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101 results on '"Moschese V"'

1. Development and preliminary validation of a new screening questionnaire for identifying atopic children

Author

Sacchetti M, Baiardini I, Chini L, Moschese V, Bruscolini A, and Lambiase A

Subjects
allergy, questionnaire, children, screening, validation., Pediatrics, RJ1-570
Abstract

Marta Sacchetti,1,2 Ilaria Baiardini,3 Loredana Chini,4 Viviana Moschese,4 Alice Bruscolini,2 Alessandro Lambiase2 1Cornea and Ocular Surface Unit, IRCCS-Ospedale San Raffaele di Milano, Milan, 2Department of Sense Organs, Sapienza University, Rome, 3Allergy and Respiratory Diseases Clinic, DIMI, University of Genoa, IRCCS AOU San Martino-IST, Genoa, 4Pediatric Allergology and Immunology Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy Background: Allergic diseases represent a frequent and increasing condition affecting children. A screening questionnaire allowing an easy identification of children with symptoms of allergic diseases may improve management and clinical outcome. The aim of this study was to develop and validate an easy-to-use screening questionnaire to detect children requiring further allergological evaluations. Methods: A 10-item questionnaire, evaluating the presence and the history of the most frequent allergic conditions affecting children, including allergic asthma, allergic rhinitis and conjunctivitis, food allergy, and atopic dermatitis, was developed and administered to 214 parents of children from 5 to 10 years of age (163 with allergic disease and 51 healthy, nonallergic children). Validation was performed by Pearson’s correlation between the clinical diagnosis and the responses to the questionnaire. Internal consistency was computed by Cronbach’s alpha correlation coefficient. Sensitivity and specificity of the novel questionnaire were assessed by the receiver operating characteristic (ROC) curve. Results: Validation analysis of the new children atopy (ChAt) questionnaire showed good internal consistency with a Cronbach’s alpha of 0.757. Responses to the items evaluating the presence of individual allergic conditions significantly correlated with the clinical diagnosis (p2 of the ChAt questionnaire total score for detection of allergy (sensitivity =0.92 and specificity =0.902). Conclusion: The novel ChAt questionnaire represents a simple tool able to detect the presence of all major allergic diseases in a pediatric population allowing an early identification of allergic multimorbidity and potentially facilitating clinical management. Keywords: allergy, questionnaire, children, screening, validation

Published
2017

3. Diagnostic relevance of IgE sensitization profiles to eight recombinant Phleum pratense molecules

Author

Cipriani, F., Mastrorilli, C., Tripodi, S., Ricci, G., Perna, S., Panetta, V., Asero, R., Dondi, A., Bianchi, A., Maiello, N., Miraglia del Giudice, M., Frediani, T., Macrì, F., Lucarelli, S., Dello Iacono, I., Patria, M. F., Varin, E., Peroni, D., Chini, L., Moschese, V., Bernardini, R., Pingitore, G., Pelosi, U., Tosca, M., Paravati, F., Sfika, I., Businco, A. Di Rienzo, Povesi Dascola, C., Comberiati, P., Frediani, S., Lambiase, C., Verga, M. C., Faggian, D., Plebani, M., Calvani, M., Caffarelli, C., and Matricardi, P. M.

Published
2018
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4. 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

5. Rituximab Unveils Hypogammaglobulinemia and Immunodeficiency in Children with Autoimmune Cytopenia

Author

Ottaviano, G, Marinoni, M, Graziani, S, Sibson, K, Barzaghi, F, Bertolini, P, Chini, L, Corti, P, Cancrini, C, D'Alba, I, Gabelli, M, Gallo, V, Giancotta, C, Giordano, P, Lassandro, G, Martire, B, Angarano, R, Mastrodicasa, E, Bava, C, Miano, M, Naviglio, S, Verzegnassi, F, Saracco, P, Trizzino, A, Biondi, A, Pignata, C, Moschese, V, Ottaviano G., Marinoni M., Graziani S., Sibson K., Barzaghi F., Bertolini P., Chini L., Corti P., Cancrini C., D'Alba I., Gabelli M., Gallo V., Giancotta C., Giordano P., Lassandro G., Martire B., Angarano R., Mastrodicasa E., Bava C., Miano M., Naviglio S., Verzegnassi F., Saracco P., Trizzino A., Biondi A., Pignata C., Moschese V., Ottaviano, G, Marinoni, M, Graziani, S, Sibson, K, Barzaghi, F, Bertolini, P, Chini, L, Corti, P, Cancrini, C, D'Alba, I, Gabelli, M, Gallo, V, Giancotta, C, Giordano, P, Lassandro, G, Martire, B, Angarano, R, Mastrodicasa, E, Bava, C, Miano, M, Naviglio, S, Verzegnassi, F, Saracco, P, Trizzino, A, Biondi, A, Pignata, C, Moschese, V, Ottaviano G., Marinoni M., Graziani S., Sibson K., Barzaghi F., Bertolini P., Chini L., Corti P., Cancrini C., D'Alba I., Gabelli M., Gallo V., Giancotta C., Giordano P., Lassandro G., Martire B., Angarano R., Mastrodicasa E., Bava C., Miano M., Naviglio S., Verzegnassi F., Saracco P., Trizzino A., Biondi A., Pignata C., and Moschese V.

Abstract

Background: Rituximab (RTX; anti-CD20 mAb) is a treatment option in children with refractory immune thrombocytopenia, autoimmune hemolytic anemia (AHA), and Evans syndrome (ES). Prevalence and clinical course of RTX-induced hypogammaglobulinemia in these patients are poorly known. Objective: To evaluate the prevalence and risk factors for persistent hypogammaglobulinemia (PH) after RTX use. Methods: Clinical and immunologic data from children treated with RTX for immune thrombocytopenia, AHA, and ES were collected from 16 Italian centers and 1 UK center at pre-RTX time point (0), +6 months, and yearly, up to 4 years post-RTX. Patients with previously diagnosed malignancy or primary immune deficiency (PID) were excluded. Results: We analyzed 53 children treated with RTX for immune thrombocytopenia (n = 36), AHA (n = 13), and ES (n = 4). Median follow-up was 30 months (range, 12-48). Thirty-two percent of patients (17 of 53) experienced PH, defined as IgG levels less than 2 SD for age at last follow-up (>12 months after RTX). Significantly delayed B-cell recovery was observed in children experiencing PH (hazard ratio, 0.55; P <.05), and 6 of 17 (35%) patients had unresolved B-cell lymphopenia at last follow-up. PH was associated with IgA and IgM deficiency, younger age at RTX use (51 vs 116 months; P <.01), a diagnosis of AHA/ES, and better response to RTX. Nine patients with PH (9 of 17 [53%]) were eventually diagnosed with a PID. Conclusions: Post-RTX PH is a frequent condition in children with autoimmune cytopenia; a sizable proportion of patients with post-RTX PH were eventually diagnosed with a PID. In-depth investigation for PID is therefore recommended in these patients.

Published
2020

6. The role of bronchodilation testing in children and adolescents with asthma in clinical practice

Author

Tosca, M. A., Schiavetti, I., Ciprandi, G., Anastasio, E., Caffarelli, C., Caricato, F., Del Duca, E., De Vittori, V., Di Cicco, M. E., Kantar, A., Leone, M., Licari, A., Moschese, V., Peroni, D. G., Talarico, V., and Votto, M.

Subjects
Male, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Adolescent, medicine.drug_class, bronchodilation, FEV1/FVC ratio, children, reversibility, Forced Expiratory Volume, Bronchodilator, Internal medicine, Bronchodilation, medicine, Humans, Immunology and Allergy, adolescents, Child, Asthma, asthma control, Bronchial obstruction, Lung function, business.industry, Mean age, respiratory system, medicine.disease, Bronchodilator Agents, Respiratory Function Tests, respiratory tract diseases, Airway Obstruction, Clinical Practice, Pediatrics, Perinatology and Child Health, Female, business
Abstract

The change in forced expiratory volume in 1 s (FEV1) in response to a bronchodilator (ΔFEV1) is a diagnostic tool. Moreover, bronchodilation testing may give clinically relevant outcomes beyond diagnostic purposes. The present study aimed, therefore, to investigate the nationwide role of bronchodilation testing in daily practice. The study included 280 subjects, 202 (72.1%) males and 78 (27.9%) females; the mean age was 11.6 years. Notably, 67 (24%) children had bronchial reversibility (BDR). Age, initial FEV1, FEV1/FVC, and FVC were significantly associated with BDR (OR 1.16, 1.66, 0.71, and 0.67, respectively). Interestingly, 39 (58.2%) children with BDR had no bronchial obstruction. In conclusion, the BDR is usually associated with low values of the lung function parameters, even if within the normal ranges.

Published
2021
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7. The treatment of allergic rhinitis in asthmatic children and adolescents: practical outcomes from the real-world “ControL’Asma” study

Author

Tosca, M.A., primary, Marseglia, G.L., additional, Ciprandi, G., additional, Anastasio, E., additional, Brambilla, I., additional, Caffarelli, C., additional, Chini, L., additional, Ciprandi, R., additional, De Vittori, V., additional, Duse, M., additional, Di Cicco, M.E., additional, Indinnimeo, L., additional, Kantar, A., additional, Leone, M., additional, Licari, A., additional, Marinelli, G., additional, Maio, S., additional, Moschese, V., additional, Olcese, R., additional, Peroni, D.G., additional, Pistorio, A., additional, Salmaso, C., additional, Silvestri, M., additional, and Zicari, A.M., additional

Published
2021
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8. The Interplay between CD27dull and CD27bright B Cells Ensures the Flexibility, Stability, and Resilience of Human B Cell Memory

Author

Grimsholm, O., Piano Mortari, E., Davydov, A. N., Shugay, M., Obraztsova, A. S., Bocci, C., Marasco, E., Marcellini, V., Aranburu, A., Farroni, C., Silvestris, D. A., Cristofoletti, C., Giorda, E., Scarsella, M., Cascioli, S., Barresi, S., Lougaris, V., Plebani, A., Cancrini, C., Finocchi, A., Moschese, V., Valentini, D., Vallone, C., Signore, F., de Vincentiis, G., Zaffina, S., Russo, G., Gallo, A., Locatelli, Franco, Tozzi, A. E., Tartaglia, M., Chudakov, D. M., Carsetti, R., Locatelli F. (ORCID:0000-0002-7976-3654), Grimsholm, O., Piano Mortari, E., Davydov, A. N., Shugay, M., Obraztsova, A. S., Bocci, C., Marasco, E., Marcellini, V., Aranburu, A., Farroni, C., Silvestris, D. A., Cristofoletti, C., Giorda, E., Scarsella, M., Cascioli, S., Barresi, S., Lougaris, V., Plebani, A., Cancrini, C., Finocchi, A., Moschese, V., Valentini, D., Vallone, C., Signore, F., de Vincentiis, G., Zaffina, S., Russo, G., Gallo, A., Locatelli, Franco, Tozzi, A. E., Tartaglia, M., Chudakov, D. M., Carsetti, R., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Grimsholm et al. show that CD27dull and CD27bright represent sequential MBC developmental stages. T cell- and germinal center (GC)-independent CD27dull MBCs are the plastic source of strongly selected and GC-dependent CD27bright MBCs. CD27dull MBCs, able to expand and differentiate in response to change, ensure stability and flexibility of human B cell memory.

Published
2020

9. Consensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity

Author

Cirillo, E., Giardino, G., Ricci, S., Moschese, V., Lougaris, V., Conti, F., Azzari, C., Barzaghi, F., Canessa, C., Martire, B., Badolato, R., Dotta, L., Soresina, A., Cancrini, C., Finocchi, A., Montin, D., Romano, R., Amodio, D., Ferrua, F., Tommasini, A., Baselli, L. A., Dellepiane, R. M., Polizzi, A., Chessa, L., Marzollo, A., Cicalese, M. P., Putti, M. C., Pession, A., Aiuti, A., Locatelli, Franco, Plebani, A., Pignata, C., Locatelli F. (ORCID:0000-0002-7976-3654), Cirillo, E., Giardino, G., Ricci, S., Moschese, V., Lougaris, V., Conti, F., Azzari, C., Barzaghi, F., Canessa, C., Martire, B., Badolato, R., Dotta, L., Soresina, A., Cancrini, C., Finocchi, A., Montin, D., Romano, R., Amodio, D., Ferrua, F., Tommasini, A., Baselli, L. A., Dellepiane, R. M., Polizzi, A., Chessa, L., Marzollo, A., Cicalese, M. P., Putti, M. C., Pession, A., Aiuti, A., Locatelli, Franco, Plebani, A., Pignata, C., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Medical advances have dramatically improved the long-term prognosis of children and adolescents with inborn errors of immunity (IEIs). Transfer of the medical care of individuals with pediatric IEIs to adult facilities is also a complex task because of the large number of distinct disorders, which requires involvement of patients and both pediatric and adult care providers. To date, there is no consensus on the optimal pathway of the transitional care process and no specific data are available in the literature regarding patients with IEIs. We aimed to develop a consensus statement on the transition process to adult health care services for patients with IEIs. Physicians from major Italian Primary Immunodeficiency Network centers formulated and answered questions after examining the currently published literature on the transition from childhood to adulthood. The authors voted on each recommendation. The most frequent IEIs sharing common main clinical problems requiring full attention during the transitional phase were categorized into different groups of clinically related disorders. For each group of clinically related disorders, physicians from major Italian Primary Immunodeficiency Network institutions focused on selected clinical issues representing the clinical hallmark during early adulthood.

