diagnosis.

Published
2023
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18. Long term longitudinal follow-up of an AD-HIES cohort: the impact of early diagnosis and enrollment to IPINet centers on the natural history of Job's syndrome.

Author

Carrabba M, Dellepiane RM, Cortesi M, Baselli LA, Soresina A, Cirillo E, Giardino G, Conti F, Dotta L, Finocchi A, Cancrini C, Milito C, Pacillo L, Cinicola BL, Cossu F, Consolini R, Montin D, Quinti I, Pession A, Fabio G, Pignata C, Pietrogrande MC, and Badolato R

Abstract

Job's syndrome, or autosomal dominant hyperimmunoglobulin E syndrome (AD-HIES, STAT3-Dominant Negative), is a rare inborn error of immunity (IEI) with multi-organ involvement and long-life post-infective damage. Longitudinal registries are of primary importance in improving our knowledge of the natural history and management of these rare disorders. This study aimed to describe the natural history of 30 Italian patients with AD-HIES recorded in the Italian network for primary immunodeficiency (IPINet) registry. This study shows the incidence of manifestations present at the time of diagnosis versus those that arose during follow up at a referral center for IEI. The mean time of diagnostic delay was 13.7 years, while the age of disease onset was < 12 months in 66.7% of patients. Respiratory complications, namely bronchiectasis and pneumatoceles, were present at diagnosis in 46.7% and 43.3% of patients, respectively. Antimicrobial prophylaxis resulted in a decrease in the incidence of pneumonia from 76.7% to 46.7%. At the time of diagnosis, skin involvement was present in 93.3% of the patients, including eczema (80.8%) and abscesses (66.7%). At the time of follow-up, under therapy, the prevalence of complications decreased: eczema and skin abscesses reduced to 63.3% and 56.7%, respectively. Antifungal prophylaxis decreased the incidence of mucocutaneous candidiasis from 70% to 56.7%. During the SARS-CoV-2 pandemic, seven patients developed COVID-19. Survival analyses showed that 27 out of 30 patients survived, while three patients died at ages of 28, 39, and 46 years as a consequence of lung bleeding, lymphoma, and sepsis, respectively. Analysis of a cumulative follow-up period of 278.7 patient-years showed that early diagnosis, adequate management at expertise centers for IEI, prophylactic antibiotics, and antifungal therapy improve outcomes and can positively influence the life expectancy of patients., (© 2023. The Author(s).)

Published
2023
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20. Prevalence of acquired resistance mutations in a large cohort of perinatally infected HIV-1 patients

Author

Ungaro, R., Taramasso, L., Bruzzone, B., Vicenti, I., Galli, L., Borghi, V., Francisci, D., Pecorari, M., Zoncada, A., Callegaro, A. P., Paolini, E., Monno, L., Bonora, S., Di Biagio, A., ARCA Study Group, Giacometti, A., Butini, L., del Gobbo, R., Bagnarelli, P., Tacconi, D., Corbelli, G., Zanussi, S., Punzi, G., Maggiolo, F., Calza, L., Carla Re, M., Pristera, R., Turconi, P., Mandas, A., Tini, S., Amadio, G., Sighinolfi, L., Corsi, P., Di Pietro, M., Colao, G., Tosti, A., Setti, M., Cenderello, G., Trezzi, M., Orani, A., Arcidiacono, I., Degiuli, A., De Gennaro, M., Chiodera, A., Scalzini, A., Palvarini, L., Todaro, G., Rusconi, S., Gismondo, M. R., Micheli, V., Biondi, M. L., Capetti, A., Meraviglia, P., Boeri, E., Mussini, C., Soria, A., Vecchi, L., Santirocchi, M., Brustia, D., Ravanini, P., Dal Bello, F., Romano, N., Mancuso, S., Calzetti, C., Maserati, R., Filice, G., Baldanti, F., Parruti, G., Polilli, E., Sacchini, D., Martinelli, C., Consolini, R., Vatteroni, L., Vivarelli, A., Nerli, A., Lenzi, L., Magnani, G., Ortolani, P., Andreoni, M., Fimiani, C., Palmisano, L., Di Giambenedetto, S., Vullo, V., Turriziani, O., Montano, M., Antinori, A., Zaccarelli, M., Dentone, C., Gonnelli, A., De Luca, A., Palumbo, M., Ghisetti, V., Delle Foglie, P., Rossi, C., Mondino, V., Malena, M., Grossi, P., Seminari, E., Poletti, F., Ungaro R., Taramasso L., Bruzzone B., Vicenti I., Galli L., Borghi V., Francisci D., Pecorari M., Zoncada A., Callegaro A.P., Paolini E., Monno L., Bonora S., Di Biagio A., Giacometti A., Butini L., del Gobbo R., Bagnarelli P., Tacconi D., Corbelli G., Zanussi S., Punzi G., Maggiolo F., Calza L., Carla Re M., Pristera R., Turconi P., Mandas A., Tini S., Amadio G., Sighinolfi L., Corsi P., Di Pietro M., Colao G., Tosti A., Setti M., Cenderello G., Trezzi M., Orani A., Arcidiacono I., Degiuli A., De Gennaro M., Chiodera A., Scalzini A., Palvarini L., Todaro G., Rusconi S., Gismondo M.R., Micheli V., Biondi M.L., Capetti A., Meraviglia P., Boeri E., Mussini C., Soria A., Vecchi L., Santirocchi M., Brustia D., Ravanini P., Dal Bello F., Romano N., Mancuso S., Calzetti C., Maserati R., Filice G., Baldanti F., Parruti G., Polilli E., Sacchini D., Martinelli C., Consolini R., Vatteroni L., Vivarelli A., Nerli A., Lenzi L., Magnani G., Ortolani P., Andreoni M., Fimiani C., Palmisano L., Di Giambenedetto S., Vullo V., Turriziani O., Montano M., Antinori A., Zaccarelli M., Dentone C., Gonnelli A., De Luca A., Palumbo M., Ghisetti V., Delle Foglie P., Rossi C., Mondino V., Malena M., Grossi P., Seminari E., and Poletti F.

Subjects
Male, antiretroviral treatment, Infectious Disease Transmission, genotype, Human immunodeficiency virus (HIV), Drug Resistance, HIV Infections, Drug resistance, medicine.disease_cause, Retrospective Studie, Genotype, pol Gene Products, Human Immunodeficiency Viru, Prevalence, Medicine, Vertical, HIV Infection, Viral, pol Gene Products, Young adult, General Medicine, Infectious Diseases, Italy, Mutation (genetic algorithm), Female, Human Immunodeficiency Virus, Human, Microbiology (medical), Adult, Settore MED/17 - Malattie Infettive, Adolescent, Anti-HIV Agents, Young Adult, Acquired resistance, Drug Resistance, Viral, Humans, vertical HIV transmission, HIV-1, Mutation, Retrospective Studies, pol Gene Products, Human Immunodeficiency Virus, Infectious Disease Transmission, Vertical, HIV perinatally infection, business.industry, Anti-HIV Agent, Retrospective cohort study, Virology, Large cohort, business
Published
2019

21. Missed opportunities to prevent mother-to-child transmission of HIV in Italy

Author

Di Biagio, A., Taramasso, L., Gustinetti, G., Burastero, G., Giacomet, V., La Rovere, D., Genovese, O., Giaquinto, C., Rampon, O., Carloni, I., Hyppolite, Tk., Palandri, L., Bernardi, S., Bruzzese, E., Badolato, R., Gabiano, C., Chiappini, E, De Martino, M, Galli, L., Osimani, P., Larovere, D., Ruggeri, M., Pession, A., Faldella, G., Capra, F., Pulcini, S., Zattoni, V., Dotta, L., Aliffi, A., Anastasio, E., Fiumana, E., Chiappini, E., Gervaso, P., Montagnani, C., De Martino, M., Viscoli, C., Erba, P., Zuccotti, G., Benincaso, A., Salvini, F., Lipreri, R., Esposito, S., Plebani, A., Tagliabue, C., Giubbarelli, F., Nicastro, E., Lo Vecchio, A., Buffolano, W., Agnese, M., Romano, A., Marcello, S., Pennazzato, M., Consolini, R., Dodi, I., Zanaboni, D., Palma, P., Pontrelli, G., Tchidjou, H., Mazza, A., Tovo, Pa., Silvestro, E., Virano, S., Portelli, V., Pellegatta, A., Di Biagio, A., Taramasso, L., Gustinetti, G., Burastero, G., Giacomet, V., La Rovere, D., Genovese, O., Giaquinto, C., Rampon, O., Carloni, I., Hyppolite, T. K., Palandri, L., Bernardi, S., Bruzzese, E., Badolato, R., Gabiano, C., Chiappini, E., De Martino, M., Galli, L., Osimani, P., Larovere, D., Ruggeri, M., Pession, A., Faldella, G., Capra, F., Pulcini, S., Zattoni, V., Dotta, L., Aliffi, A., Anastasio, E., Fiumana, E., Gervaso, P., Montagnani, C., Viscoli, C., Erba, P., Zuccotti, G., Benincaso, A., Salvini, F., Lipreri, R., Esposito, S., Plebani, A., Tagliabue, C., Giubbarelli, F., Nicastro, E., Lo Vecchio, A., Buffolano, W., Agnese, M., Romano, A., Marcello, S., Pennazzato, M., Consolini, R., Dodi, I., Zanaboni, D., Palma, P., Pontrelli, G., Tchidjou, H., Mazza, A., Tovo, P. A., Silvestro, E., Virano, S., Portelli, V., and Pellegatta, A.