Published
2020

10. Consensus statement of the Italian society of pediatric allergy and immunology for the pragmatic management of children and adolescents with allergic or immunological diseases during the COVID-19 pandemic

Author

Cardinale, F, Ciprandi, G, Barberi, S, Bernardini, R, Caffarelli, C, Calvani, M, Cavagni, G, Galli, E, Minasi, D, Del Giudice, M, Moschese, V, Novembre, E, Paravati, F, Peroni, D, Tosca, M, Traina, G, Tripodi, S, Marseglia, G, Amato, D, Anania, C, Anastasio, E, Antignani, R, Arasi, S, Baldassarre, M, Baldo, E, Barbalace, A, Barni, S, Betti, F, Bianchi, A, Bolzacchini, E, Bonini, M, Bottau, P, Bozzetto, S, Brighetti, M, Caimmi, D, Caimmi, S, Calzone, L, Cancrini, C, Caminiti, L, Capata, G, Capra, L, Capristo, C, Carboni, E, Carella, F, Castagnoli, R, Chiappini, E, Chiera, F, Chinellato, I, Chini, L, Cipriani, F, Civitelli, F, Comberiati, P, Contini, D, Corrente, S, Cravidi, C, Crisafulli, G, Cuomo, B, D'Auria, E, D'Elios, S, Decimo, F, Giustina, A, Piane, R, De Filippo, M, De Vittori, V, Diaferio, L, Di Mauro, M, Duse, M, Federici, S, Felice, G, Fenu, G, Ferrante, G, Foti, T, Franceschini, F, Ghiglioni, D, Giardino, G, Giovannini, M, Indirli, G, Indolfi, C, Landi, M, La Torre, F, Leone, L, Licari, A, Liotti, L, Lougaris, V, Maiello, N, Mantecca, P, Manti, S, Mariani, M, Martelli, A, Mastrorilli, C, Mastrorilli, V, Montin, D, Mori, F, Olcese, R, Ottaviano, G, Paglialunga, C, Pajno, G, Parisi, G, Pattini, S, Pecoraro, L, Pelosi, U, Pignata, C, Ricci, G, Ricci, S, Rizzi, S, Rizzo, C, Rosati, S, Rosso, P, Sangerardi, M, Santoro, A, Saretta, F, Sarti, L, Sartorio, M, Sgruletti, M, Soresina, A, Sfika, I, Sgrulletti, M, Tesse, N, Tranchino, V, Travaglini, A, Velia, M, Verduci, E, Vernich, M, Veronelli, E, Volpi, S, Votto, M, Zicari, A, Cardinale, F, Ciprandi, G, Barberi, S, Bernardini, R, Caffarelli, C, Calvani, M, Cavagni, G, Galli, E, Minasi, D, Del Giudice, M, Moschese, V, Novembre, E, Paravati, F, Peroni, D, Tosca, M, Traina, G, Tripodi, S, Marseglia, G, Amato, D, Anania, C, Anastasio, E, Antignani, R, Arasi, S, Baldassarre, M, Baldo, E, Barbalace, A, Barni, S, Betti, F, Bianchi, A, Bolzacchini, E, Bonini, M, Bottau, P, Bozzetto, S, Brighetti, M, Caimmi, D, Caimmi, S, Calzone, L, Cancrini, C, Caminiti, L, Capata, G, Capra, L, Capristo, C, Carboni, E, Carella, F, Castagnoli, R, Chiappini, E, Chiera, F, Chinellato, I, Chini, L, Cipriani, F, Civitelli, F, Comberiati, P, Contini, D, Corrente, S, Cravidi, C, Crisafulli, G, Cuomo, B, D'Auria, E, D'Elios, S, Decimo, F, Giustina, A, Piane, R, De Filippo, M, De Vittori, V, Diaferio, L, Di Mauro, M, Duse, M, Federici, S, Felice, G, Fenu, G, Ferrante, G, Foti, T, Franceschini, F, Ghiglioni, D, Giardino, G, Giovannini, M, Indirli, G, Indolfi, C, Landi, M, La Torre, F, Leone, L, Licari, A, Liotti, L, Lougaris, V, Maiello, N, Mantecca, P, Manti, S, Mariani, M, Martelli, A, Mastrorilli, C, Mastrorilli, V, Montin, D, Mori, F, Olcese, R, Ottaviano, G, Paglialunga, C, Pajno, G, Parisi, G, Pattini, S, Pecoraro, L, Pelosi, U, Pignata, C, Ricci, G, Ricci, S, Rizzi, S, Rizzo, C, Rosati, S, Rosso, P, Sangerardi, M, Santoro, A, Saretta, F, Sarti, L, Sartorio, M, Sgruletti, M, Soresina, A, Sfika, I, Sgrulletti, M, Tesse, N, Tranchino, V, Travaglini, A, Velia, M, Verduci, E, Vernich, M, Veronelli, E, Volpi, S, Votto, M, and Zicari, A

Abstract

The COVID-19 pandemic has surprised the entire population. The world has had to face an unprecedented pandemic. Only, Spanish flu had similar disastrous consequences. As a result, drastic measures (lockdown) have been adopted worldwide. Healthcare service has been overwhelmed by the extraordinary influx of patients, often requiring high intensity of care. Mortality has been associated with severe comorbidities, including chronic diseases. Patients with frailty were, therefore, the victim of the SARS-COV-2 infection. Allergy and asthma are the most prevalent chronic disorders in children and adolescents, so they need careful attention and, if necessary, an adaptation of their regular treatment plans. Fortunately, at present, young people are less suffering from COVID-19, both as incidence and severity. However, any age, including infancy, could be affected by the pandemic. Based on this background, the Italian Society of Pediatric Allergy and Immunology has felt it necessary to provide a Consensus Statement. This expert panel consensus document offers a rationale to help guide decision-making in the management of children and adolescents with allergic or immunologic diseases.

Published
2020

11. Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies. Front Immunol. 2019 Apr 11;10:316. doi: 10.3389/fimmu.2019.00316. eCollection 2019. Erratum in: Front Immunol. 2019 May 31;10:1184

Author

Cifaldi, C, Brigida, I, Barzaghi, F, Zoccolillo, M, Ferradini, V, Petricone, D, Cicalese, Mp, Lazarevic, D, Cittaro, D, Omrani, M, Attardi, E, Conti, F, Scarselli, A, Chiriaco, M, Cesare, Sd, Licciardi, F, Davide, M, Ferrua, F, Canessa, C, Pignata, C, Giliani, S, Ferrari, S, Fousteri, G, Barera, G, Merli, P, Palma, P, Cesaro, S, Gattorno, M, Trizzino, A, Moschese, V, Chini, L, Villa, A, Azzari, C, Finocchi, A, Locatelli, F, Rossi, P, Sangiuolo, F, Aiuti, A, Cancrini, C, and Di Matteo, G

Subjects
Settore MED/38 - Pediatria Generale e Specialistica, gene panels, Next Generation Sequencing, Haloplex, Ion Torrent, primary immunodeficiencies
Published
2019

12. Corrigendum : Targeted NGS platforms for genetic screening and gene discovery in primary immunodeficiencies (Frontiers in Immunology (2019) 10 (316) DOI: 10.3389/fimmu.2019.00316)

Author

Cifaldi, C., Brigida, I., Barzaghi, F., Zoccolillo, M., Ferradini, V., Petricone, D., Cicalese, M. P., Lazarevic, D., Cittaro, D., Omrani, M., Attardi, E., Conti, F., Scarselli, A., Chiriaco, M., Cesare, S. D., Licciardi, F., Davide, M., Ferrua, F., Canessa, C., Pignata, C., Giliani, S., Ferrari, S., Fousteri, G., Barera, G., Merli, P., Palma, P., Cesaro, S., Gattorno, M., Trizzino, A., Moschese, V., Chini, L., Villa, A., Azzari, C., Finocchi, A., Locatelli, Franco, Rossi, P., Sangiuolo, F., Aiuti, A., Cancrini, C., and Di Matteo, G.

Subjects
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, gene panels, Next Generation Sequencing, Haloplex, Ion Torrent, Settore MED/38, primary immunodeficiencies
Published
2019

13. The practical clinical relevance of rhinitis classification in children with asthma: outcomes of the 'ControL'Asma' study

Author

Tosca, Ma, Duse, M, Marseglia, G, Ciprandi, G, Anastasio, E, Brambilla, I, Caffarelli, C, Chini, L, Ciprandi, R, Del Barba, P, De Vittori, V, Di Cicco, Me, Indinnimeo, L, Kantar, A, Leone, M, Licari, A, Moschese, V, Olcese, R, Peroni, D, Pistorio, A, Silvestri, M, and Zicari, Am

Subjects
Male, Phenotype, Adolescent, Humans, Asthma, Child, Comorbidity, Female, Rhinitis, Severity of Illness Index, Settore MED/38
Published
2019

14. X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world

Author

El-Sayed, ZA, Abramova, I, Carlos Aldave, J, Al-Herz, W, Bezrodnik, L, Boukari, R, Bousfiha, AA, Cancrini, C, Condino-Neto, A, Dbaibo, G, Derfalvi, B, Dogu, F, Edgar, JDM, Eley, B, El-Owaidy, RH, Elva Espinosa-Padilla, S, Galal, N, Haerynck, F, Hanna-Wakim, R, Hossny, E, Ikinciogullari, A, Kamal, E, Kanegane, H, Kechout, N, Lau, YL, Morio, T, Moschese, V, Neves, JF, Ouederni, M, Paganelli, R, Paris, K, Pignata, C, Plebani, A, Qamar, FN, Qureshi, S, Radhakrishnan, N, Rezaei, N, Rosario, N, Routes, J, Sanchez, B, Sediva, A, Seppanen, MRJ, Serrano, EG, Shcherbina, A, Singh, S, Siniah, S, Spadaro, G, Tang, M, Maria Vinet, A, Volokha, A, Sullivan, KE, El-Sayed, ZA, Abramova, I, Carlos Aldave, J, Al-Herz, W, Bezrodnik, L, Boukari, R, Bousfiha, AA, Cancrini, C, Condino-Neto, A, Dbaibo, G, Derfalvi, B, Dogu, F, Edgar, JDM, Eley, B, El-Owaidy, RH, Elva Espinosa-Padilla, S, Galal, N, Haerynck, F, Hanna-Wakim, R, Hossny, E, Ikinciogullari, A, Kamal, E, Kanegane, H, Kechout, N, Lau, YL, Morio, T, Moschese, V, Neves, JF, Ouederni, M, Paganelli, R, Paris, K, Pignata, C, Plebani, A, Qamar, FN, Qureshi, S, Radhakrishnan, N, Rezaei, N, Rosario, N, Routes, J, Sanchez, B, Sediva, A, Seppanen, MRJ, Serrano, EG, Shcherbina, A, Singh, S, Siniah, S, Spadaro, G, Tang, M, Maria Vinet, A, Volokha, A, and Sullivan, KE

Abstract

BACKGROUND: X-linked agammaglobulinemia is an inherited immunodeficiency recognized since 1952. In spite of seven decades of experience, there is still a limited understanding of regional differences in presentation and complications. This study was designed by the Primary Immunodeficiencies Committee of the World Allergy Organization to better understand regional needs, challenges and unique patient features. METHODS: A survey instrument was designed by the Primary Immunodeficiencies Committee of the World Allergy Organization to collect both structured and semi-structured data on X-linked agammaglobulinemia. The survey was sent to 54 centers around the world chosen on the basis of World Allergy Organization participation and/or registration in the European Society for Immunodeficiencies. There were 40 centers that responded, comprising 32 countries. RESULTS: This study reports on 783 patients from 40 centers around the world. Problems with diagnosis are highlighted by the reported delays in diagnosis>24 months in 34% of patients and the lack of genetic studies in 39% of centers Two infections exhibited regional variation. Vaccine-associated paralytic poliomyelitis was seen only in countries with live polio vaccination and two centers reported mycobacteria. High rates of morbidity were reported. Acute and chronic lung diseases accounted for 41% of the deaths. Unusual complications such as inflammatory bowel disease and large granular lymphocyte disease, among others were specifically enumerated, and while individually uncommon, they were collectively seen in 20.3% of patients. These data suggest that a broad range of both inflammatory, infectious, and autoimmune conditions can occur in patients. The breadth of complications and lack of data on management subsequently appeared as a significant challenge reported by centers. Survival above 20 years of age was lowest in Africa (22%) and reached above 70% in Australia, Europe and the Americas. Centers were asked to rep

Published
2019

15. Targeted NGS platforms for genetic screening and gene discovery in primary immunodeficiencies

Author

Cifaldi, C., Brigida, I., Barzaghi, F., Zoccolillo, M., Ferradini, V., Petricone, D., Cicalese, M. P., Lazarevic, D., Cittaro, D., Omrani, M., Attardi, E., Conti, F., Scarselli, A., Chiriaco, M., Di Cesare, S., Licciardi, F., Davide, M., Ferrua, F., Canessa, C., Pignata, C., Giliani, S., Ferrari, S., Fousteri, G., Barera, G., Merli, P., Palma, P., Cesaro, S., Gattorno, M., Trizzino, A., Moschese, V., Chini, L., Villa, A., Azzari, C., Finocchi, A., Locatelli, Franco, Rossi, P., Sangiuolo, F., Aiuti, A., Cancrini, C., Di Matteo, G., Locatelli F. (ORCID:0000-0002-7976-3654), Cifaldi, C., Brigida, I., Barzaghi, F., Zoccolillo, M., Ferradini, V., Petricone, D., Cicalese, M. P., Lazarevic, D., Cittaro, D., Omrani, M., Attardi, E., Conti, F., Scarselli, A., Chiriaco, M., Di Cesare, S., Licciardi, F., Davide, M., Ferrua, F., Canessa, C., Pignata, C., Giliani, S., Ferrari, S., Fousteri, G., Barera, G., Merli, P., Palma, P., Cesaro, S., Gattorno, M., Trizzino, A., Moschese, V., Chini, L., Villa, A., Azzari, C., Finocchi, A., Locatelli, Franco, Rossi, P., Sangiuolo, F., Aiuti, A., Cancrini, C., Di Matteo, G., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic immune disorders. While some PIDs can manifest with more than one phenotype, signs, and symptoms of various PIDs overlap considerably. Recently, novel defects in immune-related genes and additional variants in previously reported genes responsible for PIDs have been successfully identified by Next Generation Sequencing (NGS), allowing the recognition of a broad spectrum of disorders. Objective: To evaluate the strength and weakness of targeted NGS sequencing using custom-made Ion Torrent and Haloplex (Agilent) panels for diagnostics and research purposes. Methods: Five different panels including known and candidate genes were used to screen 105 patients with distinct PID features divided in three main PID categories: T cell defects, Humoral defects and Other PIDs. The Ion Torrent sequencing platform was used in 73 patients. Among these, 18 selected patients without a molecular diagnosis and 32 additional patients were analyzed by Haloplex enrichment technology. Results: The complementary use of the two custom-made targeted sequencing approaches allowed the identification of causative variants in 28.6% (n = 30) of patients. Twenty-two out of 73 (34.6%) patients were diagnosed by Ion Torrent. In this group 20 were included in the SCID/CID category. Eight out of 50 (16%) patients were diagnosed by Haloplex workflow. Ion Torrent method was highly successful for those cases with well-defined phenotypes for immunological and clinical presentation. The Haloplex approach was able to diagnose 4 SCID/CID patients and 4 additional patients with complex and extended phenotypes, embracing all three PID categories in which this approach was more efficient. Both technologies showed good gene coverage. Conclusions: NGS technology represents a powerful approach in the complex field of rare disorders but its different application should be weighted. A relatively small NGS target panel can be successful

Published
2019

16. Pediatric health care professionals' vaccine knowledge, awareness and attitude: a survey within the Italian Society of Pediatric Allergy and Immunology.

Author

Del Duca, Elisabetta, Chini, Loredana, Graziani, Simona, Sgrulletti, Mayla, Moschese, Viviana, with the Italian Pediatric Immunology and Allergology Society (SIAIP) Vaccine Committee, Moschese, V., Chini, L., Sgrulletti, M., Dellepiane, R. M., Martire, B., Sangerardi, M., Montin, D., Ottaviano, G., Rizzo, C., Duse, M., and Marseglia, G.

Subjects
VACCINATION, INFLUENZA vaccines, PROFESSIONS, IMMUNIZATION, CONFIDENCE, ATTITUDE (Psychology), MEDICAL personnel, PEDIATRICS, PNEUMOCOCCAL vaccines, QUESTIONNAIRES, PEDIATRIC nursing, DESCRIPTIVE statistics, ROTAVIRUS vaccines, HERPES zoster vaccines, NURSE practitioners
Abstract

Background: Physicians play a key role in driving vaccine acceptance and their recommendations are crucial to address vaccine hesitancy. The aim of the study was to assess knowledge, awareness and attitude of Italian Pediatric Health Care Professionals (pHCPs) on vaccinations. Methods: An anonymous on-line questionnaire was developed within the Vaccine Committee of Italian Society of Pediatric Allergy and Immunology (SIAIP) and spontaneously completed by 231 Pediatricians and Pediatric Nurses (PN). Results: An accurate vaccine education was reported by 70% of pediatricians and 13% of PN but 11% of pediatricians versus 26% of PN consult social media instead of scientific sources for their vaccine update. The investigation on the pHCPs attitudes to vaccination in a personal and family setting highlights poor adherence to vaccinations. Only 63% of pediatricians versus 16% of PN (p < 0.0001) annually received the Flu vaccine. In their family setting 93% of pediatricians versus 51% of PN recommended all vaccinations (p < 0.0001). Anti-flu, anti-rotavirus, anti-zoster and anti-pneumococcal vaccines were not regularly recommended by all pHCPs due to doubts of uselessness (55% of pediatricians versus 40% of PN) and preference for "natural immunity" (44% of pediatricians versus 40% of PN). Conclusions: Our results indicate that pHCPs' attitude and confidence in regards to vaccines remain suboptimal. Current COVID-19 pandemic and the rapid development of vaccines could increase vaccine hesitancy. Due to the documented pHCPs' influence in the parental decision, educational interventions are needed to improve their level of knowledge and counselling skills in order to address parental vaccine hesitancy and to maintain continuity of immunization services. [ABSTRACT FROM AUTHOR]

Published
2021
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20. Prevalence and Clinical Relevance of IgE Sensitization to Profilin in Childhood: A Multicenter Study

Author

Dondi, A, Tripodi, S, Panetta, V, Asero, R, Businco, Ad, Bianchi, A, Carlucci, A, Ricci, G, Bellini, F, Maiello, N, del Giudice, Mm, Frediani, T, Sodano, S, Dello Iacono, I, Macrì, F, Massaccesi, V, Caffarelli, C, Rinaldi, L, Patria, Mf, Varin, E, Peroni, Diego, Chinellato, I, Chini, L, Moschese, V, Lucarelli, S, Bernardini, R, Pingitore, G, Pelosi, U, Tosca, M, Paravati, F, La Grutta, S, Meglio, P, Calvani, M, Plebani, M, Matricardi, Pm, Asero, Riccardo, Tripodi, Salvatore, Dondi, Arianna, Di Rienzo Businco, Andrea, Sfika, Ifigenia, Bianchi, Annamaria, Candelotti, Paolo, Caffarelli, Carlo, Povesi Dascola, Carlotta, Ricci, Giampaolo, Calamelli, Elisabetta, Maiello, Nunzia, MIRAGLIA DEL GIUDICE, Michele, Frediani, Tullio, Frediani, Simone, Macri, Francesco, Moretti, Matteo, Iacono, Iride Dello, Patria, Maria Francesca, Varin, Elena, Peroni, Diego, Comberiati, Pasquale, Chini, Loredana, Moschese, Viviana, Lucarelli, Sandra, Bernardini, Roberto, Pingitore, Giuseppe, Pelosi, Umberto, Tosca, Mariangela, Cirisano, Anastasia, Faggian, Diego, Plebani, Mario, Verga, Carmen, Matricardi, Paolo Maria, and Del Giudice, Michele Miraglia

Subjects
Male, Allergy, Profilin, Prevalence, Immunoglobulin E, Allergic rhinitis, Children, Component-resolved diagnosis, IgE, Oral allergy syndrome, Panallergens, Pollen, Allergens, Antigens, Plant, Carrier Proteins, Child, Cross Reactions, Cucumis sativus, Female, Fruit, Humans, Hypersensitivity, Italy, Poaceae, Profilins, Rhinitis, Allergic, Seasonal, Risk Factors, Skin Tests, Immunology and Allergy, Immunology, Medicine (all), Epidemiology, Outpatient clinic, Sensitization, Rhinitis, Skin Test, biology, Allergen, food and beverages, General Medicine, medicine.anatomical_structure, Cross Reaction, Human, medicine.medical_specialty, Allergic rhinitis, Children, Component-resolved diagnosis, IgE , Oral allergy syndrome, Panallergens, Pollen, Profilin, Socio-culturale, macromolecular substances, Component-resolved diagnosi, Allergic, Allergic rhiniti, medicine, Antigens, Settore MED/38 - Pediatria Generale e Specialistica, Seasonal, business.industry, Risk Factor, Plant, medicine.disease, Cucumis sativu, biology.protein, Panallergen, Carrier Protein, business
Abstract

Background: Little is known about the prevalence and clinical relevance of hypersensitivity to the plant panallergen profilin in children. Objectives: The present study aimed to investigate prevalence, risk factors and clinical relevance of profilin sensitization in a large cohort of Italian children of different ages living in different geographic areas. Methods: Children with pollen allergy enrolled by 16 pediatric outpatient clinics sited in three main geographic areas of Italy were studied. SPT were carried out with commercial pollen extracts and a commercial purified date palm pollen profilin. IgE specific for allergenic pollen molecules, Phl p 12 (grass profilin) and Pru p 3 (peach lipid transfer protein) were tested by ImmunoCAP FEIA. Results: IgE to Phl p 12 (≥0.35 kU/l) was observed in 296 of the 1,271 participants (23%), including 17 of the 108 (16%) preschool children. Profilin SPT was positive (≥3 mm) in 320/1,271 (25%) participants. The two diagnostic methods were concordant in 1,151 (91%, p < 0.0001) cases. Phl p 12 IgE prevalence declined from northern to southern Italy and was directly associated with IgE to Phl p 1 and/or Phl p 5 and Ole e 1. Among children with IgE to Phl p 12, OAS was provoked by kiwi, melon, watermelon, banana, apricot and cucumber. Conclusions: Profilin sensitization is very frequent among pollen-allergic children, occurs at a very young age and contributes to the development of childhood OAS with a typical pattern of offending foods. Pediatricians should always consider IgE sensitization to profilin while examining pollen-allergic children, even if they are at preschool age.

Published
2015
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23. Abstracts from the Food Allergy and Anaphylaxis Meeting 2016