Subjects
Male, 0301 basic medicine, Pediatrics, newborns, medicine.medical_treatment, children, HIV, missed opportunities, mothers, pregnancy, Human immunodeficiency virus (HIV), HIV Infections, medicine.disease_cause, Health Services Accessibility, Health Policy, Infectious Diseases, Pharmacology (medical), 0302 clinical medicine, newborn, Childbirth, Registries, 030212 general & internal medicine, Pregnancy Complications, Infectious, Transmission (medicine), mother, virus diseases, Settore MED/38, children, HIV, missed opportunities, mothers, newborns, pregnancy, Italy, Female, medicine.medical_specialty, Mother to child transmission, Anti-HIV Agents, Prenatal care, Risk Assessment, 03 medical and health sciences, medicine, Humans, Caesarean section, Peripartum Period, Pregnancy, Cesarean Section, business.industry, Infant, Newborn, Infant, medicine.disease, 030112 virology, Infectious Disease Transmission, Vertical, missed opportunitie, business
Abstract

OBJECTIVES: Vertical transmission of HIV can be effectively controlled through antenatal screening, antiretroviral treatment and the services provided during and after childbirth for mother and newborn. In Italy, the National Health Service guarantees universal access to prenatal care for all women, including women with HIV infection. Despite this, children are diagnosed with HIV infection every year. The aim of the study was to identify missed opportunities for prevention of mother-to-child transmission of HIV. METHODS: The Italian Register for HIV Infection in Children, which was started in 1985 and involves 106 hospitals throughout the country, collects data on all new cases of HIV infection in children. For this analysis, we reviewed the database for the period 2005 to 2015. RESULTS: We found 79 HIV-1-infected children newly diagnosed after birth in Italy. Thirty-two of the mothers were Italian. During the pregnancy, only 15 of 19 women with a known HIV diagnosis were treated with antiretroviral treatment, while, of 34 women who had received an HIV diagnosis before labour began, only 23 delivered by caesarean section and 17 received intrapartum prophylaxis. In 25 mothers, HIV infection was diagnosed during pregnancy or in the peripartum period. Thirty-one newborns received antiretroviral prophylaxis and 39 received infant formula. CONCLUSIONS: We found an unacceptable number of missed opportunities to prevent mother-to-child transmission (MCTC). Eliminating HIV MTCT is a universal World Health Organization goal. Elucidating organization failures in Italy over the past decade should help to improve early diagnosis and to reach the zero transmission target in newborns.

Published
2019

22. Neurovisual Manifestations in Children with Mild COVID-19: An Association to Remember.

Author

Costagliola G, Vallario MP, Santangelo A, Foiadelli T, Ragone MC, Battini R, Tinelli F, Di Cicco ME, Bonuccelli A, Gaeta G, Iozzi C, Peroni DG, Operto FF, Consolini R, and Orsini A

Abstract

Neurovisual involvement has been reported in a number of patients with severe SARS-CoV-2 disease (COVID-19), mainly among adult patients. In children, such involvement has been reported in rare cases, often in those presenting with severe forms of COVID-19. The aim of this work is to explore the association between mild COVID-19 and neurovisual manifestations. We report the cases of three previously healthy children who developed neurovisual manifestations following mild acute COVID-19, analysing the clinical phenotype, the latency between the onset of acute COVID-19 and neurovisual involvement, and the kinetic of resolution. Our patients developed different clinical patterns, including visual impairment and ophthalmoplegia. In two cases, these clinical features occurred during acute COVID-19, while in the third patient their development was delayed after 10 days from disease onset. Furthermore, the dynamics of resolution were different, with one patient showing remission after 24 hours, the second after 30 days, and the third showing persistence of the strabismus after 2 months of follow-up. The spreading of COVID-19 among the paediatric population will probably lead to an increase of atypical disease forms, including those presenting with neurovisual involvement. Therefore, a better knowledge of the pathogenic and clinical features of these manifestations is warranted., Competing Interests: No potential conflict of interest was reported by the authors., (© 2023 Taylor & Francis Group, LLC.)

Published
2023
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23. Development and External Validation of a Model Predicting New-Onset Chronic Uveitis at Different Disease Durations in Juvenile Idiopathic Arthritis.

Author

van Straalen JW, Kearsley-Fleet L, Klotsche J, de Roock S, Minden K, Heiligenhaus A, Hyrich KL, de Boer JH, Lamot L, Olivieri AN, Gallizzi R, Smolewska E, Faugier E, Pastore S, Hashkes PJ, Herrera CN, Emminger W, Consolini R, Wulffraat NM, Ruperto N, and Swart JF

Subjects
Child, Humans, Prospective Studies, Prognosis, Arthritis, Juvenile complications, Arthritis, Juvenile epidemiology, Arthritis, Juvenile diagnosis, Uveitis epidemiology, Uveitis etiology, Uveitis diagnosis, Arthritis, Psoriatic
Abstract

Objective: To develop and externally validate a prediction model for new-onset chronic uveitis in children with juvenile idiopathic arthritis (JIA) for clinical application., Methods: Data from the international Pharmachild registry were used to develop a multivariable Cox proportional hazards model. Predictors were selected by backward selection, and missing values were handled by multiple imputation. The model was subsequently validated and recalibrated in 2 inception cohorts: the UK Childhood Arthritis Prospective Study (CAPS) study and the German Inception Cohort of Newly diagnosed patients with juvenile idiopathic arthritis (ICON) study. Model performance was evaluated by calibration plots and C statistics for the 2-, 4-, and 7-year risk of uveitis. A diagram and digital risk calculator were created for use in clinical practice., Results: A total of 5,393 patients were included for model development, and predictor variables were age at JIA onset (hazard ratio [HR] 0.83 [95% confidence interval (95% CI) 0.77-0.89]), ANA positivity (HR 1.59 [95% CI 1.06-2.38]), and International League of Associations for Rheumatology category of JIA (HR for oligoarthritis, psoriatic arthritis, and undifferentiated arthritis versus rheumatoid factor-negative polyarthritis 1.40 [95% CI 0.91-2.16]). Performance of the recalibrated prediction model in the validation cohorts was acceptable; calibration plots indicated good calibration and C statistics for the 7-year risk of uveitis (0.75 [95% CI 0.72-0.79] for the ICON cohort and 0.70 [95% CI 0.64-0.76] for the CAPS cohort)., Conclusion: We present for the first time a validated prognostic tool for easily predicting chronic uveitis risk for individual JIA patients using common clinical parameters. This model could be used by clinicians to inform patients/parents and provide guidance in choice of uveitis screening frequency and arthritis drug therapy., (© 2022 The Authors. Arthritis & Rheumatology published by Wiley Periodicals LLC on behalf of American College of Rheumatology.)

Published
2023
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24. Opportunistic infections in immunosuppressed patients with juvenile idiopathic arthritis: analysis by the Pharmachild Safety Adjudication Committee

Author

Giancane, G, Swart, Jf, Castagnola, E, Groll, Ah, Horneff, G, Huppertz, Hi, Lovell, Dj, Wolfs, T, Herlin, T, Dolezalova, P, Sanner, H, Susic, G, Sztajnbok, F, Maritsi, D, Constantin, T, Vargova, V, Sawhney, S, Rygg, M, K Oliveira, S, Cattalini, M, Bovis, F, Bagnasco, F, Pistorio, A, Martini, A, Wulffraat, N, Ruperto, N, Cuttica, R, Garay, Sm, Brunner, J, Emminger, W, Appenzeller, S, Len, C, Saad Magalhaes, C, Telcharova-Mihaylovska, A, Harjacek, M, Jelusic, M, Estmann, A, Nielsen, S, Herrera Mora, C, Gervais, E, Koné-Paut, I, Quartier, P, Foeldvari, I, Lutz, T, Minden, K, Tzaribachev, N, Trachana, M, Tsitsami, E, Vougiouka, O, Orban, I, Harel, L, Hashkes, P, Uziel, Y, Cimaz, R, Civino, A, Consolini, R, D'Angelo, G, De Benedetti, F, Filocamo, G, Fueri, E, Gallizzi, R, Maggio, Mc, Magnolia, Mg, Miniaci, A, Montin, D, Olivieri, An, Pastore, S, Rigante, Donato, Zulian, F, Rumba-Rozenfelde, I, Stanevicha, V, Panaviene, V, Rodriguez Lozano, Al, Rubio-Perez, N, Vega Cornejo, G, Hoppenreijs, E, Kamphuis, S, Flato, B, Nordal, Eb, Abdwani, R, Miraval, T, Paz Gastanaga, Me, Smolewska, E, Ailioaie, C, Cochino, Av, Laday, M, Lazar, C, Alexeeva, E, Chasnyk, V, Keltsev, V, Suwairi, Wm, Vijatov-Djuric, G, Vojinovic, J, Arkachaisri, T, Koskova, E, Avcin, T, Ally, M, Van Rensburg, Cj, Louw, I, Lopez, Ja, Boteanu, Al, Calvo Penades, I, De Inocencio, J, Mesa-Del-Castillo, P, Moreno, E, Remesal, A, Hofer, M, Gok, F, Ozen, S, Ramanan, A, Pallotti, C, Villa, L &amp, Paediatric Rheumatology International Trials Organisation, (PRINTO), Rigante D (ORCID:0000-0001-7032-7779), Giancane, G, Swart, Jf, Castagnola, E, Groll, Ah, Horneff, G, Huppertz, Hi, Lovell, Dj, Wolfs, T, Herlin, T, Dolezalova, P, Sanner, H, Susic, G, Sztajnbok, F, Maritsi, D, Constantin, T, Vargova, V, Sawhney, S, Rygg, M, K Oliveira, S, Cattalini, M, Bovis, F, Bagnasco, F, Pistorio, A, Martini, A, Wulffraat, N, Ruperto, N, Cuttica, R, Garay, Sm, Brunner, J, Emminger, W, Appenzeller, S, Len, C, Saad Magalhaes, C, Telcharova-Mihaylovska, A, Harjacek, M, Jelusic, M, Estmann, A, Nielsen, S, Herrera Mora, C, Gervais, E, Koné-Paut, I, Quartier, P, Foeldvari, I, Lutz, T, Minden, K, Tzaribachev, N, Trachana, M, Tsitsami, E, Vougiouka, O, Orban, I, Harel, L, Hashkes, P, Uziel, Y, Cimaz, R, Civino, A, Consolini, R, D'Angelo, G, De Benedetti, F, Filocamo, G, Fueri, E, Gallizzi, R, Maggio, Mc, Magnolia, Mg, Miniaci, A, Montin, D, Olivieri, An, Pastore, S, Rigante, Donato, Zulian, F, Rumba-Rozenfelde, I, Stanevicha, V, Panaviene, V, Rodriguez Lozano, Al, Rubio-Perez, N, Vega Cornejo, G, Hoppenreijs, E, Kamphuis, S, Flato, B, Nordal, Eb, Abdwani, R, Miraval, T, Paz Gastanaga, Me, Smolewska, E, Ailioaie, C, Cochino, Av, Laday, M, Lazar, C, Alexeeva, E, Chasnyk, V, Keltsev, V, Suwairi, Wm, Vijatov-Djuric, G, Vojinovic, J, Arkachaisri, T, Koskova, E, Avcin, T, Ally, M, Van Rensburg, Cj, Louw, I, Lopez, Ja, Boteanu, Al, Calvo Penades, I, De Inocencio, J, Mesa-Del-Castillo, P, Moreno, E, Remesal, A, Hofer, M, Gok, F, Ozen, S, Ramanan, A, Pallotti, C, Villa, L &amp, Paediatric Rheumatology International Trials Organisation, (PRINTO), and Rigante D (ORCID:0000-0001-7032-7779)