Author

Pouessel, G, Claverie, C, Labreuche, J, Renaudin, J-M, Dorkenoo, A, Eb, M, Moneret-Vautrin, A, Deschildre, A, Leteurtre, S, Grabenhenrich, L, Worm, M, Dölle, S, Scherer, K, Hutteger, I, Christensen, M, Bindslev-Jensen, C, Mortz, C, Eller, E, Kjaer, HF, Carneiro-Leão, L, Badas, J, Coimbra, A, Levy, DP, Ben-Shoshan, M, Rimon, A, Benor, S, Arends, NJT, Edelbroek, N, de Groot, H, Emons, JAM, Brand, HKA, Verhoeven, D, van Veen, LN, de Jong, NW, Noh, G, Jang, EH, Pascal, M, Dominguez, O, Piquer, M, Alvaro, M, Jimenez-Feijoo, R, Lozano, J, Machinena, A, del Mar Folqué, M, Giner, MT, Plaza, AM, Turner, P, Patel, N, Vazquez-Ortiz, M, Lindsley, S, Walker, L, Rosenberg, S, Mari, A, Alessandri, C, Giangrieco, I, Tuppo, L, Rafaiani, C, Mitterer, G, Ciancamerla, M, Ferrara, R, Bernardi, ML, Zennaro, D, Tamburrini, M, Ciardiello, MA, Harwanegg, C, Fernandez, A, Selb, R, Egenmann, P, Epstein, M, Hoffmann-Sommergruber, K, Koning, F, Lovik, M, Clare Mills, EN, Moreno, J, van Loveren, H, Wal, J-M, Diesner, S, Bergmayr, C, Pfitzner, B, Assmann, VE, Starkl, P, Endesfelder, D, Eiwegger, T, Szepfalusi, Z, Fehrenbach, H, Jensen-Jarolim, E, Hartmann, A, Pali-Schöll, I, Untersmayr, E, Wille, S, Meyer, P, Klingebiel, C, Lidholm, J, Ehrenberg, A, Östling, J, Cleach, I, Mège, J-L, Vitte, J, Aina, R, Dubiela, P, Pfeifer, S, Bublin, M, Radauer, C, Humeniuk, P, Kabasser, S, Asero, R, Bogas, G, Gomez, F, Campo, P, Salas, M, Doña, I, Barrionuevo, E, Guerrero, MA, Mayorga, C, Prieto, A, Barber, D, Torres, MJ, Jamin, A, Wangorsch, A, Ballmer, B, Vieths, S, Scheurer, S, Apostolovic, D, Mihailovic, J, Krstic, M, Starkhammar, M, Velickovic, TC, Hamsten, C, van Hage, M, van Erp, FC, Knol, EF, Kansen, HM, Pontoppidan, B, Meijer, Y, van der Ent, CK, Knulst, AC, Sayers, R, Brown, H, Custovic, A, Simpson, A, Mills, C, Schulz, J, Akkerdaas, J, Totis, M, Capt, A, Herouet-Guicheney, C, van Ree, R, Banerjee, T, Banerjee, A, Claude, M, Bouchaud, G, Lupi, R, Castan, L, Tranquet, O, Denery-Papini, S, Bodinier, M, Brossard, C, De Poi, R, Gritti, E, De Dominicis, E, Popping, B, de Laureto, PP, Palosuo, K, Kukkonen, AK, Pelkonen, A, Mäkelä, M, Lee, NA, Rost, J, Muralidharan, S, Campbell, D, Mehr, S, Nock, C, Baumert, J, Taylor, S, Mastrorilli, C, Tripodi, S, Caffarelli, C, Perna, S, Di Rienzo Businco, A, Sfika, I, Dondi, A, Bianchi, A, Dascola, CP, Ricci, G, Cipriani, F, Maiello, N, del Giudice, MM, Frediani, T, Frediani, S, Macrì, F, Pistoletti, C, Iacono, ID, Patria, MF, Varin, E, Peroni, D, Comberiati, P, Chini, L, Moschese, V, Lucarelli, S, Bernardini, R, Pingitore, G, Pelosi, U, Olcese, R, Moretti, M, Cirisano, A, Faggian, D, Travaglini, A, Plebani, M, Verga, MC, Calvani, M, Giordani, P, Matricardi, PM, Ontiveros, N, Cabrera-Chavez, F, Galand, J, Beaudouin, E, Pineau, F, Sakai, S, Matsunaga, K, Teshima, R, Larré, C, Denery, S, Tschirner, S, Trendelenburg, V, Schulz, G, Niggemann, B, Beyer, K, Bouferkas, Y, Belabbas, Y, Saidi, D, Kheroua, O, Mecherfi, KEE, Guendouz, M, Haddi, A, Kaddouri, H, Amaral, L, Pereira, A, Rodrigues, S, Datema, M, Jongejan, L, Clausen, M, Knulst, A, Papadopoulos, N, Kowalski, M, de Blay, F, Zwinderman, A, Hoffman-Sommergruber, K, Ballmer-Weber, B, Fernandez-Rivas, M, Deng, S, Yin, J, Eisenmann, C, Nassiri, M, Reinert, R, van der Valk, JPM, van Wijk, RG, Vergouwe, Y, Steyerberg, EW, Reitsma, M, Wichers, HJ, Savelkoul, HFJ, Vlieg-Boerstra, B, Dubois, AEJ, Carolino, F, Rodolfo, A, Cernadas, J, Roa-Medellín, D, Rodriguez-Fernandez, A, Navarro, J, Albendiz, V, Baeza, ML, Intente-Herrero, S, Mikkelsen, A, Mehlig, K, Lissner, L, Verrill, L, Luccioli, S, van Bilsen, J, Kuper, F, Wolterbeek, A, Rankouhi, TR, Verschuren, L, Cnossen, H, Jeurink, P, Garssen, J, Knippels, L, Garthoff, J, Houben, G, Leeman, W, Eleonore Pettersson, M, Schins, AMM, Koppelman, GH, Kollen, BJ, Zubchenko, S, Kuntz, S, Mérida, P, Álvaro, M, Riggioni, C, Castellanos, JH, Jimenez, R, Cap, M, Drumez, E, Lejeune, S, Thumerelle, C, Mordacq, C, Nève, V, Ricò, S, Varini, M, Nocerino, R, Cosenza, L, Amoroso, A, Di Costanzo, M, Di Scala, C, Bedogni, G, Canani, RB, Turner, PJ, Poza-Guedes, P, González-Pérez, R, Sánchez-Machín, I, Matheu-Delgado, V, Wambre, E, Ballegaard, A-S, Madsen, C, Gregersen, J, Bøgh, KL, Aubert, P, Neunlist, M, Magnan, A, Lozano-Ojalvo, D, Pablos-Tanarro, A, Pérez-Rodríguez, L, Molina, E, López-Fandiño, R, Rekima, A, Macchiaverni, P, Turfkruyer, M, Holvoet, S, Dupuis, L, Baiz, N, Annesi-Maesano, I, Mercenier, A, Nutten, S, Verhasselt, V, Mrakovcic-Sutic, I, Banac, S, Sutic, I, Baricev-Novakovic, Z, Pavisic, V, Muñoz-Cano, R, Jiménez-Rodríguez, T, Corbacho, D, Roca-Ferrer, J, Bartra, J, Bulog, A, Micovic, V, Markiewicz, L, Szymkiewicz, A, Szyc, A, Wróblewska, B, Harvey, BM, Harthoorn, LF, Wesley Burks, A, Rentzos, G, Björk, A-LB, Bengtsson, U, Barber, C, Kalicinsky, C, Breynaert, C, Coorevits, L, Jansen, C, Van Hoeyveld, E, Verbeke, K, Kochuyt, A-M, Schrijvers, R, Deleanu, D, Muntean, A, Konstantakopoulou, M, Pasioti, M, Papadopoulou, A, Iliopoulou, A, Mikos, N, Kompoti, E, de Castro, ED, Bartalomé, B, Ue, KL, Griffiths, E, Till, S, Grimshaw, K, Roberts, G, Selby, A, Butiene, I, Larco, JI, Dubakiene, R, Fiandor, A, Fiocchi, A, Sigurdardottir, S, Sprikkelman, A, Schoemaker, A-F, Xepapadaki, P, Keil, T, Cojocariu, Z, Barbado, BS, Iancu, V, Arroabarren, E, Esarte, MG, Arteaga, M, Andrade, MC, Borges, D, Kalil, J, Bianchi, PG, Agondi, RC, Gupta, RK, Sharma, A, Gupta, K, Das, M, Dwivedi, P, Karseladze, R, Jorjoliani, L, Saginadze, L, Tskhakaia, M, Basello, K, Piuri, G, Speciani, AF, Speciani, MC, Camerotto, C, Zinno, F, Pakholchuk, O, Nedelska, S, Pattini, S, Costantino, MT, Peveri, S, Villalta, D, Savi, E, Costanzi, A, Revyakina, VA, Kiseleva, MA, Kuvshinova, ED, Larkova, IA, Shekhetov, AA, Silva, D, Moreira, A, Plácido, J, van der Kleij, H, van Twuijver, E, Sutorius, R, de Kam, P-J, van Odijk, J, Lindqvist, H, Lustig, E, Jácome, AAA, Aguilar, KLB, Domínguez, MG, Hernández, DAM, Caruso, C, Casale, C, Rapaccini, GL, Romano, A, De Vitis, I, Cocco, RR, Aranda, C, Mallozi, MC, Motta, JF, Moraes, L, Pastorino, A, Rosario, N, Goudouris, E, Porto, A, Wandalsen, NF, Sarinho, E, Sano, F, Solé, D, Pitsios, C, Petrodimopoulou, M, Papadopoulou, E, Passioti, M, Kontogianni, M, Adamia, N, Khaleva, E, del Prado, AP, Du Toit, G, Krzych, E, Samolinska-Zawisza, U, Furmanczyk, K, Tomaszewska, A, Raciborski, F, Lipiec, A, Samel-Kowalik, P, Walkiewicz, A, Borowicz, J, Samolinski, B, Nano, AL, Recto, M, Somoza, ML, López, NB, Alzate, DP, Ruano, FJ, Garcimartín, MI, Haroun, E, de la Torre, MV, Rojas, A, Onieva, ML, Canto, G, Rodrigues, A, Forno, A, Cabral, AJ, Gonçalves, R, Vorozhko, I, Sentsova, T, Chernyak, O, Denisova, S, Ilènko, L, Muhortnich, V, Zimmermann, C, Rohrbach, A, Bakhsh, FR, Boudewijn, K, Oomkes-Pilon, A-M, Van Ginkle, D, Šilar, M, Jeverica, A, Vesel, T, Avčin, T, Korošec, P, van der Valk, J, Berends, I, Arends, N, van Maaren, M, Wichers, H, Emons, J, Dubois, A, de Jong, N, Matsyura, O, Besh, L, Huang, C-H, Jan, T-R, Stiefel, G, Tratt, J, Kirk, K, Arasi, S, Caminiti, L, Crisafulli, G, Fiamingo, C, Fresta, J, Pajno, G, Remington, B, Kruizinga, A, Marty Blom, W, Westerhout, J, Bijlsma, S, Blankestijn, M, Otten, H, Klemans, R, Michelsen-Huisman, AD, van Os-Medendorp, H, Kruizinga, AG, Versluis, A, van Duijn, G, de Zeeuw-Brouwer, HM-L, Castenmiller, JJM, Noteborn, HPJM, Houben, GF, Bravin, K, Luyt, D, Javed, B, Couch, P, Munro, C, Padfield, P, Sperrin, M, Byrne, A, Oosthuizen, L, Kelleher, C, Ward, F, Brosnan, N, King, G, Corbet, E, Guzmán, JAH, García, MB, Asensio, O, Navarrete, LV, Larramona, H, Miró, XD, Pyrz, K, Austin, M, Boloh, Y, Galloway, D, Hernandez, P, Hourihane, JOB, Kenna, F, Majkowska-Wojciechowska, B, Regent, L, Themisb, M, Schnadt, S, Semic-Jusufagic, A, Galvin, AD, Kauppila, T, Kuitunen, M, Kitsioulis, NA, Douladiris, N, Kostoudi, S, Manolaraki, I, Mitsias, D, Manousakis, E, Papadopoulos, NG, Knibb, R, Hammond, J, Cooke, R, Yrjänä, J, Hanni, A-M, Vähäsarja, P, Mustonen, O, Dunder, T, Kulmala, P, Lasa, E, D’Amelio, C, Martínez, S, Joral, A, Gastaminza, G, Goikoetxea, MJ, Candy, DCA, Van Ampting, MTJ, Oude Nijhuis, MM, Butt, AM, Peroni, DG, Fox, AT, Knol, J, Michaelis, LJ, Padua, I, Padrao, P, Moreira, P, Barros, R, Sharif, H, Ahmed, M, Gomaa, N, Mens, J, Smit, K, Timmermans, F, Poredoš, T, Jeverica, AK, Sedmak, M, Benedik, E, Accetto, M, Zupančič, M, Yonamine, G, Soldateli, G, Aquilante, B, Pastorino, AC, de Moraes Beck, CL, Gushken, AK, de Barros Dorna, M, dos Santos, CN, Castro, APM, Al-Qahtani, A, Arnaout, R, Khaliq, AR, Amin, R, Sheikh, F, Alvarez, J, Anda, M, Palacios, M, De Prada, M, Ponce, C, Balbino, B, Sibilano, R, Marichal, T, Gaudenzio, N, Karasuyama, H, Bruhns, P, Tsai, M, Reber, LL, Galli, SJ, Ferreira, AR, Cernadas, JR, del Campo García, A, Fernández, SP, Carrera, NS, Sánchez-Cruz, FB, Lorenzo, JRF, Claus, S, Pföhler, C, Ruëff, F, Treudler, R, Jaume, ME, Madroñero, A, Perez, MTG, Julia, JC, Plovdiv, CH, Gethings, L, Langridge, J, Adel-Patient, K, 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Cooke, R, Yrjänä, J, Hanni, A-M, Vähäsarja, P, Mustonen, O, Dunder, T, Kulmala, P, Lasa, E, D’Amelio, C, Martínez, S, Joral, A, Gastaminza, G, Goikoetxea, MJ, Candy, DCA, Van Ampting, MTJ, Oude Nijhuis, MM, Butt, AM, Peroni, DG, Fox, AT, Knol, J, Michaelis, LJ, Padua, I, Padrao, P, Moreira, P, Barros, R, Sharif, H, Ahmed, M, Gomaa, N, Mens, J, Smit, K, Timmermans, F, Poredoš, T, Jeverica, AK, Sedmak, M, Benedik, E, Accetto, M, Zupančič, M, Yonamine, G, Soldateli, G, Aquilante, B, Pastorino, AC, de Moraes Beck, CL, Gushken, AK, de Barros Dorna, M, dos Santos, CN, Castro, APM, Al-Qahtani, A, Arnaout, R, Khaliq, AR, Amin, R, Sheikh, F, Alvarez, J, Anda, M, Palacios, M, De Prada, M, Ponce, C, Balbino, B, Sibilano, R, Marichal, T, Gaudenzio, N, Karasuyama, H, Bruhns, P, Tsai, M, Reber, LL, Galli, SJ, Ferreira, AR, Cernadas, JR, del Campo García, A, Fernández, SP, Carrera, NS, Sánchez-Cruz, FB, Lorenzo, JRF, Claus, S, Pföhler, C, Ruëff, F, Treudler, R, Jaume, ME, Madroñero, A, Perez, MTG, Julia, JC, Plovdiv, CH, Gethings, L, Langridge, J, Adel-Patient, K, Bernard, H, Barcievic-Jones, I, Sokolova, R, Yankova, R, Ivanovska, M, Murdjeva, M, Popova, T, Dermendzhiev, S, Karjalainen, M, Lehnigk, U, Brown, D, Locklear, JC, Locklear, J, Maris, I, Hourihane, J, Ornelas, C, Caiado, J, Ferreira, MB, Pereira-Barbosa, M, Puente, Y, Daza, JC, Monteseirin, FJ, Ukleja-Sokolowska, N, Gawronska-Ukleja, E, Zbikowska-Gotz, M, Bartuzi, Z, Sokolowski, L, Adams, A, Mahon, B, English, K, Gourdon-Dubois, N, Sellam, L, Pereira, B, Michaud, E, Messaoudi, K, Evrard, B, Fauquert, J-L, Palomares, F, Gomez, G, Rodriguez, MJ, Galindo, L, Molina, A, Paparo, L, Mennini, M, Aitoro, R, Wawrzeńczyk, A, Przybyszewski, M, Sarıcoban, HE, Ugras, M, Yalvac, Z, Flokstra-de Blok, BMJ, van der Velde, JL, Vereda, A, Ippolito, C, Traversa, A, Adriano, D, Bianchi, DM, Gallina, S, Decastelli, L, Makatsori, M, Miles, A, Devetak, SP, Devetak, I, Tabet, SA, Trandbohus, JF, Winther, P, Malling, H-J, Hansen, KS, Garvey, 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Bridts, CH, De Clerck, LS, Ebo, D, Schwarz, S, Ziegert, M, Albroscheit, S, Schwager, C, Kull, S, Behrends, J, Röckendorf, N, Schocker, F, Frey, A, Homann, A, Becker, W-M, Jappe, U, Zaabat, N, Osscini, S, Agabriel, C, Sterling, B, Carsin, A, Liabeuf, V, Maćków, M, Zbróg, A, Bronkowska, M, Courtois, J, Gadisseur, R, Bertholet, C, Lukas, P, Cavalier, E, Delahaut, P, Quinting, B, Gertmo, MB, Hasseus, ET, Barzylovych, V, Oliveira, J, Ensina, LF, Aranda, CS, Dopazo, L, Lopez, R, Perez, R, Santos-Diez, L, Bilbao, A, Garcia, JM, Núñez, IG, Mármol, MÁA, Villarejo, MJB, Martos, JAB, Vergara, MS, García, JMI, Michalska, A, Sergiejko, G, Zacniewski, R, Ghiordanescu, I-M, Deaconu, C, Popescu, M, Bumbacea, RS, Ibranji, A, Nikolla, E, Loloci, G, Juel-Berg, N, Larsen, LF, Poulsen, LK, Marcelino, J, Prata, R, Costa, AC, Duarte, F, Neto, M, Santos, J, Pestana, LC, Sampaio, D, Minale, P, Dignetti, P, Bignardi, D, Nedelea, I, Popescu, F-D, Vieru, M, Secureanu, F-A, Ganea, CS, Vieira, M, Silva, JPM, Watts, T, Watts, S, Lomikovska, M, Peredelskaya, M, Nenasheva, N, Filipovic, I, Zivkovic, Z, Filipovic, D, Higgs, J, Warner, A, and Jones, C

Published
2017

25. Diagnostic relevance of IgE sensitization profiles to eight recombinant <italic>Phleum pratense</italic> molecules.

Author

Cipriani, F., Mastrorilli, C., Tripodi, S., Ricci, G., Perna, S., Panetta, V., Asero, R., Dondi, A., Bianchi, A., Maiello, N., Miraglia del Giudice, M., Frediani, T., Macrì, F., Lucarelli, S., Dello Iacono, I., Patria, M. F., Varin, E., Peroni, D., Chini, L., and Moschese, V.

Subjects
CONJUNCTIVITIS, ATOPY, CONJUNCTIVA diseases, EYE inflammation, ALLERGIES, IMMUNOLOGIC diseases
Abstract

Abstract: Background: Grass pollen‐related seasonal allergic rhinoconjunctivitis (SARg) is clinically heterogeneous in severity, comorbidities, and response to treatment. The component‐resolved diagnostics disclosed also a high heterogeneity at molecular level. Our study aimed at analyzing the characteristics of the IgE sensitization to Phleum pratense molecules and investigating the diagnostic relevance of such molecules in childhood. Methods: We examined 1120 children (age 4‐18 years) with SARg. Standardized questionnaires on atopy were acquired through informatics platform (AllergyCARD™). Skin prick tests were performed with pollen extracts. Serum IgE to airborne allergens and eight P. pratense molecules (rPhl p 1, rPhl p 2, rPhl p 4, rPhl p 5b, rPhl p 6, rPhl p 7, rPhl p 11, rPhl p 12) were tested by ImmunoCAP FEIA. Results: The analysis of IgE responses against eight P. pratense molecules showed 87 profiles. According to the number of molecules recognized by IgE, the more complex profiles were characterized by higher serum total IgE, higher grass‐specific serum IgE, and higher number and degree of sensitization to pollens. The most frequent IgE sensitization profile was the monomolecular Phl p 1. Sensitization to Phl p 7 was a reliable biomarker of asthma, whereas Phl p 12 of oral allergy syndrome. Sensitization to Phl p 7 was associated with a higher severity of SARg, and complex profiles were associated with longer disease duration. Conclusions: In a large pediatric population, the complexity of IgE sensitization profiles against P. pratense molecules is related to high atopic features although useless for predicting the clinical severity. The detection of serum IgE to Phl p 1, Phl p 7, and Phl p 12 can be used as clinical biomarkers of SARg and comorbidities. Further studies in different areas are required to test the impact of different IgE molecular profiles on AIT response. [ABSTRACT FROM AUTHOR]

Published
2018
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27. Dual response to human papilloma virus vaccine in an immunodeficiency disorder: resolution of plantar warts and persistence of condylomas.

Author

Moscato, G.M.F., Di Matteo, G., Ciotti, M., Di Bonito, P., Andreoni, M., and Moschese, V.

Subjects
PAPILLOMAVIRUSES, IMMUNODEFICIENCY, PLANTAR warts
Abstract

A letter to the editor is presented that discusses human papilloma virus vaccine in an immunodeficiency disorder for the resolution of plantar warts and persistence of condylomas.

Published
2016
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28. The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019)

Author

A G Ugazio, Giovanna Russo, Maria Giovanna Danieli, Alberto Tommasini, Maria Cristina Pietrogrande, Raffaele Badolato, Andrea Pession, Carlo Agostini, Fabio Cardinale, Eleonora Gambineri, Baldassare Martire, Adele Civino, Manuela Baronio, Marco Gattorno, Marco Zecca, Viviana Moschese, Chiara Azzari, Alessio Benvenuto, Marzia Duse, Antonino Trizzino, Luisa Gazzurelli, Isabella Quinti, Vassilios Lougaris, Andrea Matucci, Giuseppe Spadaro, Claudio Lunardi, Angelo Vacca, Roberto Rondelli, Maria Caterina Putti, Luciana Chessa, Giovanna Fabio, Andrea Biondi, Fausto Cossu, Roberto Paganelli, Paolo Rossi, Rita Consolini, Alessandro Aiuti, Gian Luigi Marseglia, Luigi Carpino, Caterina Cancrini, Maddalena Marinoni, Silvana Martino, Claudio Pignata, Annarosa Soresina, Patrizia Bertolini, Alessandro Plebani, 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, and Plebani, A

Subjects
Adult, Male, medicine.medical_specialty, Pediatrics, Primary immunodeficiencies, Adolescent, Databases, Factual, Primary Immunodeficiency Diseases, Immunology, Age at diagnosis, History, 21st Century, Combined immunodeficiencies, Young Adult, Medical microbiology, patient registry, Epidemiology, medicine, Prevalence, Immunology and Allergy, Humans, Registries, Geography, Medical, Child, Adult patients, business.industry, Infant, Newborn, Infant, History, 20th Century, medicine.disease, Prognosis, Settore MED/38, Natural history, Italy, Child, Preschool, Population Surveillance, Cohort, Primary immunodeficiency, Original Article, Female, business
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

29. Consensus statement of the Italian society of pediatric allergy and immunology for the pragmatic management of children and adolescents with allergic or immunological diseases during the COVID-19 pandemic

Author

Fabio Cardinale, Giorgio Ciprandi, Salvatore Barberi, Roberto Bernardini, Carlo Caffarelli, Mauro Calvani, Giovanni Cavagni, Elena Galli, Domenico Minasi, Michele Miraglia Del Giudice, Viviana Moschese, Elio Novembre, Francesco Paravati, Diego G Peroni, Maria Angela Tosca, Giovanni Traina, Salvatore Tripodi, Gian Luigi Marseglia, Doriana Amato, Caterina Anania, Elisa Anastasio, Rachele Antignani, Stefania Arasi, Martire Baldassarre, Ermanno Baldo, Andrea Barbalace, Simona Barni, Federica Betti, Annamaria Bianchi, Ezio Bolzacchini, Maira Bonini, Paolo Bottau, Sara Bozzetto, Maria Antonia Brighetti, Davide Caimmi, Silvia Caimmi, Luigi Calzone, Caterina Cancrini, Lucia Caminiti, Giulia Capata, Lucetta Capra, Carlo Capristo, Elena Carboni, Francesco Carella, Riccardo Castagnoli, Elena Chiappini, Fernanda Chiera, Iolanda Chinellato, Loredana Chini, Francesca Cipriani, Flavio Civitelli, Pasquale Comberiati, Daniele Contini, Stefania Corrente, Claudio Cravidi, Giuseppe Crisafulli, Barbara Cuomo, Enza D'Auria, Sofia D'Elios, Fabio Decimo, Auro Della Giustina, Rosa Maria Delle Piane, Maria De Filippo, Valentina De Vittori, Lucia Diaferio, Maria Elisa Di Cicco, Dora Di Mauro, Marzia Duse, Silvia Federici, Giuseppe Felice, Maria Grazia Fenu, Giuliana Ferrante, Tiziana Foti, Fabrizio Franceschini, Daniele Ghiglioni, Giuliana Giardino, Mattia Giovannini, Giovanni Cosimo Indirli, Cristiana Indolfi, Massimo Landi, Francesco La Torre, Lucia Maddalena Leone, Amelia Licari, Lucia Liotti, Vassilios Lougaris, Nunzia Maiello, Paride Mantecca, Sara Manti, Marco Maria Mariani, Alberto Martelli, Carla Mastrorilli, Violetta Mastrorilli, Davide Montin, Francesca Mori, Roberta Olcese, Giorgio Ottaviano, Claudia Paglialunga, Giovanni Pajno, Giuseppe Parisi, Stefano Pattini, Luca Pecoraro, Umberto Pelosi, Claudio Pignata, Giampaolo Ricci, Silvia Ricci, Stefano Rizzi, Caterina Rizzo, Sara Rosati, Paolo Rosso, Maria Sangerardi, Angelica Santoro, Francesca Saretta, Lucrezia Sarti, Marco Sartorio, Majla Sgruletti, Annarosa Soresina, Ifigenia Sfika, Mayla Sgrulletti, Nuccia Tesse, Valentina Tranchino, Alessandro Travaglini, Malizia Velia, Elvira Verduci, Mario Vernich, Elisabetta Veronelli, Stefano Volpi, Martina Votto, Anna Maria Zicari, Cardinale, F., Ciprandi, G., Barberi, S., Bernardini, R., Caffarelli, C., Calvani, M., Cavagni, G., Galli, E., Minasi, D., Del Giudice, M. M., Moschese, V., Novembre, E., Paravati, F., Peroni, D. G., Tosca, M. A., Traina, G., Tripodi, S., Marseglia, G. L., Amato, D., Anania, C., Anastasio, E., Antignani, R., Arasi, S., Baldassarre, M., Baldo, E., Barbalace, A., Barni, S., Betti, F., Bianchi, A., Bolzacchini, E., Bonini, M., Bottau, P., Bozzetto, S., Brighetti, M. A., Caimmi, D., Caimmi, S., Calzone, L., Cancrini, C., Caminiti, L., Capata, G., Capra, L., Capristo, C., Carboni, E., Carella, F., Castagnoli, R., Chiappini, E., Chiera, F., Chinellato, I., Chini, L., Cipriani, F., Civitelli, F., Comberiati, P., Contini, D., Corrente, S., Cravidi, C., Crisafulli, G., Cuomo, B., D'Auria, E., D'Elios, S., Decimo, F., Giustina, A. D., Piane, R. M. D., De Filippo, M., De Vittori, V., Diaferio, L., Di Mauro, M. E., Duse, M., Federici, S., Felice, G., Fenu, G., Ferrante, G., Foti, T., Franceschini, F., Ghiglioni, D., Giardino, G., Giovannini, M., Indirli, G. C., Indolfi, C., Landi, M., La Torre, F., Leone, L. M., Licari, A., Liotti, L., Lougaris, V., Maiello, N., Mantecca, P., Manti, S., Mariani, M. M., Martelli, A., Mastrorilli, C., Mastrorilli, V., Montin, D., Mori, F., Olcese, R., Ottaviano, G., Paglialunga, C., Pajno, G., Parisi, G., Pattini, S., Pecoraro, L., Pelosi, U., Pignata, C., Ricci, G., Ricci, S., Rizzi, S., Rizzo, C., Rosati, S., Rosso, P., Sangerardi, M., Santoro, A., Saretta, F., Sarti, L., Sartorio, M., Sgruletti, M., Soresina, A., Sfika, I., Sgrulletti, M., Tesse, N., Tranchino, V., Travaglini, A., Velia, M., Verduci, E., Vernich, M., Veronelli, E., Volpi, S., Votto, M., Zicari, A. M., Cardinale, Fabio, Ciprandi, Giorgio, Barberi, Salvatore, Bernardini, Roberto, Caffarelli, Carlo, Calvani, Mauro, Cavagni, Giovanni, Galli, Elena, Minasi, Domenico, Del Giudice, Michele Miraglia, Moschese, Viviana, Novembre, Elio, Paravati, Francesco, Peroni, Diego G, Tosca, Maria Angela, Traina, Giovanni, Tripodi, Salvatore, Marseglia, Gian Luigi, SIAIP task force Pignata, Claudio, Cardinale, F, Ciprandi, G, Barberi, S, Bernardini, R, Caffarelli, C, Calvani, M, Cavagni, G, Galli, E, Minasi, D, Del Giudice, M, Moschese, V, Novembre, E, Paravati, F, Peroni, D, Tosca, M, Traina, G, Tripodi, S, Marseglia, G, Amato, D, Anania, C, Anastasio, E, Antignani, R, Arasi, S, Baldassarre, M, Baldo, E, Barbalace, A, Barni, S, Betti, F, Bianchi, A, Bolzacchini, E, Bonini, M, Bottau, P, Bozzetto, S, Brighetti, M, Caimmi, D, Caimmi, S, Calzone, L, Cancrini, C, Caminiti, L, Capata, G, Capra, L, Capristo, C, Carboni, E, Carella, F, Castagnoli, R, Chiappini, E, Chiera, F, Chinellato, I, Chini, L, Cipriani, F, Civitelli, F, Comberiati, P, Contini, D, Corrente, S, Cravidi, C, Crisafulli, G, Cuomo, B, D'Auria, E, D'Elios, S, Decimo, F, Giustina, A, Piane, R, De Filippo, M, De Vittori, V, Diaferio, L, Di Mauro, M, Duse, M, Federici, S, Felice, G, Fenu, G, Ferrante, G, Foti, T, Franceschini, F, Ghiglioni, D, Giardino, G, Giovannini, M, Indirli, G, Indolfi, C, Landi, M, La Torre, F, Leone, L, Licari, A, Liotti, L, Lougaris, V, Maiello, N, Mantecca, P, Manti, S, Mariani, M, Martelli, A, Mastrorilli, C, Mastrorilli, V, Montin, D, Mori, F, Olcese, R, Ottaviano, G, Paglialunga, C, Pajno, G, Parisi, G, Pattini, S, Pecoraro, L, Pelosi, U, Pignata, C, Ricci, G, Ricci, S, Rizzi, S, Rizzo, C, Rosati, S, Rosso, P, Sangerardi, M, Santoro, A, Saretta, F, Sarti, L, Sartorio, M, Sgruletti, M, Soresina, A, Sfika, I, Sgrulletti, M, Tesse, N, Tranchino, V, Travaglini, A, Velia, M, Verduci, E, Vernich, M, Veronelli, E, Volpi, S, Votto, M, Zicari, A, and Fabio Cardinale, Giorgio Ciprandi, Salvatore Barberi, Roberto Bernardini, Carlo Caffarelli, Mauro Calvani, Giovanni Cavagni, Elena Galli, Domenico Minasi, Michele Miraglia Del Giudice, Viviana Moschese, Elio Novembre, Francesco Paravati, Diego G Peroni, Maria Angela Tosca, Giovanni Traina, Salvatore Tripodi, Gian Luigi Marseglia, Doriana Amato, Caterina Anania, Elisa Anastasio, Rachele Antignani, Stefania Arasi, Martire Baldassarre, Ermanno Baldo, Andrea Barbalace, Simona Barni, Federica Betti, Annamaria Bianchi, Ezio Bolzacchini, Maira Bonini, Paolo Bottau, Sara Bozzetto, Maria Antonia Brighetti, Davide Caimmi, Silvia Caimmi, Luigi Calzone, Caterina Cancrini, Lucia Caminiti, Giulia Capata, Lucetta Capra, Carlo Capristo, Elena Carboni, Francesco Carella, Riccardo Castagnoli, Elena Chiappini, Fernanda Chiera, Iolanda Chinellato, Loredana Chini, Francesca Cipriani, Flavio Civitelli, Pasquale Comberiati, Daniele Contini, Stefania Corrente, Claudio Cravidi, Giuseppe Crisafulli, Barbara Cuomo, Enza D'Auria, Sofia D'Elios, Fabio Decimo, Auro Della Giustina, Rosa Maria Delle Piane, Maria De Filippo, Valentina De Vittori, Lucia Diaferio, Maria Elisa Di Cicco, Dora Di Mauro, Marzia Duse, Silvia Federici, Giuseppe Felice, Maria Grazia Fenu, Giuliana Ferrante, Tiziana Foti, Fabrizio Franceschini, Daniele Ghiglioni, Giuliana Giardino, Mattia Giovannini, Giovanni Cosimo Indirli, Cristiana Indolfi, Massimo Landi, Francesco La Torre, Lucia Maddalena Leone, Amelia Licari, Lucia Liotti, Vassilios Lougaris, Nunzia Maiello, Paride Mantecca, Sara Manti, Marco Maria Mariani, Alberto Martelli, Carla Mastrorilli, Violetta Mastrorilli, Davide Montin, Francesca Mori, Roberta Olcese, Giorgio Ottaviano, Claudia Paglialunga, Giovanni Pajno, Giuseppe Parisi, Stefano Pattini, Luca Pecoraro, Umberto Pelosi, Claudio Pignata, Giampaolo Ricci, Silvia Ricci, Stefano Rizzi, Caterina Rizzo, Sara Rosati, Paolo Rosso, Maria Sangerardi, Angelica Santoro, Francesca Saretta, Lucrezia Sarti, Marco Sartorio, Majla Sgruletti, Annarosa Soresina, Ifigenia Sfika, Mayla Sgrulletti, Nuccia Tesse, Valentina Tranchino, Alessandro Travaglini, Malizia Velia, Elvira Verduci, Mario Vernich, Elisabetta Veronelli, Stefano Volpi, Martina Votto, Anna Maria Zicari

Subjects
Allergy, Review, 030207 dermatology & venereal diseases, Settore MED/38 - Pediatria Generale E Specialistica, 0302 clinical medicine, COVID-19, Child, Pandemic, Immunologic disease, Asthma, Adolescent, Viral, 030212 general & internal medicine, Disease management (health), Societies, Medical, pandemic, child, adolescent, allergy, asthma, immunologic disease, Incidence (epidemiology), lcsh:RJ1-570, Disease Management, General Medicine, Atopic dermatitis, Settore MED/38, Coronavirus Infections, Decision Making, Humans, Italy, Pneumonia, Viral, Pragmatic Clinical Trials as Topic, SARS-CoV-2, Allergy and Immunology, Betacoronavirus, Consensus, Pandemics, Latex allergy, Human, Telemedicine, Consensu, 03 medical and health sciences, Medical, medicine, Risk factor, Betacoronaviru, business.industry, Coronavirus Infection, lcsh:Pediatrics, Pneumonia, medicine.disease, Immunology, Societies, business, Rare disease
Abstract

The COVID-19 pandemic has surprised the entire population. The world has had to face an unprecedented pandemic. Only, Spanish flu had similar disastrous consequences. As a result, drastic measures (lockdown) have been adopted worldwide. Healthcare service has been overwhelmed by the extraordinary influx of patients, often requiring high intensity of care. Mortality has been associated with severe comorbidities, including chronic diseases. Patients with frailty were, therefore, the victim of the SARS-COV-2 infection. Allergy and asthma are the most prevalent chronic disorders in children and adolescents, so they need careful attention and, if necessary, an adaptation of their regular treatment plans. Fortunately, at present, young people are less suffering from COVID-19, both as incidence and severity. However, any age, including infancy, could be affected by the pandemic.Based on this background, the Italian Society of Pediatric Allergy and Immunology has felt it necessary to provide a Consensus Statement. This expert panel consensus document offers a rationale to help guide decision-making in the management of children and adolescents with allergic or immunologic diseases.