Abstract

BACKGROUND: To derive a list of opportunistic infections (OI) through the analysis of the juvenile idiopathic arthritis (JIA) patients in the Pharmachild registry by an independent Safety Adjudication Committee (SAC). METHODS: The SAC (3 pediatric rheumatologists and 2 pediatric infectious disease specialists) elaborated and approved by consensus a provisional list of OI for use in JIA. Through a 5 step-procedure, all the severe and serious infections, classified as per MedDRA dictionary and retrieved in the Pharmachild registry, were evaluated by the SAC by answering six questions and adjudicated with the agreement of 3/5 specialists. A final evidence-based list of OI resulted by matching the adjudicated infections with the provisional list of OI. RESULTS: A total of 772 infectious events in 572 eligible patients, of which 335 serious/severe/very severe non-OI and 437 OI (any intensity/severity), according to the provisional list, were retrieved. Six hundred eighty-two of 772 (88.3%) were adjudicated as infections, of them 603/682 (88.4%) as common and 119/682 (17.4%) as OI by the SAC. Matching these 119 opportunistic events with the provisional list, 106 were confirmed by the SAC as OI, and among them infections by herpes viruses were the most frequent (68%), followed by tuberculosis (27.4%). The remaining events were divided in the groups of non-OI and possible/patient and/or pathogen-related OI. CONCLUSIONS: We found a significant number of OI in JIA patients on immunosuppressive therapy. The proposed list of OI, created by consensus and validated in the Pharmachild cohort, could facilitate comparison among future pharmacovigilance studies.

Published
2020

26. Time to Switch to Second-line Antiretroviral Therapy in Children With Human Immunodeficiency Virus in Europe and Thailand

Author

Goetghebuer T, Hainaut M, Van der Kelen E, Delforge M, Warszawski J, Le Chenadec J, Ramos E, Dialla O, Wack T, Laurent C, Selmi L, Leymarie I, Benali F, Brossard M, Boufassa L, Floch-Tudal C, Firtion G, Hau I, Chace A, Bolot P, Blanche S, Granier M, Labrune P, Lachassine E, Dollfus C, Levine M, Fourcade C, Heller-Roussin B, Runel-Belliard C, Tricoire J, Monpoux F, Chirouze C, Reliquet V, Brouard J, Kebaili K, Fialaire P, Lalande M, Mazingue F, Partisani M, Koenigs C, Schultze-Strasser S, Baumann U, Niehues T, Neubert J, Kobbe R, Feiterna-Sperling C, Buchholz B, Notheis G, Spoulou V, Tovo P, Galli L, Chiappini E, Patrizia O, Larovere D, Ruggeri M, Faldella G, Baldi F, Badolato R, Montagnani C, Venturini E, Lisi C, Di Biagio A, Taramasso L, Giacomet V, Erba P, Esposito S, Lipreri R, Salvini F, Tagliabue C, Cellini M, Bruzzese E, Lo Vecchio A, Rampon O, Dona D, Romano A, Dodi I, Maccabruni A, Consolini R, Bernardi S, Genovese O, Olmeo P, Cristiano L, Mazza A, Garazzino S, Pellegatta A, Pajkrt D, Scherpbier H, Weijsenfeld A, van der Plas A, Jurriaans S, Back N, Zaaijer H, Berkhout B, Cornelissen M, Schinkel C, Wolthers K, Fraaij P, van Rossum A, van der Knaap L, Visser E, Boucher C, Koopmans M, van Kampen J, Pas S, Henriet S, de Flier M, van Aerde K, Strik-Albers R, Rahamat-Langendoen J, Stelma F, Scholvinck E, de Groot-de Jonge H, Niesters H, van Leer-Buter C, Knoester M, Bont L, Geelen S, Wolfs T, Nauta N, Ang C, van Houdt R, Pettersson A, Vandenbroucke-Grauls C, Reiss P, Bezemer D, van Sighem A, Smit C, Wit F, Boender T, Zaheri S, Hillebregt M, de Jong A, Bergsma D, Grivell S, Jansen A, Raethke M, Meijering R, de Groot L, van den Akker M, Bakker Y, Claessen E, El Berkaoui A, Koops J, Kruijne E, Lodewijk C, Munjishvili L, Peeck B, Ree C, Regtop R, Ruijs Y, Rutkens T, Schoorl M, Timmerman A, Tuijn E, Veenenberg L, van der Vliet S, Wisse A, Woudstra T, Tuk B, Marczynska M, Oldakowska A, Popielska J, Coupland U, Doroba M, Marques L, Teixeira C, Fernandes A, Prata F, Ene L, Gingaras C, Radoi R, Okhonskaia L, Voronin E, Miloenko M, Labutina S, Soler-Palacin P, Antoinette Frick M, Perez-Hoyos S, Mur A, Lopez N, Mendez M, Mayol L, Vallmanya T, Calavia O, Garcia L, Coll M, Pineda V, Rius N, Rovira N, Duenas J, Fortuny C, Noguera-Julian A, Jose Mellado M, Escosa L, Garcia Hortelano M, Sainz T, Isabel Gonzalez-Tome M, Rojo P, Blazquez D, Tomas Ramos J, Prieto L, Guillen S, Luisa Navarro M, Saavedra J, Santos M, Angeles Munoz M, Ruiz B, Fernandez Mc Phee C, Jimenez de Ory S, Alvarez S, Angel Roa M, Beceiro J, Martinez J, Badillo K, Apilanez M, Pocheville I, Garrote E, Colino E, Gomez Sirvent J, Garzon M, Roman V, Montesdeoca A, Mateo M, Jose Munoz M, Angulo R, Neth O, Falcon L, Terol P, Luis Santos J, Moreno D, Lendinez F, Grande A, Jose Romero F, Perez C, Lillo M, Losada B, Herranz M, Bustillo M, Guerrero C, Collado P, Antonio Couceiro J, Perez A, Isabel Piqueras A, Breton R, Segarra I, Gavilan C, Jareno E, Montesinos E, Dapena M, Alvarez C, Gloria Andres A, Marugan V, Ochoa C, Alfayate S, Isabel Menasalvas A, de Miguel E, Naver L, Soeria-Atmadja S, Hagas V, Aebi-Popp K, Asner S, Aubert V, Battegay M, Baumann M, Bernasconi E, Boni J, Brazzola P, Bucher H, Calmy A, Cavassini M, Ciuffi A, Duppenthaler A, Dollenmaier G, Egger M, Elzi L, Fehr J, Fellay J, Francini K, Furrer H, Fux C, Grawe C, Gunthard H, Haerry D, Hasse B, Hirsch H, Hoffmann M, Hosli I, Kahlert C, Kaiser L, Keiser O, Klimkait T, Kovari H, Kouyos R, Ledergerber B, Martinetti G, de Tejada M, Metzner K, Muller, Nicca D, Paioni P, Pantaleo G, Polli C, Posfay-Barbe K, Rauch A, Rudin C, Schmid P, Scherrer A, Speck R, Tarr P, Lecompte T, Trkola A, Vernazza P, Wagner N, Wandeler G, Weber R, Wyler C, Yerly S, Techakunakorn P, Prachanukroh C, Hansudewechakul R, Wanchaitanawong V, Theansavettrakul S, Nanta S, Ngampiyaskul C, Phanomcheong S, Hongsiriwon S, Karnchanamayul W, Chacheongsao B, Kwanchaipanich R, Kanjanavanit S, Prapinklao S, Kamonpakorn N, Nantarukchaikul M, Adulyadej B, Layangool P, Mekmullica J, Lucksanapisitkul P, Watanayothin S, Lertpienthum N, Warachit B, Hanpinitsak S, Potchalongsin S, Thanasiri P, Krikajornkitti S, Attavinijtrakarn P, Srirojana S, Bunjongpak S, Puangsombat A, Na-Rajsima S, Ananpatharachai P, Akarathum N, Phuket V, Lawtongkum W, Kheunjan P, Suriyaboon T, Saipanya A, Than-in-at K, Jaisieng N, Suaysod R, Chailoet S, Naratee N, Kawilapat S, Kaleeva T, Baryshnikova Y, Soloha S, Bashkatova N, Raus I, Glutshenko O, Ruban Z, Prymak N, Kiseleva G, Bailey H, Lyall H, Butler K, Doerholt K, Foster C, Klein N, Menson E, Riordan A, Shingadia D, Tudor-Williams G, Tookey P, Welch S, Collins I, Cook C, Dobson D, Fairbrother K, Gibb D, Judd A, Harper L, Parrott F, Tostevin A, Van Looy N, Walsh A, Scott S, Vaughan Y, Laycock N, Bernatoniene J, Finn A, Hutchison L, Sharpe G, Williams A, Lyall E, Seery P, Lewis P, Miles K, Subramaniam B, Hutchinson L, Ward P, Sloper K, Gopal G, Doherty C, Hague R, Price V, Bamford A, Bundy H, Clapson M, Flynn J, Novelli V, Ainsley-Walker P, Tovey P, Gurtin D, Garside J, Fall A, Porter D, Segal S, Ball C, Hawkins S, Chetcuti P, Dowie M, Bandi S, McCabe A, Eisenhut M, Handforth J, Roy P, Flood T, Pickering A, Liebeschuetz S, Kavanagh C, Murphy C, Rowson K, Tan T, Daniels J, Lees Y, Kerr E, Thompson F, Le Provost M, Cliffe L, Smyth A, Stafford S, Freeman A, Reddy T, Fidler K, Christie S, Gordon A, Rogahn D, Harris S, Collinson A, Jones L, Offerman B, Van Someren V, Benson C, Riddell A, O'Connor R, Brown N, Ibberson L, Shackley F, Faust S, Hancock J, Donaghy S, Prime K, Sharland M, Storey S, Gorman S, Monrose C, Walters S, Cross R, Broomhall J, Scott D, Stroobant J, Bridgwood A, McMaster P, Evans J, Gardiner T, Jones R, Gardiner K, European Pregnancy Paediat HIV Coh, Stichting HIV Monitoring, Centre de recherche en épidémiologie et santé des populations (CESP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Department of Sciences for Woman and Child's Health, Florence University, Dipartimento di Pediatria, Azienda Ospedaliera di Padova, Université Grenoble Alpes - UFR Pharmacie (UGA UFRP), Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Laboratoire Chrono-environnement - CNRS - UBFC (UMR 6249) (LCE), Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Pediatrics, and Virology