Published
2020

30. Rituximab unveils hypogammaglobulinemia and immunodeficiency in children with autoimmune cytopenia

Author

Viviana Moschese, Giuseppe Lassandro, Caterina Cancrini, Paola Saracco, Keith Sibson, Claudio Pignata, Antonino Trizzino, Maurizio Miano, Carmela Giancotta, Maria Gabelli, Cecilia Bava, Federica Barzaghi, Simona Graziani, Rosa Angarano, Andrea Biondi, Samuele Naviglio, Baldassare Martire, Federico Verzegnassi, Patrizia Bertolini, Maddalena Marinoni, Paola Giordano, Giorgio Ottaviano, Elena Mastrodicasa, Loredana Chini, Vera Gallo, Irene D'Alba, Paola Corti, Ottaviano, Gianmarco, Marinoni, M., Graziani, S., Sibson, K., Barzaghi, F., Bertolini, P., Chini, L., Corti, P., Cancrini, C., D'Alba, I., Gabelli, M., Gallo, V., Giancotta, C., Giordano, P., Lassandro, G., Martire, B., Angarano, R., Mastrodicasa, E., Bava, Anna, Miano, M., Naviglio, S., Verzegnassi, F., Saracco, P., Trizzino, A., Biondi, A., Pignata, C., Moschese, V., Ottaviano, G, Marinoni, M, Graziani, S, Sibson, K, Barzaghi, F, Bertolini, P, Chini, L, Corti, P, Cancrini, C, D'Alba, I, Gabelli, M, Gallo, V, Giancotta, C, Giordano, P, Lassandro, G, Martire, B, Angarano, R, Mastrodicasa, E, Bava, C, Miano, M, Naviglio, S, Verzegnassi, F, Saracco, P, Trizzino, A, Biondi, A, Pignata, C, and Moschese, V

Subjects
medicine.medical_specialty, Evans syndrome, Hypogammaglobulinemia, Autoimmunity, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Agammaglobulinemia, hemic and lymphatic diseases, Internal medicine, medicine, Immunology and Allergy, Humans, 030212 general & internal medicine, Child, Immunodeficiency, Settore MED/38 - Pediatria Generale e Specialistica, Cytopenia, Purpura, Thrombocytopenic, Idiopathic, Primary immunodeficiency, business.industry, Autoimmune Cytopenia, medicine.disease, Thrombocytopenia, Rituximab, Treatment Outcome, 030228 respiratory system, Anemia, Hemolytic, Autoimmune, Autoimmune hemolytic anemia, business, medicine.drug
Abstract

Background: Rituximab (RTX; anti-CD20 mAb) is a treatment option in children with refractory immune thrombocytopenia, autoimmune hemolytic anemia (AHA), and Evans syndrome (ES). Prevalence and clinical course of RTX-induced hypogammaglobulinemia in these patients are poorly known. Objective: To evaluate the prevalence and risk factors for persistent hypogammaglobulinemia (PH) after RTX use. Methods: Clinical and immunologic data from children treated with RTX for immune thrombocytopenia, AHA, and ES were collected from 16 Italian centers and 1 UK center at pre-RTX time point (0), +6 months, and yearly, up to 4 years post-RTX. Patients with previously diagnosed malignancy or primary immune deficiency (PID) were excluded. Results: We analyzed 53 children treated with RTX for immune thrombocytopenia (n = 36), AHA (n = 13), and ES (n = 4). Median follow-up was 30 months (range, 12-48). Thirty-two percent of patients (17 of 53) experienced PH, defined as IgG levels less than 2 SD for age at last follow-up (>12 months after RTX). Significantly delayed B-cell recovery was observed in children experiencing PH (hazard ratio, 0.55; P

Published
2020

31. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author

Tim Niehues, Catherine Waruiru, Conleth Feighery, Uwe Schauer, Virginie Courteille, Kai Lehmberg, Ingo Müller, I. Esteves, Henner Morbach, Michael Borte, Patrick Hundsdoerfer, Klaus Schwarz, Ewelina Gowin, Alessandro Aiuti, Andreas Holbro, Federica Barzaghi, João Farela Neves, Dagmar Graf, Hannah Tamary, Veneta Milenova, Benedikt Boetticher, Eleonora Gambineri, Vera Goda, Alia Eldash, Jan-Christian Wasmuth, Fabio Candotti, Svetlana O. Sharapova, Markus Metzler, Juergen Brunner, Anna Hilfanova, Brindusa Ruxandra Capilna, Pere Soler-Palacín, Arnau Antolí, Horst von Bernuth, Vassilios Lougaris, Maria Carrabba, Bernd H. Belohradsky, Julian Thalhammer, Nathalie de Vergnes, Peter Olbrich, Peter Kopač, Leif G. Hanitsch, Alexandra Nieters, Filomeen Haerynck, Juliana Gabzdilova, Sezin Aydemir, Rabab El Hawary, Patrick F.K. Yong, Maria Giovanna Danieli, Alberto Tommasini, Sandra Steinmann, Ulrich Baumann, Figen Dogu, Elisabeth Förster-Waldl, Carolina Marasco, Donato Amodio, Lorenzo Lodi, Xavier Solanich, Caterina Cancrini, Brigita Sitkauskiene, Torsten Witte, Clementina Vanessa, Nima Rezaei, Jean-Christophe Goffard, Kirsten Wittke, Emmanouil Liatsis, Helen Baxendale, Susana L. Silva, Bodo Grimbacher, Henrike Ritterbusch, Evangelia Farmaki, Safa Meshaal, Sujal Ghosh, Larysa Kostyuchenko, David Edgar, Simone Cesaro, R Zeuner, Nerea Salmón Rodríguez, Isabella Quinti, Stephan Ehl, Pauline Brosselin, Joerg C. Henes, Pilar Llobet Agulló, Rosa Maria Dellepiane, Andrea Meinhardt, Marina Kojić, Georgios Sogkas, Stephan Borte, Catharina Schuetz, Suheyla Ocak, Karin Marschall, Lukas M. Gasteiger, Stefan Raffac, Sofia Tantou, Sadia Noorani, Matthaios Speletas, Philippe Randrianomenjanahary, Ursula Holzer, Ayca Kiykim, Johannes G. Liese, Angelo Vacca, Gisela Fecker, Ekrem Unal, Koen J. van Aerde, Alba Parra-Martínez, Kaan Boztug, Sophie Stiehler, Sybille Landwehr-Kenzel, Claudio Pignata, Jennifer Neubert, Janine Reichenbach, Shahnaz Parvin, Sarah Goddard, Andrea Schroll, Dirk Holzinger, Asghar Aghamohammadi, Hassan Abolhassani, Johannes Trück, Estela Paz-Artal, Shereen M. Reda, Anna Shcherbina, Maria Raptaki, Jaroslava Orosova, Beata Wolska-Kuśnierz, Tessa Kerre, Gerrit Ahrenstorf, Ben Zion Garty, Dirk Foell, Benjamin Becker, Ulrike F. Demel, Androniki Kapousouzi, Abraham Rutgers, Klaus Warnatz, Gemma Rocamora Blanch, Stephan Rusch, Luis M. Allende, Dalia Abd Elaziz, Safa Baris, Jorisvan Montfrans, Dominik T. Schneider, Raphael Scheible, Juana Gil-Herrera, Gerhard Kindle, Annarosa Soresina, Giovanna Fabio, Uwe Wintergerst, Emilia Faria, Maria Fasshauer, Silvia Ricci, Aisha Elmarsafy, Barbara Pietrucha, Carsten Speckmann, Nizar Mahlaoui, Ulrich Heininger, Isabelle Meyts, Matthew Buckland, Efimia Papadopoulou-Alataki, Robin Kobbe, A Herwadkar, Sebastian F. N. Bode, Ali Sobh, László Maródi, Baldassarre Martire, Chiara Azzari, Maximilian Heeg, Katja Masjosthusmann, Michael H. Albert, Matteo Chinello, Juan Luis Santos-Pérez, Aarnoud Huissoon, Tanya I. Coulter, Hendrik Schulze-Koops, Norbert Graf, Radwa Alkady, Jolanta Bernatoniene, Seraina Prader, Alenka Gagro, Joachim Roesler, Taco W. Kuijpers, Ewa Więsik-Szewczyk, Maria Elena Maccari, Conrad Ferdinand Lippert, Miriam González-Amores, Johannes Dirks, Daniel E Pleguezuelo, Christof M. Kramm, Anders Fasth, Volker Schuster, Olov Ekwall, Nikolaus Rieber, Javier Carbone, Petra Kaiser-Labusch, Diana Ernst, Lucia Augusta Baselli, Luis Ignacio Gonzalez-Granado, Maria Kanariou, Stefanie S. V. Henriet, Sigune Goldacker, Kerstin Felgentreff, Oana Joean, Fine Roosens, Fabian Hauck, Eva C. Schwaneck, Milos Jesenak, Manfred Hoenig, Lenka Kapustova, Christoph Boesecke, Alain Fischer, Sara Pereira da Silva, Julia Körholz, Ansgar Schulz, Carolynne Schwarze-Zander, Mikko Seppänen, Nermeen Galal, Nora Naumann-Bartsch, Tomaz Garcez, Peter Ciznar, Klara M. Posfay-Barbe, Zelimir Pavle Eric, Reinhold E. Schmidt, Hermann J. Girschick, Sabine Heine, Anika-Kerstin Biegner, Annick A. J. M. van de Ven, Stefan Schreiber, J. Merlijn van den Berg, Nurit Assia Batzir, Alexandra Jablonka, Kim Stol, Gregor Dückers, Antonios G.A. Kolios, Ioannis Kakkas, Christian Klemann, Marina N. Guseva, Sofia Grigoriadou, Elif Karakoc-Aydiner, Antonio Marzollo, Peter D. Arkwright, Urs C. Steiner, Sara Sebnem Kilic, Romina Dieli-Crimi, Gergely Kriván, Monika Sparber-Sauer, Marco Cazzaniga, Fulvio Porta, Paraskevi Maggina, Tomas Milota, Robbert G. M. Bredius, Martine Pergent, Klaus Tenbrock, Jana Pachlopnik Schmid, Florentia Dimitriou, Cathal Laurence Steele, Helen Bourne, Anna Bobcakova, Gerd Horneff, Judith Potjewijd, Marc Schmalzing, Tobias Ankermann, Paul Ryan, Oksana Boyarchuk, Necil Kutukculer, Carl Friedrich Classen, Zita Chovancová, Moira Thomas, Cinzia Milito, Michaela Bitzenhofer-Grüber, Faranaz Atschekzei, Eva Hlaváčková, Viviana Moschese, Julie Smet, Hans-Hartmut Peter, Carla Teixeira, Sabine M El-Helou, Suzanne de Kruijf Bazen, Helmut Wittkowski, Donate Jakoby, Marina Garcia-Prat, Esther de Vries, Richard Herriot, Sven Kracker, Alessandro Plebani, Lisa Göschl, Laura Hora Marques, Anna Sediva, Jiri Litzman, Mark M. Gompels, Renate Krüger, Şefika İlknur Kökçü Karadağ, Nadine Binder, Anna Szaflarska, Peter Jandus, Lisa Ibberson, Johann Greil, Ulf Schulze-Sturm, Mehtap Sirin, Aydan Ikinciogullari, Edyta Heropolitańska-Pliszka, Michael E. Weiss, Alla Skapenko, Lukas Wisgrill, Hana Alachkar, Uta Behrends, Silvia Sánchez-Ramón, Maria N. Hatzistilianou, Otilia Petrovicova, Darko Richter, Zoreh Nademi, Jürgen K. Rockstroh, Sohilla Lotfy, Markus G. Seidel, Timothy Ronan Leahy, Audra Blažienė, Translational Immunology Groningen (TRIGR), Paediatric Infectious Diseases / Rheumatology / Immunology, AII - Inflammatory diseases, ARD - Amsterdam Reproduction and Development, University of Zurich, Ehl, Stephan, Thalhammer, J., Kindle, G., Nieters, A., Rusch, S., Seppanen, M. R. J., Fischer, A., Grimbacher, B., Edgar, D., Buckland, M., Mahlaoui, N., Ehl, S., Boztug, K., Brunner, J., Demel, U. F., Forster-Waldl, E., Gasteiger, L. M., Goschl, L., Kojic, M., Schroll, A., Seidel, M. G., Wintergerst, U., Wisgrill, L., Sharapova, S. O., Goffard, J. -C., Kerre, T., Meyts, I., Roosens, F., Smet, J., Haerynck, F., Eric, Z. P., Milenova, V., Gagro, A., Richter, D., Chovancova, Z., Hlavackova, E., Litzman, J., Milota, T., Sediva, A., Elaziz, D. A., Alkady, R. S., El Sayed El Hawary, R., Eldash, A. S., Galal, N., Lotfy, S., Meshaal, S. S., Reda, S. M., Sobh, A., Elmarsafy, A., Brosselin, P., Courteille, V., De Vergnes, N., Kracker, S., Pergent, M., Randrianomenjanahary, P., Ahrenstorf, G., Albert, M. H., Ankermann, T., Atschekzei, F., Baumann, U., Becker, B. C., Behrends, U., Belohradsky, B. H., Biegner, A. -K., Binder, N., Bode, S. F. N., Boesecke, C., Boetticher, B., Borte, M., Borte, S., Classen, C. F., Dirks, J., Duckers, G., El-Helou, S., Ernst, D., Fasshauer, M., Fecker, G., Felgentreff, K., Foell, D., Ghosh, S., Girschick, H. J., Goldacker, S., Graf, N., Graf, D., Greil, J., Hanitsch, L. G., Hauck, F., Heeg, M., Heine, S. I., Henes, J. C., Hoenig, M., Holzer, U., Holzinger, D., Horneff, G., Hundsdoerfer, P., Jablonka, A., Jakoby, D., Joean, O., Kaiser-Labusch, P., Klemann, C., Kobbe, R., Korholz, J., Kramm, C. M., Kruger, R., Landwehr-Kenzel, S., Lehmberg, K., Liese, J. G., Lippert, C. F., Maccari, M. E., Masjosthusmann, K., Meinhardt, A., Metzler, M., Morbach, H., Muller, I., Naumann-Bartsch, N., Neubert, J., Niehues, T., Peter, H. -H., Rieber, N., Ritterbusch, H., Rockstroh, J. K., Roesler, J., Schauer, U., Scheible, R., Schmalzing, M., Schmidt, R. E., Schneider, D. T., Schreiber, S., Schuetz, C., Schulz, A., Schulze-Koops, H., Schulze-Sturm, U., Schuster, V., Schwaneck, E. C., Schwarz, K., Schwarze-Zander, C., Sirin, M., Skapenko, A., Sogkas, G., Sparber-Sauer, M., Speckmann, C., Steinmann, S., Stiehler, S., Tenbrock, K., von Bernuth, H., Warnatz, K., Wasmuth, J. -C., Weiss, M., Witte, T., Wittke, K., Wittkowski, H., Zeuner, R. A., Farmaki, E., Hatzistilianou, M. N., Kakkas, I., Kanariou, M. G., Kapousouzi, A., Liatsis, E., Maggina, P., Papadopoulou-Alataki, E., Raptaki, M., Speletas, M., Tantou, S., Goda, V., Krivan, G., Marodi, L., Abolhassani, H., Aghamohammadi, A., Rezaei, N., Feighery, C., Leahy, T. R., Ryan, P., Batzir, N. A., Garty, B. Z., Tamary, H., Aiuti, A., Amodio, D., Azzari, C., Barzaghi, F., Baselli, L. A., Cancrini, C., Carrabba, M., Cazzaniga, M., Cesaro, S., Chinello, M., Danieli, M. G., Dellepiane, R. M., Fabio, G., Gambineri, E., Lodi, L., Lougaris, V., Marasco, C., Martire, B., Marzollo, A., Milito, C., Moschese, V., Pignata, C., Plebani, A., Porta, F., Quinti, I., Ricci, S., Soresina, A., Tommasini, A., Vacca, A., Vanessa, C., Blaziene, A., Sitkauskiene, B., Gowin, E., Heropolitanska-Pliszka, E., Pietrucha, B., Szaflarska, A., Wiesik-Szewczyk, E., Wolska-Kusnierz, B., Esteves, I., Faria, E., Marques, L. H., Neves, J. F., Silva, S. L., Teixeira, C., Pereira da Silva, S., Capilna, B. R., Guseva, M. N., Shcherbina, A., Bobcakova, A., Ciznar, P., Gabzdilova, J., Jesenak, M., Kapustova, L., Orosova, J., Petrovicova, O., Raffac, S., Kopac, P., Allende, L. M., Antoli, A., Blanch, G. R., Carbone, J., Dieli-Crimi, R., Garcia-Prat, M., Gil-Herrera, J., Gonzalez-Granado, L. I., Agullo, P. L., Olbrich, P., Parra-Martinez, A., Paz-Artal, E., Pleguezuelo, D. E., Rodriguez, N. S., Sanchez-Ramon, S., Santos-Perez, J. L., Solanich, X., Soler-Palacin, P., Gonzalez-Amores, M., Ekwall, O., Fasth, A., Bitzenhofer-Gruber, M., Candotti, F., Dimitriou, F., Heininger, U., Holbro, A., Jandus, P., Kolios, A. G. A., Marschall, K., Schmid, J. P., Posfay-Barbe, K. M., Prader, S., Reichenbach, J., Steiner, U. C., Truck, J., Bredius, R. G., de Kruijf- Bazen, S., de Vries, E., Henriet, S. S. V., Kuijpers, T. W., Potjewijd, J., Rutgers, A., Stol, K., van Aerde, K. J., Van den Berg, J. M., van de Ven, A. A. J. M., Montfrans, J., Aydemir, S., Baris, S., Dogu, F., Ikinciogullari, A., Karakoc-Aydiner, E., Kilic, S. S., Kiykim, A., Kokcu Karadag, S. I., Kutukculer, N., Ocak, S., Unal, E., Boyarchuk, O., Hilfanova, A., Kostyuchenko, L. V., Alachkar, H., Arkwright, P. D., Baxendale, H. E., Bernatoniene, J., Coulter, T. I., Garcez, T., Goddard, S., Gompels, M. M., Grigoriadou, S., Herriot, R., Herwadkar, A., Huissoon, A., Ibberson, L., Nademi, Z., Noorani, S., Parvin, S., Steele, C. L., Thomas, M., Waruiru, C., Yong, P. F. K., and Bourne, H.

Subjects
0301 basic medicine, Male, Pediatrics, syndromic, Sex Factor, Disease, registry, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Primary Immunodeficiency Disease, inborn error of immunity, Immunology and Allergy, warning signs, Age Factor, Registries, Family history, presenting symptom, Child, Primary immunodeficiency, Granuloma, autoimmune, immune dysregulation, inflammatory, Adult, Autoimmune Diseases, Female, Humans, Infections, Lymphoproliferative Disorders, Middle Aged, Primary Immunodeficiency Diseases, Sex Factors, Age Factors, 10177 Dermatology Clinic, Infections/epidemiology, 3. Good health, Settore MED/02, Warning signs, Lymphoproliferative Disorder, 2723 Immunology and Allergy, Infection, Human, medicine.medical_specialty, Immunology, 610 Medicine & health, Malignancy, primary immunodeficiency, Autoimmune Disease, 03 medical and health sciences, Immunity, Autoimmune Diseases/epidemiology, medicine, 2403 Immunology, business.industry, warning sign, Common variable immunodeficiency, Granuloma/epidemiology, Immune dysregulation, medicine.disease, Primary Immunodeficiency Diseases/epidemiology, 030104 developmental biology, Lymphoproliferative Disorders/epidemiology, Cohort Studie, business, 030215 immunology
Abstract

BACKGROUND: Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should improve awareness and avoid diagnostic delay. Although increased infection susceptibility is a well-known initial IEI manifestation, less is known about the frequency of other presenting manifestations.OBJECTIVE: We sought to analyze age-related initial presenting manifestations of IEI including different IEI disease cohorts.METHODS: We analyzed data on 16,486 patients of the European Society for Immunodeficiencies Registry. Patients with autoinflammatory diseases were excluded because of the limited number registered.RESULTS: Overall, 68% of patients initially presented with infections only, 9% with immune dysregulation only, and 9% with a combination of both. Syndromic features were the presenting feature in 12%, 4% had laboratory abnormalities only, 1.5% were diagnosed because of family history only, and 0.8% presented with malignancy. Two-third of patients with IEI presented before the age of 6 years, but a quarter of patients developed initial symptoms only as adults. Immune dysregulation was most frequently recognized as an initial IEI manifestation between age 6 and 25 years, with male predominance until age 10 years, shifting to female predominance after age 40 years. Infections were most prevalent as a first manifestation in patients presenting after age 30 years.CONCLUSIONS: An exclusive focus on infection-centered warning signs would have missed around 25% of patients with IEI who initially present with other manifestations.

Published
2021

32. Consensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity

Author

Baldassarre Martire, Luciana Chessa, Alessandro Plebani, Francesca Conti, Andrea Finocchi, Francesca Ferrua, Laura Dotta, Clementina Canessa, Vassilios Lougaris, Donato Amodio, Emilia Cirillo, Davide Montin, Federica Barzaghi, Franco Locatelli, Alberto Tommasini, Viviana Moschese, Maria Pia Cicalese, Rosa Maria Dellepiane, Andrea Pession, Chiara Azzari, Lucia Augusta Baselli, Caterina Cancrini, Maria Caterina Putti, Raffaele Badolato, Alessandro Aiuti, Claudio Pignata, Annarosa Soresina, Roberta Romano, Silvia Ricci, Agata Polizzi, Antonio Marzollo, Giuliana Giardino, Cirillo, E., Giardino, G., Ricci, S., Moschese, V., Lougaris, V., Conti, F., Azzari, C., Barzaghi, F., Canessa, C., Martire, B., Badolato, R., Dotta, L., Soresina, A., Cancrini, C., Finocchi, A., Montin, D., Romano, R., Amodio, D., Ferrua, F., Tommasini, A., Baselli, L. A., Dellepiane, R. M., Polizzi, A., Chessa, L., Marzollo, A., Cicalese, M. P., Putti, M. C., Pession, A., Aiuti, A., Locatelli, F., Plebani, A., Pignata, C., Cirillo, Emilia, Giardino, Giuliana, Ricci, Silvia, Moschese, Viviana, Lougaris, Vassilio, Conti, Francesca, Azzari, Chiara, Barzaghi, Federica, Canessa, Clementina, Martire, Baldassarre, Badolato, Raffaele, Dotta, Laura, Soresina, Annarosa, Cancrini, Caterina, Finocchi, Andrea, Montin, Davide, Romano, Roberta, Amodio, Antonio, Ferrua, Francesca, Tommasini, Alberto, Baselli, Lucia Augusta, Dellepiane, Rosa Maria, Polizzi, Agata, Chessa, Luciana, Marzollo, Antonio, Cicalese, Mariapia, Putti, Maria Caterina, Pession, Andrea, Aiuti, Alessandro, Locatelli, Franco, Plebani, Alessandro, and Pignata, Claudio

Subjects
0301 basic medicine, Stress management, DiGeorge syndrome, Italian Network of Primary Immunodeficiencies, Transitional care, combined immunodeficiency, dna-repai syndromes, humoral immune defects, inborn errors of immunity, innate immune defects, primary immunodeficiency, DNA repair syndromes, 0302 clinical medicine, Italian Network of Primary Immunodeficiencie, Intellectual disability, Immunology and Allergy, Medicine, dna-repai syndrome, Age of Onset, Child, Settore MED/38, Italy, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Practice Guidelines as Topic, Adult, medicine.medical_specialty, Transition to Adult Care, Consensus, Genetic counseling, Primary Immunodeficiency Diseases, Immunology, humoral immune defect, 03 medical and health sciences, Quality of life (healthcare), Humans, Information Services, business.industry, Common variable immunodeficiency, medicine.disease, DNA repair syndrome, 030104 developmental biology, Family medicine, Primary immunodeficiency, Age of onset, business, innate immune defect, 030217 neurology & neurosurgery
Abstract

Medical advances have dramatically improved the long-term prognosis of children and adolescents with inborn errors of immunity (IEIs). Transfer of the medical care of individuals with pediatric IEIs to adult facilities is also a complex task because of the large number of distinct disorders, which requires involvement of patients and both pediatric and adult care providers. To date, there is no consensus on the optimal pathway of the transitional care process and no specific data are available in the literature regarding patients with IEIs. We aimed to develop a consensus statement on the transition process to adult health care services for patients with IEIs. Physicians from major Italian Primary Immunodeficiency Network centers formulated and answered questions after examining the currently published literature on the transition from childhood to adulthood. The authors voted on each recommendation. The most frequent IEIs sharing common main clinical problems requiring full attention during the transitional phase were categorized into different groups of clinically related disorders. For each group of clinically related disorders, physicians from major Italian Primary Immunodeficiency Network institutions focused on selected clinical issues representing the clinical hallmark during early adulthood.

Published
2020

33. Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality

Author

Ludovica Crescenzi, Emilia Cirillo, Alessio Benvenuto, Fabio Cardinale, Andrea Pession, Federica Pulvirenti, Simona Ferrari, Maria Caterina Putti, Giovanna Fabio, Rita Consolini, Fausto Cossu, Andrea Finocchi, Stefano Volpi, Angelo Vacca, Carolina Marasco, Marco Zecca, Claudio Pignata, Viviana Moschese, Gigliola Di Matteo, Lucia Leonardi, Raffaele Badolato, Marzia Duse, A G Ugazio, Manuela Baronio, Maddalena Marinoni, Chiara Azzari, Sara Signa, Silvana Martino, Maria Licciardello, Rosa Maria Dellepiane, Lucia Augusta Baselli, Luisa Gazzurelli, Giuseppe Spadaro, Claudio Lunardi, Cinzia Milito, Baldassare Martire, Alessandro Plebani, Francesca Conti, Caterina Cancrini, Maria Carrabba, Patrizia Bertolini, Francesco Cinetto, Davide Montin, Antonino Trizzino, Isabella Quinti, Vassilios Lougaris, Annarosa Soresina, Silvia Ricci, Silvia Giliani, Lougaris, V., Soresina, A., Baronio, M., Montin, D., Martino, S., Signa, S., Volpi, S., Zecca, M., Marinoni, M., Baselli, L. A., Dellepiane, R. M., Carrabba, M., Fabio, G., Putti, M. C., Cinetto, F., Lunardi, C., Gazzurelli, L., Benvenuto, A., Bertolini, P., Conti, F., Consolini, R., Ricci, S., Azzari, C., Leonardi, L., Duse, M., Pulvirenti, F., Milito, C., Quinti, I., Cancrini, C., Finocchi, A., Moschese, V., Cirillo, E., Crescenzi, L., Spadaro, G., Marasco, C., Vacca, A., Cardinale, F., Martire, B., Trizzino, A., Licciardello, M., Cossu, F., Di Matteo, G., Badolato, R., Ferrari, S., Giliani, S., Pession, A., Ugazio, A., Pignata, C., and Plebani, A.

Subjects
Lung Diseases, Male, 0301 basic medicine, Pediatrics, X-linked agammaglobulinemia, Bruton tyrosine kinase, 0302 clinical medicine, Bruton’s tyrosin kinase, Agammaglobulinemia, Immunology and Allergy, Medicine, Child, biology, Incidence (epidemiology), Chronic sinusitis, Genetic Diseases, X-Linked, Middle Aged, Settore MED/38, Natural history, Italy, chronic lung disease, Genetic Diseases, Child, Preschool, Adolescent, Adult, Follow-Up Studies, Humans, Infant, Infant, Newborn, Infections, Sinusitis, Survival Analysis, Young Adult, Antibody, medicine.medical_specialty, Long term follow up, Immunology, 03 medical and health sciences, Preschool, business.industry, X-Linked, Newborn, medicine.disease, 030104 developmental biology, Lung disease, Primary immunodeficiency, biology.protein, business, 030215 immunology
Abstract

Background X-linked agammaglobulinemia (XLA) is the prototype of primary humoral immunodeficiencies. Long-term follow-up studies regarding disease-related complications and outcome are scarce. Objective Our aim was to describe the natural history of XLA. Methods A nationwide multicenter study based on the Italian Primary Immunodeficiency Network registry was established in 2000 in Italy. Affected patients were enrolled by documenting centers, and the patients' laboratory, clinical, and imaging data were recorded on an annual base. Results Data on the patients (N = 168) were derived from a cumulative follow-up of 1370 patient-years, with a mean follow-up of 8.35 years per patient. The mean age at diagnosis decreased after establishment of the Italian Primary Immunodeficiency Network registry (84 months before vs 23 months after). Respiratory, skin, and gastrointestinal manifestations were the most frequent clinical symptoms at diagnosis and during long-term follow-up. Regular immunoglobulin replacement treatment reduced the incidence of invasive infections. Affected patients developed chronic lung disease over time (47% after 40 years of follow-up) in the presence of chronic sinusitis (84%). Malignancies were documented in a minority of cases (3.7%). Overall survival for affected patients was significantly reduced when compared with that for the healthy male Italian population, and it further deteriorated in the presence of chronic lung disease. Conclusions This is the first detailed long-term follow-up study for patients with XLA, revealing that although immunoglobulin replacement treatment reduces the incidence of invasive infections, it does not appear to influence the development of chronic lung disease. The overall survival of affected patients is reduced. Further studies are warranted to improve patients' clinical management and increase awareness among physicians.