Subjects
Male, 0301 basic medicine, Time Factors, HIV, antiretroviral therapy, children, second-line, switch, [SDV]Life Sciences [q-bio], medicine.medical_treatment, Drug Resistance, INFANTS, HIV Infections, Cohort Studies, chemistry.chemical_compound, 0302 clinical medicine, Interquartile range, Antiretroviral Therapy, Highly Active, ADOLESCENTS, Cumulative incidence, Viral, Treatment Failure, 030212 general & internal medicine, Child, ComputingMilieux_MISCELLANEOUS, Antiretroviral therapy, Children, Second-line, Switch, Age Factors, Anti-HIV Agents, Child, Preschool, Drug Resistance, Viral, Drug Substitution, Europe, Female, Humans, Infant, Reverse Transcriptase Inhibitors, Thailand, Viral Load, Reverse-transcriptase inhibitor, Immunosuppression, OPEN-LABEL, VIROLOGICAL FAILURE, 3. Good health, Infectious Diseases, Viral load, medicine.drug, Microbiology (medical), medicine.medical_specialty, Efavirenz, Nevirapine, SCALE-UP, Article, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Internal medicine, medicine, Highly Active, Preschool, business.industry, HIV-1 DRUG-RESISTANCE, ADULTS, 030112 virology, RANDOMIZED-TRIAL, Regimen, INFECTED CHILDREN, VIRAL LOAD, chemistry, business
Abstract

Background. Data on durability of first-line antiretroviral therapy (ART) in children with human immunodeficiency virus (HIV) are limited. We assessed time to switch to second-line therapy in 16 European countries and Thailand.Methods. Children aged = 2 nucleoside reverse transcriptase inhibitors p[NRTIs] plus nonnucleoside reverse transcriptase inhibitor p[NNRTI] or boosted protease inhibitor p[PI]) were included. Switch to second-line was defined as (i) change across drug class (PI to NNRTI or vice versa) or within PI class plus change of >= 1 NRTI; (ii) change from single to dual PI; or (iii) addition of a new drug class. Cumulative incidence of switch was calculated with death and loss to follow-up as competing risks.Results. Of 3668 children included, median age at ART initiation was 6.1 (interquartile range (IQR), 1.7-10.5) years. Initial regimens were 32% PI based, 34% nevirapine (NVP) based, and 33% efavirenz based. Median duration of follow-up was 5.4 (IQR, 2.9-8.3) years. Cumulative incidence of switch at 5 years was 21% (95% confidence interval, 20%-23%), with significant regional variations. Median time to switch was 30 (IQR, 16-58) months; two-thirds of switches were related to treatment failure. In multivariable analysis, older age, severe immunosuppression and higher viral load (VL) at ART start, and NVP-based initial regimens were associated with increased risk of switch.Conclusions. One in 5 children switched to a second-line regimen by 5 years of ART, with two-thirds failure related. Advanced HIV, older age, and NVP-based regimens were associated with increased risk of switch.

Published
2017
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28. Psychopathological Impact in Patients with History of Rheumatic Fever with or without Sydenham's Chorea: A Multicenter Prospective Study.

Author

Orsini A, Foiadelli T, Sica A, Santangelo A, Carli N, Bonuccelli A, Consolini R, D'Elios S, Loddo N, Verrotti A, Di Cara G, Marra C, Califano M, Fetta A, Fabi M, Bergamoni S, Vignoli A, Battini R, Mosca M, Baldini C, Assanta N, Marchese P, Simonini G, Marrani E, Operto FF, Pastorino GMG, Savasta S, Santangelo G, Pedrinelli V, Massimetti G, Dell'Osso L, Peroni D, Cordelli DM, Corsi M, and Carmassi C

Subjects
Humans, Prospective Studies, Psychopathology, Chorea diagnosis, Chorea epidemiology, Mental Disorders epidemiology, Rheumatic Fever epidemiology
Abstract

Sydenham's chorea (SC) is a post-streptococcal autoimmune disorder of the central nervous system, and it is a major criterium for the diagnosis of acute rheumatic fever (ARF). SC typically improves in 12-15 weeks, but patients can be affected for years by persistence and recurrencies of both neurological and neuropsychiatric symptoms. We enrolled 48 patients with a previous diagnosis of ARF, with or without SC, in a national multicenter prospective study, to evaluate the presence of neuropsychiatric symptoms several years after SC's onset. Our population was divided in a SC group (n = 21), consisting of patients who had SC, and a nSC group (n = 27), consisting of patients who had ARF without SC. Both groups were evaluated by the administration of 8 different neuropsychiatric tests. The Work and Social Adjustment Scale (WSAS) showed significantly ( p = 0.021) higher alterations in the SC group than in the nSC group. Furthermore, 60.4% (n = 29) of the overall population experienced neuropsychiatric symptoms other than choreic movements at diagnosis and this finding was significantly more common ( p = 0.00) in SC patients (95.2%) than in nSC patients (33.3%). The other neuropsychiatric tests also produced significant results, indicating that SC can exert a strong psychopathological impact on patients even years after its onset.

Published
2022
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29. Clinical factors distinguishing between pediatric tumors with arthritis at onset and JIA: preliminary analysis of the ONCOREUM study

Author

Civino, A, Alighieri, G, Rondelli, R, Magni-Manzoni, S, Romano, M, Filocamo, G, Santarelli, F, Ricci, F, Olivieri, An, Pastore, S, Barone, P, Gallizzi, R, Miniaci, A, Marsili, M, Podda, R, Lattanzi, B, Maggio, Mc, Consolini, R, La Torre, F, Pelagatti, Ma, Soscia, F, De Fanti, A, Rigante, D (ORCID:0000-0001-7032-7779), Prete, E, Stabile, G, Roncadori, A, Lepore, L, Conter, V, Pession, A, Ravelli, A, Civino, A, Alighieri, G, Rondelli, R, Magni-Manzoni, S, Romano, M, Filocamo, G, Santarelli, F, Ricci, F, Olivieri, An, Pastore, S, Barone, P, Gallizzi, R, Miniaci, A, Marsili, M, Podda, R, Lattanzi, B, Maggio, Mc, Consolini, R, La Torre, F, Pelagatti, Ma, Soscia, F, De Fanti, A, Rigante, D (ORCID:0000-0001-7032-7779), Prete, E, Stabile, G, Roncadori, A, Lepore, L, Conter, V, Pession, A, and Ravelli, A

Abstract

Background/Purpose: Musculoskeletal (MSK) symptoms are a common presenting complaint in pediatric primary care (estimated prevalence 25-50%) and may be the initial manifestation of cancer in rare cases. An articular involvement has been observed in about 20% of onset leukemias, with pictures that can mimic juvenile idiopathic arthritis (JIA) leading to inappropriate steroid or immunosuppressive therapy and diagnostic delay. The primary objective of this study is to assess the prevalence and features of MSK symptoms at the onset of pediatric tumors. The secondary objective is to identify predictors of malignancy comparing tumors with MSK symptoms at onset and new cases of JIA diagnosed in the same period Methods: The ONCOREUM is a multicenter, observational, cross-sectional study conducted between 2015 and 2018 by 25 Centers of the Italian Association of Pediatric Hematology and Oncology (AIEOP) and 22 Rheumatological Centers of the Italian Society of Pediatrics (SIP). A web based data collection within the AIEOP platform managed by CINECA was performed after local ethics committees approval and written informed consent. We analyzed clinical and laboratory data of patients (pts) < 16 years of age with new diagnosis of tumors or JIA. The data were compare dusing χ² for categorical variables and t-test, Welch’s test, or Mann-Whitney U test for continuous variables. Statistical analysis was performed by the open source statistical software R. Results: We considered eligible 1928 pts: 655 of them were affected by JIA and 1273 by tumor. MSK symptoms at onset were found in 25% of cases of tumors, articular involvement (arthritis and/or arthralgia) in 16% and arthritis in 8% (Fig. 1). An initial rheumatological diagnosis was suspected in 9% (29/322) of tumors with MSK symptoms and in 17% (17/102) of tumors with arthritis at onset. The highest frequency of initial rheumatic suspicion was found in neuroblastoma (5/21), Langerhans histiocytosis (3/16) and leukemia (17/188).

Published
2019

30. Clinical, immunological, and molecular features of typical and atypical severe combined immunodeficiency: Report of the italian primary immunodeficiency network

Author

Cirillo, E., Cancrini, C., Azzari, C., Martino, S., Martire, B., Pession, A., Tommasini, A., Naviglio, S., Finocchi, A., Consolini, R., Pierani, P., D'Alba, I., Putti, M. C., Marzollo, A., Giardino, G., Prencipe, R., Esposito, F., Grasso, F., Scarselli, A., Di Matteo, G., Attardi, E., Ricci, S., Montin, D., Specchia, F., Barzaghi, F., Cicalese, M. P., Quaremba, G., Lougaris, V., Giliani, S., Locatelli, Franco, Rossi, P., Aiuti, A., Badolato, R., Plebani, A., Pignata, C., Locatelli F. (ORCID:0000-0002-7976-3654), Cirillo, E., Cancrini, C., Azzari, C., Martino, S., Martire, B., Pession, A., Tommasini, A., Naviglio, S., Finocchi, A., Consolini, R., Pierani, P., D'Alba, I., Putti, M. C., Marzollo, A., Giardino, G., Prencipe, R., Esposito, F., Grasso, F., Scarselli, A., Di Matteo, G., Attardi, E., Ricci, S., Montin, D., Specchia, F., Barzaghi, F., Cicalese, M. P., Quaremba, G., Lougaris, V., Giliani, S., Locatelli, Franco, Rossi, P., Aiuti, A., Badolato, R., Plebani, A., Pignata, C., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Severe combined immunodeficiencies (SCIDs) are a group of inborn errors of the immune system, usually associated with severe or life-threatening infections. Due to the variability of clinical phenotypes, the diagnostic complexity and the heterogeneity of the genetic basis, they are often difficult to recognize, leading to a significant diagnostic delay (DD). Aim of this study is to define presenting signs and natural history of SCID in a large cohort of patients, prior to hematopoietic stem cell or gene therapies. To this purpose, we conducted a 30-year retro-prospective multicenter study within the Italian Primary Immunodeficiency Network. One hundred eleven patients, diagnosed as typical or atypical SCID according to the European Society for Immune Deficiencies criteria, were included. Patients were subsequently classified based on the genetic alteration, pathogenic mechanism and immunological classification. A positive relationship between the age at onset and the DD was found. SCID patients with later onset were identified only in the last decade of observation. Syndromic SCIDs represented 28% of the cohort. Eight percent of the subjects were diagnosed in Intensive Care Units. Fifty-three percent had an atypical phenotype and most of them exhibited a discordant genotype-immunophenotype. Pre-treatment mortality was higher in atypical and syndromic patients. Our study broadens the knowledge of clinical and laboratory manifestations and genotype/phenotype correlation in patients with SCID and may facilitate the diagnosis of both typical and atypical forms of the disease in countries where newborn screening programs have not yet been implemented.

Published
2019

31. Phenotypic variability and disparities in treatment and outcomes of childhood arthritis throughout the world: an observational cohort study

Author

Consolaro, A, Giancane, G, Alongi, A, van Dijkhuizen, Ehp, Aggarwal, A, Al-Mayouf, Sm, Bovis, F, De Inocencio, J, Demirkaya, E, Flato, B, Foell, D, Garay, Sm, Lazăr, C, Lovell, Dj, Montobbio, C, Miettunen, P, Mihaylova, D, Nielsen, S, Orban, I, Rumba-Rozenfelde, I, Magalhães, C, Shafaie, N, Susic, G, Trachana, M, Wulffraat, N, Pistorio, A, Martini, A, Ruperto, N, Ravelli, A &amp, Abdwani R, Aghighi, Y, Aiche, Mf, Ailioaie, C, Aktay Ayaz, N, Al-Abrawi, S, Alexeeva, E, Anton, J, Apostol, A, Arguedas, O, Avcin, T, Barone, P, Berntson, L, Boteanu, Al, Boyko, Y, Burgos-Vargas, R, Calvo Penades, I, Chédeville, G, Cimaz, R, Civino, A, Consolini, R, Constantin, T, Cuttica, R, Dallos, T, Martin, N, Magni-Manzoni, S, De Cunto, C, Dolezalova, P, Ekelund, M, El Miedany, Y, Espada, G, Estmann Christensen, A, Foeldvari, I, Gallizzi, R, Ganser, G, Gerloni, V, Haas, Jp, Harel, L, Harjacek, M, Hashad, S, Herlin, T, Herrera, C, Hofer, M, Holzinger, D, Horneff, G, Huppertz, Hi, Iagăru, N, Ibanez Estrella, A, Ioseliani, M, Joos, R, Knupp Oliveira, S, Kamphuis, S, Kasapcopur, O, Katsicas, Mm, Khubchandani, R, Kondi, A, Kröger, L, La Torre, F, Laday, M, Lahdenne, P, Maggio, Mc, Magnolia, Mg, Malagon, C, Malin, M, Martino, S, Melo-Gomes, Ja, Mesa-Del-Castillo, P, Militaru, A, Minden, K, Miniaci, A, Moradinejad, Mh, Morel Ayala, Z, Nikishina, I, Norambuena, X, Nordal, Eb, Pagava, K, Panaviene, V, Pastore, S, Pieropan, S, Podda, Ra, Pruunsild, C, Putto-Laurila, A, Quartier, P, Remesal, A, Rigante, Donato, Ringold, S, Rutkowska-Sak, L, Rygg, M, Saurenmann, Rk, Sawhney, S, Scott, C, Shiari, R, Smolewska, E, Sozeri, B, Swart, Jf, Sztajnbok, F, Torcoletti, M, Tsitsami, E, Tzaribachev, N, Unsal, E, Uziel, Y, Vähäsalo, P, Varbanova, B, Vargova, V, Vesely, R, Vijatov-Djuric, G, Vilaiyuk, S, Vojinovic, J, Vougiouka, O, Weiss, P, Wouters, C, Rigante D (ORCID:0000-0001-7032-7779), Consolaro, A, Giancane, G, Alongi, A, van Dijkhuizen, Ehp, Aggarwal, A, Al-Mayouf, Sm, Bovis, F, De Inocencio, J, Demirkaya, E, Flato, B, Foell, D, Garay, Sm, Lazăr, C, Lovell, Dj, Montobbio, C, Miettunen, P, Mihaylova, D, Nielsen, S, Orban, I, Rumba-Rozenfelde, I, Magalhães, C, Shafaie, N, Susic, G, Trachana, M, Wulffraat, N, Pistorio, A, Martini, A, Ruperto, N, Ravelli, A &amp, Abdwani R, Aghighi, Y, Aiche, Mf, Ailioaie, C, Aktay Ayaz, N, Al-Abrawi, S, Alexeeva, E, Anton, J, Apostol, A, Arguedas, O, Avcin, T, Barone, P, Berntson, L, Boteanu, Al, Boyko, Y, Burgos-Vargas, R, Calvo Penades, I, Chédeville, G, Cimaz, R, Civino, A, Consolini, R, Constantin, T, Cuttica, R, Dallos, T, Martin, N, Magni-Manzoni, S, De Cunto, C, Dolezalova, P, Ekelund, M, El Miedany, Y, Espada, G, Estmann Christensen, A, Foeldvari, I, Gallizzi, R, Ganser, G, Gerloni, V, Haas, Jp, Harel, L, Harjacek, M, Hashad, S, Herlin, T, Herrera, C, Hofer, M, Holzinger, D, Horneff, G, Huppertz, Hi, Iagăru, N, Ibanez Estrella, A, Ioseliani, M, Joos, R, Knupp Oliveira, S, Kamphuis, S, Kasapcopur, O, Katsicas, Mm, Khubchandani, R, Kondi, A, Kröger, L, La Torre, F, Laday, M, Lahdenne, P, Maggio, Mc, Magnolia, Mg, Malagon, C, Malin, M, Martino, S, Melo-Gomes, Ja, Mesa-Del-Castillo, P, Militaru, A, Minden, K, Miniaci, A, Moradinejad, Mh, Morel Ayala, Z, Nikishina, I, Norambuena, X, Nordal, Eb, Pagava, K, Panaviene, V, Pastore, S, Pieropan, S, Podda, Ra, Pruunsild, C, Putto-Laurila, A, Quartier, P, Remesal, A, Rigante, Donato, Ringold, S, Rutkowska-Sak, L, Rygg, M, Saurenmann, Rk, Sawhney, S, Scott, C, Shiari, R, Smolewska, E, Sozeri, B, Swart, Jf, Sztajnbok, F, Torcoletti, M, Tsitsami, E, Tzaribachev, N, Unsal, E, Uziel, Y, Vähäsalo, P, Varbanova, B, Vargova, V, Vesely, R, Vijatov-Djuric, G, Vilaiyuk, S, Vojinovic, J, Vougiouka, O, Weiss, P, Wouters, C, and Rigante D (ORCID:0000-0001-7032-7779)

Abstract

BACKGROUND: To our knowledge, the characteristics and burden of childhood arthritis have never been studied on a worldwide basis. We aimed to investigate, with a cross-sectional study, the prevalence of disease categories, treatment methods, and disease status in patients from across different geographical areas and from countries with diverse wealth status. METHODS: In this multinational, cross-sectional, observational cohort study, we asked international paediatric rheumatologists from specialised centres to enrol children with a diagnosis of juvenile idiopathic arthritis, according to International League of Associations for Rheumatology criteria, who were seen consecutively for a period of 6 months. Each patient underwent retrospective and cross-sectional assessments, including measures of disease activity and damage and questionnaires on the wellbeing and quality of life of the children. We qualitatively compared the collected data across eight geographical areas, and we explored an association between disease activity and damage and a country's gross domestic product (GDP) with a multiple logistic regression analysis. FINDINGS: Between April 4, 2011, and Nov 21, 2016, 9081 patients were enrolled at 130 centres in 49 countries, grouped into eight geographical areas. Systemic arthritis (125 [33·0%] of 379 patients) and enthesitis-related arthritis (113 [29·8%] of 379) were more common in southeast Asia, whereas oligoarthritis was more prevalent in southern Europe (1360 [56·7%] of 2400) and rheumatoid factor-negative polyarthritis was more frequent in North America (165 [31·5%] of 523) than in the other areas. Prevalence of uveitis was highest in northern Europe (161 [19·1%] of 845 patients) and southern Europe (450 [18·8%] of 2400) and lowest in Latin America (54 [6·4%] of 849), Africa and Middle East (71 [5·9%] of 1209), and southeast Asia (19 [5·0%] of 379). Median age at disease onset was lower in southern Europe (3·5 years, IQR 1·9-7·3) than in other regions

Published
2019

32. Beyond Infections: New Warning Signs for Inborn Errors of Immunity in Children.

Author

Costagliola G, Peroni DG, and Consolini R

Abstract

Patients with inborn errors of immunity (IEI) are susceptible to developing a severe infection-related clinical phenotype, but the clinical consequences of immune dysregulation, expressed with autoimmunity, atopy, and lymphoproliferation could represent the first sign in a significant percentage of patients. Therefore, during the diagnostic work-up patients with IEI are frequently addressed to different specialists, including endocrinologists, rheumatologists, and allergologists, often resulting in a delayed diagnosis. In this paper, the most relevant non-infectious manifestations of IEI are discussed. Particularly, we will focus on the potential presentation of IEI with autoimmune cytopenia, non-malignant lymphoproliferation, severe eczema or erythroderma, autoimmune endocrinopathy, enteropathy, and rheumatologic manifestations, including vasculitis and systemic lupus erythematosus. This paper aims to identify new warning signs to suspect IEI and help in the identification of patients presenting with atypical/non-infectious manifestations., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Costagliola, Peroni and Consolini.)

Published
2022
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33. Case Report: MIS-C With Prominent Hepatic and Pancreatic Involvement in a Vaccinated Adolescent - A Critical Reasoning.

Author

Consolini R, Costagliola G, Spada E, Colombatto P, Orsini A, Bonuccelli A, Brunetto MR, and Peroni DG

Abstract

Multisystem inflammatory syndrome in children (MIS-C) is a pathologic condition that has emerged during the coronavirus disease 2019 (COVID-19) pandemic. Although the epidemiological evidence of association between MIS-C and SARS-CoV-2 infection has been demonstrated, its pathogenic mechanism is still undefined. We describe the case of a 17-year old female, previously vaccinated against SARS-CoV-2, presenting with a history of asthenia, fever, cough, anorexia, abdominal pain, and vomiting. During the hospitalization, the patient developed bilateral conjunctivitis, hand vasculitis, cutaneous rash, and multiple pulmonary nodules, following by hepatitis and pancreatitis. As she reported a high-risk contact with a SARS-CoV-2 positive patient 10 days before admission, the epidemiological link and the clinical picture characterized by multi-system organ disfunction and inflammatory biomarkers increase led us to the diagnosis of MIS-C. Therefore, the patient was treated with intravenous immunoglobulin and corticosteroids, resulting in a rapid resolution of fever, cutaneous, and pulmonary involvement, while the recovery of hepatitis and pancreatitis was observed in the following weeks. This case leads to the discussion on whether SARS-CoV-2 immunized children and adolescents should be considered at risk of developing MIS-C and on their possible presentation with non-classic clinical features. Additionally, due to the increasing number of vaccinated children and adolescents, the issues resulting either from the diagnostic suspect of MIS-C or from the consequent need of an early therapeutic approach are discussed., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Consolini, Costagliola, Spada, Colombatto, Orsini, Bonuccelli, Brunetto and Peroni.)

Published
2022
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34. OBSIDIAN - real-world evidence of originator to biosimilar drug switch in juvenile idiopathic arthritis.

Author

Maccora I, Lombardi N, Crescioli G, Bettiol A, Bonaiuti R, Pagnini I, Maniscalco V, Marrani E, Mastrolia MV, Ravaldi C, Consolini R, Cattalini M, Vannacci A, and Simonini G

Subjects
Adalimumab adverse effects, Child, Cohort Studies, Drug Substitution methods, Etanercept adverse effects, Female, Glass, Humans, Prospective Studies, Treatment Outcome, Antirheumatic Agents adverse effects, Arthritis, Juvenile drug therapy, Biosimilar Pharmaceuticals adverse effects
Abstract

Objectives: Limited data about use of biosimilars (BIOs) are available in children with JIA. This study therefore aimed to evaluate long-term efficacy and safety of switching from etanercept (ETA) and adalimumab (ADA) originators to their biosimilars (BIOs), in children with JIA, in a real-world setting., Methods: This is a retro-prospective non-interventional multicentre Italian comparative cohort study. Medical charts of JIA children treated with biosimilars of ETA or ADA were included. Efficacy and safety of TNF-inhibitors therapy was evaluated at last follow-up during originator and at 3, 6 and 12 months following the switch to biosimilar., Results: A total of 59 children (42 female, median age at onset 88 months) were treated with biosimilar of ETA (21) and ADA (38). Forty-five switched from the originator to the BIO (17 ETA, 28 ADA). At time of switch, 12/17 patients on ETA and 18/28 on ADA were in remission. No significant difference has been found at 3, 6 and 12 months after the switch. Ten patients discontinued biosimilars due to disease remission (4 ETA, 3 ADA), family willing (1 ETA), occurrence of burning at injection site (1 ETA) and persistent activity (1 ADA). No statistically significant difference was observed between originator and BIOs, nor between originator and BIOs, and between ADA and ETA in time to disease remission achievement, time to relapse and number of patients who experienced adverse event (AE)., Conclusion: Our real-life results seem to confirm the efficacy and safety profile of switching from originator of ADA and ETA to their respective BIOs, also in paediatric patients with JIA., (© The Author(s) 2021. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Published
2022
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35. Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion.

Author

Alberio AMQ, Legitimo A, Bertini V, Baroncelli GI, Costagliola G, Valetto A, and Consolini R

Abstract

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a primary immunodeficiency characterized by a broad and heterogeneous clinical presentation associated with various degrees of T-cell deficiency. We report the clinical, immunologic, and genetic findings of a cohort of eight patients presenting with a clinical phenotype that is highly suggestive of this syndrome but without the 22q11.2 deletion. The cardinal features of 22q11.2DS, such as congenital heart defects, hypoparathyroidism, and facial dysmorphisms, were observed in the majority of the patient cohort. The unusual features are described in detail. The immunologic assessment showed various degrees of immunodeficiency of the T-cell compartment, notably a reduction in the thymic output. Half of the patient cohort exhibited a reduction in total dendritic cells. Array comparative genomic hybridization (CGH) revealed six patients harboring copy number variations (CNVs) never reported in normal subjects. The gene content of these CNVs was carefully analyzed to understand the mechanisms leading to 22q11.2DS phenocopies. According to these results, we suggested that array-CGH should be used as a first-tier tool for patients resembling 22q11.2DS.

Published
2022
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36. Therapeutic aspects of Sydenham's Chorea: an update.

Author

Depietri G, Carli N, Sica A, Oliviero D, Costagliola G, Striano P, Bonuccelli A, Frisone F, Peroni D, Consolini R, Foiadelli T, and Orsini A

Subjects
Humans, Knowledge, Uncertainty, Writing, Chorea diagnosis, Chorea drug therapy, Chorea etiology, Rheumatic Fever complications, Rheumatic Fever diagnosis, Rheumatic Fever therapy
Abstract

Sydenham's Chorea (SC) is a hyperkinetic movement disorder associated with neuropsychiatric manifestations. It is believed to be caused by the autoimmune response following a group A beta-hemolytic streptococcal (GABHS) pharyngitis, and it is one of the major diagnostic criteria for Acute Rheumatic Fever (ARF) diagnosis. Despite having been known and studied for centuries, there are still no standardized therapies or official guidelines for SC treatment, so that it is necessarily left to physicians' clinical experience. Antibiotic treatment, symptomatic therapies, and immunomodulatory treatment are the three pillars upon which SC patients' management is currently based, but they still lack a solid scientific basis. The aim of this writing is precisely to review the state of the art of SC's treatment, with an overview of the advances made in the last 5 years. However, since the therapeutic uncertainties are a mere reflection of the severe gap of knowledge that concerns SC's pathogenesis and manifestations, the importance of high-quality research studies based on homogenized methodologies, instruments, and measured outcomes will also be stressed.

Published
2022
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37. Targeting Inflammatory Mediators in Epilepsy: A Systematic Review of Its Molecular Basis and Clinical Applications.

Author

Costagliola G, Depietri G, Michev A, Riva A, Foiadelli T, Savasta S, Bonuccelli A, Peroni D, Consolini R, Marseglia GL, Orsini A, and Striano P

Abstract

Introduction: Recent studies prompted the identification of neuroinflammation as a potential target for the treatment of epilepsy, particularly drug-resistant epilepsy, and refractory status epilepticus. This work provides a systematic review of the clinical experience with anti-cytokine agents and agents targeting lymphocytes and aims to evaluate their efficacy and safety for the treatment of refractory epilepsy. Moreover, the review analyzes the main therapeutic perspectives in this field., Methods: A systematic review of the literature was conducted on MEDLINE database. Search terminology was constructed using the name of the specific drug (anakinra, canakinumab, tocilizumab, adalimumab, rituximab, and natalizumab) and the terms "status epilepticus," "epilepsy," and "seizure." The review included clinical trials, prospective studies, case series, and reports published in English between January 2016 and August 2021. The number of patients and their age, study design, specific drugs used, dosage, route, and timing of administration, and patients outcomes were extracted. The data were synthesized through quantitative and qualitative analysis., Results: Our search identified 12 articles on anakinra and canakinumab, for a total of 37 patients with epilepsy (86% febrile infection-related epilepsy syndrome), with reduced seizure frequency or seizure arrest in more than 50% of the patients. The search identified nine articles on the use of tocilizumab (16 patients, 75% refractory status epilepticus), with a high response rate. Only one reference on the use of adalimumab in 11 patients with Rasmussen encephalitis showed complete response in 45% of the cases. Eight articles on rituximab employment sowed a reduced seizure burden in 16/26 patients. Finally, one trial concerning natalizumab evidenced a response in 10/32 participants., Conclusion: The experience with anti-cytokine agents and drugs targeting lymphocytes in epilepsy derives mostly from case reports or series. The use of anti-IL-1, anti-IL-6, and anti-CD20 agents in patients with drug-resistant epilepsy and refractory status epilepticus has shown promising results and a good safety profile. The experience with TNF inhibitors is limited to Rasmussen encephalitis. The use of anti-α4-integrin agents did not show significant effects in refractory focal seizures. Concerning research perspectives, there is increasing interest in the potential use of anti-chemokine and anti-HMGB-1 agents., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Costagliola, Depietri, Michev, Riva, Foiadelli, Savasta, Bonuccelli, Peroni, Consolini, Marseglia, Orsini and Striano.)

Published
2022
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38. The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry

Author

Haar, N. Ter, Jeyaratnam, J., Lachmann, H.J., Simon, A., Brogan, P.A., Doglio, M., Cattalini, M., Anton, J., Modesto, C., Quartier, P., Hoppenreijs, E.P., Martino, S., Insalaco, A., Cantarini, L., Lepore, L., Alessio, M., Calvo Penades, I., Boros, C., Consolini, R., Rigante, D., Russo, R., Pachlopnik Schmid, J., Lane, T., Martini, A., Ruperto, N., Frenkel, J., Gattorno, M., ter Haar, N. M., Jeyaratnam, J., Lachmann, H. J., Simon, A., Brogan, P. A., Doglio, M., Cattalini, M., Anton, J., Modesto, C., Quartier, P., Hoppenreijs, E., Martino, S., Insalaco, A., Cantarini, L., Lepore, L., Alessio, M., Calvo Penades, I., Boros, C., Consolini, R., Rigante, D., Russo, R., Pachlopnik Schmid, J., Lane, T., Martini, A., Ruperto, N., Frenkel, J., and Gattorno, M.

Subjects
Diarrhea, Male, Adolescent, Genotype, Vomiting, Immunology, Lymphadenopathy, Mevalonic Aciduria, Eurofever Project, Hereditary Autoinflammatory Disease, Hyper IgD syndrome, Mevalonate Kinase Deficiency, Mevalonic Aciduria, Skin Diseases, Uveitis, Rheumatology, Cerebellar Diseases, Intellectual Disability, Journal Article, Immunology and Allergy, Humans, Registries, Hyper IgD syndrome, Age of Onset, Child, Preschool, Eurofever Project, Retrospective Studies, Stomatitis, Arthritis, Infant, Newborn, Headache, Infant, Pharyngitis, Amyloidosis, Myalgia, Aphthous, Conjunctivitis, Newborn, Arthralgia, Hereditary Autoinflammatory Disease, Abdominal Pain, Phosphotransferases (Alcohol Group Acceptor), Phenotype, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Stomatitis, Aphthous, Female, Mevalonate Kinase Deficiency, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5]
Abstract

OBJECTIVE: Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe the genotype, phenotype, and response to treatment in an international cohort of MKD patients. METHODS: All MKD cases were extracted from the Eurofever registry (Executive Agency for Health and Consumers project no. 2007332), an international, multicenter registry that retrospectively collects data on children and adults with autoinflammatory diseases. RESULTS: The study included 114 MKD patients. The median age at onset was 0.5 years. Patients had on average 12 episodes per year. Most patients had gastrointestinal symptoms (n = 112), mucocutaneous involvement (n = 99), lymphadenopathy (n = 102), or musculoskeletal symptoms (n = 89). Neurologic symptoms included headache (n = 43), cerebellar syndrome (n = 2), and mental retardation (n = 4). AA amyloidosis was noted in 5 patients, almost twice as many as expected from findings in previous cohorts. Macrophage activation syndrome occurred in 1 patient. Patients were generally well between attacks, but 10-20% of the patients had constitutional symptoms, such as fatigue, between fever episodes. Patients with p.V377I/p.I268T compound heterozygosity had AA amyloidosis significantly more often. Patients without a p.V377I mutation more often had severe musculoskeletal involvement. Treatment with nonsteroidal antiinflammatory drugs relieved symptoms. Steroids given during attacks, anakinra, and etanercept appeared to improve symptoms and could induce complete remission in patients with MKD. CONCLUSION: We describe the clinical and genetic characteristics of 114 MKD patients, which is the largest cohort studied so far. The clinical manifestations confirm earlier reports. However, the prevalence of AA amyloidosis is far higher than expected.

Published
2016

39. Correction: A national cohort study on pediatric Behçet's disease: Cross-sectional data from an Italian registry [Pediatr Rheumatol., 15, (2017) (84)] DOI: 10.1186/s12969-017-0213-x

Author

Gallizzi, R., Pidone, C., Cantarini, L., Finetti, M., Cattalini, M., Filocamo, G., Insalaco, A., Rigante, D., Consolini, R., Maggio, M. C., Civino, A., Martino, S., Olivieri, A. N., Fabio, G., Pastore, S., Mauro, A., Sutera, D., Trimarchi, G., Ruperto, N., Gattorno, M., Cimaz, R., Rigante D. (ORCID:0000-0001-7032-7779), Gallizzi, R., Pidone, C., Cantarini, L., Finetti, M., Cattalini, M., Filocamo, G., Insalaco, A., Rigante, D., Consolini, R., Maggio, M. C., Civino, A., Martino, S., Olivieri, A. N., Fabio, G., Pastore, S., Mauro, A., Sutera, D., Trimarchi, G., Ruperto, N., Gattorno, M., Cimaz, R., and Rigante D. (ORCID:0000-0001-7032-7779)

Abstract

Following publication of the original article [1], the authors reported that the names of two institutional authors - EUROFEVER and the Paediatric Rheumatology International Trials Organisation (PRINTO) - had been unintentionally omitted in the final online version of the manuscript. The corrected author list is shown in this Correction.

Published
2018

40. Correction to: The Italian version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR) (Rheumatology International, (2018), 38, S1, (251-258), 10.1007/s00296-018-3960-1)

Author

Consolaro, A., Bovis, F., Pistorio, A., Cimaz, R., De Benedetti, F., Miniaci, A., Corona, F., Gerloni, V., Martino, S., Pastore, S., Barone, P., Pieropan, S., Cortis, E., Podda, R. A., Gallizzi, R., Civino, A., La Torre, F., Rigante, Donato, Consolini, R., Maggio, M. C., Magni-Manzoni, S., Perfetti, F., Filocamo, G., Toppino, C., Licciardi, F., Garrone, M., Scala, S., Patrone, E., Tonelli, M., Tani, D., Ravelli, A., Martini, A., Ruperto, N., Rigante D. (ORCID:0000-0001-7032-7779), Consolaro, A., Bovis, F., Pistorio, A., Cimaz, R., De Benedetti, F., Miniaci, A., Corona, F., Gerloni, V., Martino, S., Pastore, S., Barone, P., Pieropan, S., Cortis, E., Podda, R. A., Gallizzi, R., Civino, A., La Torre, F., Rigante, Donato, Consolini, R., Maggio, M. C., Magni-Manzoni, S., Perfetti, F., Filocamo, G., Toppino, C., Licciardi, F., Garrone, M., Scala, S., Patrone, E., Tonelli, M., Tani, D., Ravelli, A., Martini, A., Ruperto, N., and Rigante D. (ORCID:0000-0001-7032-7779)

Abstract

The family name of author Francesco La Torre was incorrect in the published article. The correct family name should read as La Torre F.

Published
2018

41. The Italian version of the juvenile arthritis multidimensional assessment report (JAMAR)

Author

Consolaro, A, Bovis, F, Pistorio, A, Cimaz, R, De Benedetti, F, Miniaci, A, Corona, F, Gerloni, F, Martino, S, Pastore, S, Barone, P, Pieropan, S, Cortis, E, Podda, Ra, Gallizzi, R, Civino, A, La Torre, F, Rigante, Donato, Consolini, R, Maggio, Mc, Magni-Manzoni, S, Perfetti, F, Toppino, C, Licciardi, F, Garrone, M, Scala, S, Patrone, E, Tonelli, M, Tani, D, Ravelli, A, Martini, A, Ruperto, N, Rigante D (ORCID:0000-0001-7032-7779), Consolaro, A, Bovis, F, Pistorio, A, Cimaz, R, De Benedetti, F, Miniaci, A, Corona, F, Gerloni, F, Martino, S, Pastore, S, Barone, P, Pieropan, S, Cortis, E, Podda, Ra, Gallizzi, R, Civino, A, La Torre, F, Rigante, Donato, Consolini, R, Maggio, Mc, Magni-Manzoni, S, Perfetti, F, Toppino, C, Licciardi, F, Garrone, M, Scala, S, Patrone, E, Tonelli, M, Tani, D, Ravelli, A, Martini, A, Ruperto, N, and Rigante D (ORCID:0000-0001-7032-7779)

Abstract

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Italian language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the 3 Likert assumptions, floor/ceiling effects, internal consistency, Cronbach’s alpha, interscale correlations, test-retest reliability, and construct validity (convergent and discriminant validity). A total of 1296 JIA patients (7.2% systemic, 59.5% oligoarticular, 21.4% RF negative polyarthritis, 11.9% other categories) and 100 healthy children, were enrolled in 18 centres. The JAMAR components discriminated well healthy subjects from JIA patients except for the Paediatric Rheumatology Quality of Life (PRQL) Psychosocial Health (PsH) subscales. All JAMAR components revealed good psychometric performances. In conclusion, the Italian version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and clinical research.

Published
2018

42. Toward the Knowledge of the Epidemiological Impact of Acute Rheumatic Fever in Italy.

Author

Alberio AMQ, Pieroni F, Di Gangi A, Cappelli S, Bini G, Abu-Rumeileh S, Orsini A, Bonuccelli A, Peroni D, Assanta N, Gaggiano C, Simonini G, and Consolini R

Abstract

Background: To estimate the incidence of Acute Rheumatic Fever (ARF) in Tuscany, a region of Central Italy, evaluating the epidemiological impact of the new diagnostic guidelines, and to analyse our outcomes in the context of the Italian overview. Methods: A multicenter and retrospective study was conducted involving children <18 years old living in Tuscany and diagnosed in the period between 2010 and 2019. Two groups were established based on the new diagnostic criteria: High-Risk (HR) group patients, n = 29 and Low-Risk group patients, n = 96. Results: ARF annual incidence ranged from 0.91 to 7.33 out of 100,000 children in the analyzed period, with peak of incidence registered in 2019. The application of HR criteria led to an increase of ARF diagnosis of 30%. Among the overall cohort joint involvement was the most represented criteria (68%), followed by carditis (58%). High prevalence of subclinical carditis was observed (59%). Conclusions: Tuscany should be considered an HR geographic area and HR criteria should be used for ARF diagnosis in this region., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Alberio, Pieroni, Di Gangi, Cappelli, Bini, Abu-Rumeileh, Orsini, Bonuccelli, Peroni, Assanta, Gaggiano, Simonini and Consolini.)

Published
2021
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43. Autoimmunity in Primary Immunodeficiency Disorders: An Updated Review on Pathogenic and Clinical Implications.

Author

Costagliola G, Cappelli S, and Consolini R

Abstract

During the last years, studies investigating the intriguing association between immunodeficiency and autoimmunity led to the discovery of new monogenic disorders, the improvement in the knowledge of the pathogenesis of autoimmunity, and the introduction of targeted treatments. Autoimmunity is observed with particular frequency in patients with primary antibody deficiencies, such as common variable immunodeficiency (CVID) and selective IgA deficiency, but combined immunodeficiency disorders (CIDs) and disorders of innate immunity have also been associated with autoimmunity. Among CIDs, the highest incidence of autoimmunity is described in patients with autoimmune polyendocrine syndrome 1, LRBA, and CTLA-4 deficiency, and in patients with STAT-related disorders. The pathogenesis of autoimmunity in patients with immunodeficiency is far to be fully elucidated. However, altered germ center reactions, impaired central and peripheral lymphocyte negative selection, uncontrolled lymphocyte proliferation, ineffective cytoskeletal function, innate immune defects, and defective clearance of the infectious agents play an important role. In this paper, we review the main immunodeficiencies associated with autoimmunity, focusing on the pathogenic mechanisms responsible for autoimmunity in each condition and on the therapeutic strategies. Moreover, we provide a diagnostic algorithm for the diagnosis of PIDs in patients with autoimmunity.

Published
2021
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45. Lymphadenopathy at the crossroad between immunodeficiency and autoinflammation: An intriguing challenge.

Author

Costagliola G and Consolini R

Subjects
Common Variable Immunodeficiency diagnosis, Common Variable Immunodeficiency genetics, Common Variable Immunodeficiency pathology, Epstein-Barr Virus Infections immunology, Genetic Predisposition to Disease genetics, Herpesvirus 4, Human immunology, Humans, Immunologic Deficiency Syndromes diagnosis, Immunologic Deficiency Syndromes genetics, Immunologic Deficiency Syndromes pathology, Infant, Infant, Newborn, Lymphadenopathy diagnosis, Lymphadenopathy pathology, Lymphoproliferative Disorders diagnosis, Lymphoproliferative Disorders genetics, Lymphoproliferative Disorders pathology, Common Variable Immunodeficiency immunology, Immunologic Deficiency Syndromes immunology, Lymphadenopathy immunology, Lymphoproliferative Disorders immunology
Abstract

Lymphadenopathies can be part of the clinical spectrum of several primary immunodeficiencies, including diseases with immune dysregulation and autoinflammatory disorders, as the clinical expression of benign polyclonal lymphoproliferation, granulomatous disease or lymphoid malignancy. Lymphadenopathy poses a significant diagnostic dilemma when it represents the first sign of a disorder of the immune system, leading to a consequently delayed diagnosis. Additionally, the finding of lymphadenopathy in a patient with diagnosed immunodeficiency raises the question of the differential diagnosis between benign lymphoproliferation and malignancies. Lymphadenopathies are evidenced in 15-20% of the patients with common variable immunodeficiency, while in other antibody deficiencies the prevalence is lower. They are also evidenced in different combined immunodeficiency disorders, including Omenn syndrome, which presents in the first months of life. Interestingly, in the activated phosphoinositide 3-kinase delta syndrome, autoimmune lymphoproliferative syndrome, Epstein-Barr virus (EBV)-related lymphoproliferative disorders and regulatory T cell disorders, lymphadenopathy is one of the leading signs of the entire clinical picture. Among autoinflammatory diseases, the highest prevalence of lymphadenopathies is observed in patients with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) and hyper-immunoglobulin (Ig)D syndrome. The mechanisms underlying lymphoproliferation in the different disorders of the immune system are multiple and not completely elucidated. The advances in genetic techniques provide the opportunity of identifying new monogenic disorders, allowing genotype-phenotype correlations to be made and to provide adequate follow-up and treatment in the single diseases. In this work, we provide an overview of the most relevant immune disorders associated with lymphadenopathy, focusing on their diagnostic and prognostic implications., (© 2021 The Authors. Clinical & Experimental Immunology published by John Wiley & Sons Ltd on behalf of British Society for Immunology.)

Published
2021
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46. Osteoid osteoma mimicking monoarticular juvenile idiopathic arthritis in a girl

Author

Massei, F., Laccetta, G., Barrani, M., Fabbri, L., Zampa, V., Paolicchi, A., Cioni, R., Ciancia, E. M., Scaglione, M., and Consolini, R.

Subjects
Osteoid osteoma, Femur, Juvenile idiopathic arthritis, Needle biopsy, Radiofrequency ablation, Pediatrics, Perinatology and Child Health, femur, juvenile idiopathic arthritis, needle biopsy, osteoid osteoma, radiofrequency ablation, Perinatology and Child Health, Pediatrics
Published
2016

47. Age-related differences in the immune response could contribute to determine the spectrum of severity of COVID-19.

Author

Costagliola G, Spada E, and Consolini R

Subjects
Adaptive Immunity, Adolescent, Adult, Age of Onset, Aged, Angiotensin-Converting Enzyme 2 biosynthesis, COVID-19 etiology, Child, Child, Preschool, Comorbidity, Cytokine Release Syndrome etiology, Cytokine Release Syndrome immunology, Humans, Immunity, Innate, Infant, Inflammation immunology, Lymphocyte Subsets immunology, Male, Middle Aged, Receptors, Virus biosynthesis, Severity of Illness Index, Systemic Inflammatory Response Syndrome etiology, Systemic Inflammatory Response Syndrome immunology, Young Adult, Age Factors, Aging immunology, COVID-19 immunology, SARS-CoV-2
Abstract

Coronavirus disease 2019 (COVID-19), can present with a wide spectrum of severity. Elderly patients with cardiac, pulmonary and metabolic comorbidities are more likely to develop the severe manifestations of COVID-19, which are observed in less than 5% of the pediatric patients. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is able to induce an immune impairment and dysregulation, finally resulting in the massive release of inflammatory mediators, strongly contributing to the pulmonary and systemic manifestations in COVID-19. In children, the immune dysregulation following SARS-CoV-2 can also be responsible of a severe disease phenotype defined as multisystem inflammatory syndrome in children. As the immune system undergoes a complex process of maturation from birth to adult age, differences in the immune and inflammatory response could have a significant impact in determining the spectrum of severity of COVID-19. Indeed, children show a higher ability to respond to viral infections and a reduced baseline pro-inflammatory state compared with elderly patients. Age and comorbidities contribute to disease severity through immune-mediated mechanisms, since they are associated with a chronic increase of pro-inflammatory mediators, and cause an enhanced susceptibility to develop an immune dysregulation following SARS-CoV-2 infection. Also the expression of ACE2, the receptor of SARS-CoV-2, varies with age, and is linked to the immune and inflammatory response through a complex, and not completely elucidated, network. This paper reviews the peculiar immunopathogenic aspects of COVID-19, with a focus on the differences between adult and pediatric patients., (© 2021 The Authors. Immunity, Inflammation and Disease published by John Wiley & Sons Ltd.)

Published
2021
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48. Severe COVID-19 in pediatric age: an update on the role of the anti-rheumatic agents.

Author

Costagliola G, Spada E, and Consolini R

Subjects
Child, Humans, Treatment Outcome, Antirheumatic Agents pharmacology, Biological Factors pharmacology, COVID-19 complications, COVID-19 immunology, COVID-19 prevention & control, Systemic Inflammatory Response Syndrome immunology, Systemic Inflammatory Response Syndrome prevention & control, COVID-19 Drug Treatment
Abstract

Background: SARS-CoV-2 can induce an immune impairment and dysregulation, finally resulting in the massive release of inflammatory mediators (cytokine storm), strongly contributing to the pulmonary and systemic manifestations in severe coronavirus disease 2019 (COVID-19). As a consequence, different drugs active on the immune system have been proposed for the treatment of the disease in adults., Role of the Anti-Rheumatic Agents in Children: Children are more likely to develop a mild disease course, as the severe form of COVID-19 is identified in less than 5% of the pediatric patients. Moreover, in children a peculiar disease phenotype, defined as multisystem inflammatory syndrome in children (MIS-C) is observed, representing the most severe expression of the inflammatory dysregulation caused by SARS-CoV-2. The limited experience with the severe pediatric COVID-19 and MIS-C does not allow conclusions about the role of the immune pharmacological approach, and therefore the treatment of these conditions represents a considerable clinical challenge. The use of chloroquine, hydroxychloroquine, and colchicine in the early disease stages is not sufficiently supported by evidence, and there is an increasing interest in the role of biologic agents, including anti-IL-1 and anti-IL-6 agents, in the prevention and treatment of the severe manifestations of COVID-19., Conclusion: The therapeutic approach to pediatric COVID-19 is multidisciplinary, and anti-rheumatic agents have a prominent role in severe disease. This paper reviews the rationale for the use of anti-rheumatic agents in pediatric COVID-19 and MIS-C and the clinical experience with the single drugs. Finally, the areas of potential improvement in the use of anti-rheumatic agents, including the optimization of the drug choice and the timing of administration, are discussed.

Published
2021
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49. Corrigendum to: 'Vaccination in immunocompromised host: Recommendations of Italian Primary Immunodeficiency Network Centers (IPINET)' [Vaccine 36 (2018) Pages 3541–3542]

Author

Martire, Baldassarre, Azzari, Chiara, Badolato, Raffaele, Canessa, Clementina, Cirillo, Emilia, Gallo, Vera, Graziani, Simona, Lorenzini, Tiziana, Milito, Cinzia, Panza, Raffaella, Moschese, Viviana, Pignata, Claudio, Martire, B, Lassandro, G, Panza, R, Vacca, A, Marasco, C, Cardinale, F, Sisto, C, Pession, A, Ricci, G, Rondelli, R, Specchia, F, Plebani, A, Badolato, R, Lougaris, V, Soresina, A, Miniero, R, Anastasio, E, Paganelli, R, Dilizia, Sperli, D, Carpino, L, Cirillo, E, Gallo, V, Giardino, G, Spadaro, G, Pecoraro, A ), Putti, Mc, Agostini, C, Cinetto, F, Trizzino, A, Bertolini, P), Arlotta, A, Marseglia, Gl, Bossi, G, Consolini, R, and Et, Al.

Subjects
ANTIBODY-RESPONSES, Secondary immunodeficiency KeyWords Plus:CHRONIC GRANULOMATOUS-DISEASE, ADVISORY-COMMITTEE, ROTAVIRUS VACCINATION, IMMUNIZATION PRACTICES, Medicine, HUMORAL IMMUNITY, Author Keywords:Vaccination, Primary immunodeficiency, Syndromic immunodeficiency, ACUTE LYMPHOBLASTIC-LEUKEMIA, CALMETTE-GUERIN, POLYSACCHARIDE VACCINATION, MENDELIAN SUSCEPTIBILITY, General Veterinary, General Immunology and Microbiology, business.industry, Public Health, Environmental and Occupational Health, medicine.disease, Virology, Vaccination, Infectious Diseases, Molecular Medicine, business, Host (network)
Published
2018
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