Published
2020

34. Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

Author

Cristina Cifaldi, Immacolata Brigida, Federica Barzaghi, Matteo Zoccolillo, Valentina Ferradini, Davide Petricone, Maria Pia Cicalese, Dejan Lazarevic, Davide Cittaro, Maryam Omrani, Enrico Attardi, Francesca Conti, Alessia Scarselli, Maria Chiriaco, Silvia Di Cesare, Francesco Licciardi, Montin Davide, Francesca Ferrua, Clementina Canessa, Claudio Pignata, Silvia Giliani, Simona Ferrari, Georgia Fousteri, Graziano Barera, Pietro Merli, Paolo Palma, Simone Cesaro, Marco Gattorno, Antonio Trizzino, Viviana Moschese, Loredana Chini, Anna Villa, Chiara Azzari, Andrea Finocchi, Franco Locatelli, Paolo Rossi, Federica Sangiuolo, Alessandro Aiuti, Caterina Cancrini, Gigliola Di Matteo, Cifaldi, Cristina, Brigida, Immacolata, Barzaghi, Federica, Zoccolillo, Matteo, Ferradini, Valentina, Petricone, Davide, Cicalese, MARIA PIA, Lazarevic, Dejan, Cittaro, Davide, Omrani, Maryam, Attardi, Enrico, Conti, Francesca, Scarselli, Alessia, Chiriaco, Maria, Di Cesare, Silvia, Licciardi, Francesco, Davide, Montin, Ferrua, Francesca, Canessa, Clementina, Pignata, Claudio, Giliani, Silvia, Ferrari, Simona, Fousteri, Georgia, Barera, Graziano, Merli, Pietro, Palma, Paolo, Cesaro, Simone, Gattorno, Marco, Trizzino, Antonio, Moschese, Viviana, Chini, Loredana, Villa, Anna, Azzari, Chiara, Finocchi, Andrea, Locatelli, Franco, Rossi, Paolo, Sangiuolo, Federica, Aiuti, Alessandro, Cancrini and Gigliola Di Matteo, Caterina, Cifaldi, C., Brigida, I., Barzaghi, F., Zoccolillo, M., Ferradini, V., Petricone, D., Cicalese, M. P., Lazarevic, D., Cittaro, D., Omrani, M., Attardi, E., Conti, F., Scarselli, A., Chiriaco, M., Di Cesare, S., Licciardi, F., Montin, D., Ferrua, F., Canessa, C., Pignata, C., Giliani, S., Ferrari, S., Fousteri, G., Barera, G., Merli, P., Palma, P., Cesaro, S., Gattorno, M., Trizzino, A., Moschese, V., Chini, L., Villa, A., Azzari, C., Finocchi, A., Locatelli, F., Rossi, P., Sangiuolo, F., Aiuti, A., Cancrini, C., and Di Matteo, G.

Subjects
Haloplex, Ion Torrent, Next Generation Sequencing, gene panels, primary immunodeficiencies, Adolescent, Child, Child, Preschool, Female, Genetic Predisposition to Disease, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Infant, Infant, Newborn, Italy, Male, Phenotype, Primary Immunodeficiency Diseases, 0301 basic medicine, Gene panel, Primary immunodeficiencies, Candidate gene, 0302 clinical medicine, Targeted ngs, NGS, primary immunodeficiencies, child, genetic, Medicine, Immunology and Allergy, Technology Report, Exome, primary immunodeficiencies, Next Generation Sequencing, gene panels, Ion Torrent, Haloplex, lcsh:Immunologic diseases. Allergy, Immunology, Computational biology, DNA sequencing, 03 medical and health sciences, Preschool, Gene, Settore MED/38 - Pediatria Generale e Specialistica, business.industry, Correction, Ion semiconductor sequencing, Newborn, 030104 developmental biology, lcsh:RC581-607, business, Gene Discovery, 030215 immunology
Abstract

Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic immune disorders. While some PIDs can manifest with more than one phenotype, signs, and symptoms of various PIDs overlap considerably. Recently, novel defects in immune-related genes and additional variants in previously reported genes responsible for PIDs have been successfully identified by Next Generation Sequencing (NGS), allowing the recognition of a broad spectrum of disorders. Objective: To evaluate the strength and weakness of targeted NGS sequencing using custom-made Ion Torrent and Haloplex (Agilent) panels for diagnostics and research purposes. Methods: Five different panels including known and candidate genes were used to screen 105 patients with distinct PID features divided in three main PID categories: T cell defects, Humoral defects and Other PIDs. The Ion Torrent sequencing platform was used in 73 patients. Among these, 18 selected patients without a molecular diagnosis and 32 additional patients were analyzed by Haloplex enrichment technology. Results: The complementary use of the two custom-made targeted sequencing approaches allowed the identification of causative variants in 28.6% (n = 30) of patients. Twenty-two out of 73 (34.6%) patients were diagnosed by Ion Torrent. In this group 20 were included in the SCID/CID category. Eight out of 50 (16%) patients were diagnosed by Haloplex workflow. Ion Torrent method was highly successful for those cases with well-defined phenotypes for immunological and clinical presentation. The Haloplex approach was able to diagnose 4 SCID/CID patients and 4 additional patients with complex and extended phenotypes, embracing all three PID categories in which this approach was more efficient. Both technologies showed good gene coverage. Conclusions: NGS technology represents a powerful approach in the complex field of rare disorders but its different application should be weighted. A relatively small NGS target panel can be successfully applied for a robust diagnostic suspicion, while when the spectrum of clinical phenotypes overlaps more than one PID an in-depth NGS analysis is required, including also whole exome/genome sequencing to identify the causative gene.

Published
2019

35. Follow-up and outcome of symptomatic partial or absolute IgA deficiency in children

Author

Andrea Pession, Emilia Cirillo, Gigliola Di Matteo, Fernando Specchia, Simona Ferrari, Vera Gallo, Mayla Sgrulletti, Claudio Pignata, Viviana Moschese, Loredana Chini, Simona Graziani, Silvia Di Cesare, Moschese, V, Chini, L, Graziani, S, Sgrulletti, M, Gallo, V, Di Matteo, G, Ferrari, S, Di Cesare, S, Cirillo, E, Pession, A, Pignata, C, and Specchia, F.

Subjects
Male, medicine.medical_specialty, Allergy, Antibody deficiency, Primary immunodeficiency, Recurrent respiratory infections, TNFRSF13B, Adolescent, Child, Child, Preschool, Female, Follow-Up Studies, Humans, IgA Deficiency, Immunoglobulin A, Mutation, Prevalence, Transmembrane Activator and CAML Interactor Protein, Serum iga, Selective IgA deficiency, medicine.disease_cause, Pediatric immunology, Gastroenterology, Recurrent respiratory infection, Autoimmunity, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Internal medicine, medicine, IgA deficiency, 030212 general & internal medicine, Preschool, Settore MED/38 - Pediatria Generale e Specialistica, business.industry, medicine.disease, Lower incidence, Pediatrics, Perinatology and Child Health, business
Abstract

Selective IgA deficiency is defined as absolute or partial when serum IgA level is 7 mg/dl or 2 SD below normal for age, respectively. Few data are available on partial selective IgA deficiency, as probably most children with low serum IgA are seldom referred to a specialist clinic in common pediatric practice. The aim of our study was to better define the profile of both symptomatic forms and their clinical outcome in a pediatric immunology setting. Thus, clinical and immunological data from 103 symptomatic patients with selective IgA deficiency (53 absolute and 50 partial), 4-18 years of age, were collected at diagnosis and 80 patients (44 absolute and 36 partial) were monitored for a mean period of 5 years. Also, the prevalence of TNFRSF13B mutations has been assessed in 56 patients. The most common clinical features were infections (86/103; 83%), allergy (39/103; 38%), and autoimmunity (13/103; 13%). No significative differences were observed between absolute and partial selective IgA deficiency patients. However, a significative difference in the rate of IgA normalization between partial and absolute selective IgA deficiency patients (33 vs 9%, p = 0.01) was detected. Furthermore, a lower incidence of infections was associated to a normalization reversal compared to a final absolute or partial defect status (12 vs 53 and 64% respectively, p 0.01).Conclusions: Regardless of a diagnosis of absolute or partial defect, monitoring of symptomatic patients with selective IgA deficiency is recommended overtime for prompt identification and treatment of associated diseases. Further, diagnostic workup protocols should be revisited in children with IgA deficiency. What is Known: ● Selective IgA Deficiency is the most common primary immunodeficiency and is usually asymptomatic. ● Symptomatic pediatric patients with selective IgA deficiency mostly suffer with respiratory and gastrointestinal infections. What is New: ● Symptomatic children with partial IgA defect may have similar clinical, immunological, and genetic features than symptomatic children with absolute IgA deficiency. ● Symptomatic children with partial IgA deficiency deserve accurate monitoring for associated diseases as per children with absolute IgA deficiency.

Published
2019

36. Early molecular biomarkers predicting the evolution of allergic rhinitis and its comorbidities: A longitudinal multicenter study of a patient cohort

Author

Giovanna De Castro, Paolo Maria Matricardi, Ekaterina Potapova, Pasquale Comberiati, Ifigenia Sfika, Valentina Panetta, Giampaolo Ricci, Salvatore Tripodi, Anna Maria Zicari, Giulia Brindisi, Simone Pelosi, Viviana Moschese, Arianna Giannetti, Roberto Bernardini, Carla Mastrorilli, Francesca Cipriani, Carlo Caffarelli, Andrea Di Rienzo Businco, Michele Miraglia Del Giudice, Serena Perna, Iride Dello Iacono, Rosa Cervone, Marcella Gallucci, Valeria Villella, Antonella Casani, Elena Varin, Loredana Chini, Arianna Dondi, Cipriani, F., Tripodi, S., Panetta, V., Perna, S., Potapova, E., Dondi, A., Bernardini, R., Caffarelli, C., Casani, A., Cervone, R., Chini, L., Comberiati, P., De Castro, G., Miraglia Del Giudice, M., Dello Iacono, I., Di Rienzo Businco, A., Gallucci, M., Giannetti, A., Mastrorilli, C., Moschese, V., Pelosi, S., Sfika, I., Varin, E., Villella, V., Zicari, A. M., Brindisi, G., Ricci, G., Matricardi, P. M., Cipriani, Francesca, Tripodi, Salvatore, Panetta, Valentina, Perna, Serena, Potapova, Ekaterina, Dondi, Arianna, Bernardini, Roberto, Caffarelli, Carlo, Casani, Antonella, Cervone, Rosa, Chini, Loredana, Comberiati, Pasquale, De Castro, Giovanna, Miraglia Del Giudice, Michele, Dello Iacono, Iride, Di Rienzo Businco, Andrea, Gallucci, Marcella, Giannetti, Arianna, Mastrorilli, Carla, Moschese, Viviana, Pelosi, Simone, Sfika, Ifigenia, Varin, Elena, Villella, Valeria, Zicari, Anna Maria, Brindisi, Giulia, Ricci, Giampaolo, and Matricardi, Paolo Maria

Subjects
Male, Longitudinal study, Pru p 3, Longitudinal Studie, Immunoglobulin E, medicine.disease_cause, Atopy, Allergen, Risk Factors, Surveys and Questionnaires, Prevalence, Immunology and Allergy, Longitudinal Studies, Prospective Studies, skin and connective tissue diseases, Child, Sensitization, Rhinitis, biology, Skin Test, longitudinal study, Bet v 1, IgE, Phl p 1, Phl p 5, allergic rhinitis, asthma, biomarkers, children, comorbidities, pollen, prediction, Adolescent, Allergens, Asthma, Biomarkers, Disease Progression, Female, Follow-Up Studies, Humans, Italy, Rhinitis, Allergic, Skin Tests, medicine.anatomical_structure, Cohort, allergic rhiniti, Human, medicine.medical_specialty, comorbiditie, Immunology, Follow-Up Studie, Allergic, Oral allergy syndrome, Internal medicine, medicine, Settore MED/38 - Pediatria Generale e Specialistica, business.industry, Risk Factor, fungi, Biomarker, medicine.disease, body regions, Prospective Studie, Pediatrics, Perinatology and Child Health, biology.protein, business
Abstract

Background: Pollen-related seasonal allergic rhinoconjunctivitis (SAR) is a very frequent pediatric disease in Westernized countries. Risk factors and disease phenotypes have been thoroughly examined in several cross-sectional studies. By contrast, only a few studies have examined disease evolution in patient cohorts. We investigated predictive biomarkers of disease evolution in a large cohort of children with SAR. Methods: During 2015-2017 (follow-up), we re-examined 401 patients from those enrolled in 2009-2011 (baseline) by the “Panallergens in Pediatrics” study, a large multicenter survey of Italian children with SAR. Information on clinical history (standard questionnaire, AllergyCARD®; TPS, Italy) and skin prick tests for inhalant and foods extracts (ALK-Abelló, Hørsholm, Denmark) was acquired as at baseline visit. Evolution in clinical and sensitization data of patients was analyzed over time, as well as their association with the main baseline characteristics and atopy risk factors. Results: The average age of participants was 10.4±3.4years at baseline and 16.2±3.6years at follow-up. SAR persisted in 93.3% of patients at follow-up and became more frequently associated with asthma (from 36.7% at baseline to 48.6% at follow-up) and oral allergy syndrome (OAS, from 23.4% to 37.7%). Compared to baseline, the prevalence of skin sensitization to some pollens (Phleum pratense, Corylus avellana, Platanus acerifolia, Artemisia vulgaris) and vegetables (hazelnut, wheat, and apple) significantly decreased at follow-up. Earlier onset of SAR and polysensitization at baseline were associated with incident asthma at follow-up. The presence at baseline of serum IgE to the following allergen molecules was identified as biomarkers of clinical evolution: (a) Phl p 1, for persistence of SAR; (b) Phl p 5, for persistence of both rhinitis and asthma; (c) Pru p 3, for new onset of asthma; (d) Bet v 1, for persistence of OAS. Conclusions: Seasonal allergic rhinoconjunctivitis is clinically heterogeneous in its evolution from childhood to adolescence. The detection of serum IgE to specific molecules (Phl p 1, Phl p 5, Bet v 1, Pru p 3) may be useful as biomarkers to predict SAR persistence and future onset of comorbidities, such as asthma and/or OAS.

Published
2018

37. Diagnostic relevance of IgE sensitization profiles to eight recombinant Phleum pratense molecules

Author

Giuseppe Pingitore, Nunzia Maiello, Francesco Macrì, Mario Plebani, Pasquale Comberiati, Salvatore Tripodi, Francesca Cipriani, A Di Rienzo Businco, Valentina Panetta, Viviana Moschese, Maria Francesca Patria, Carla Mastrorilli, Diego Faggian, Tullio Frediani, P M Matricardi, Simone Frediani, M. Miraglia Del Giudice, Carlo Caffarelli, Mauro Calvani, Arianna Dondi, Diego Peroni, Umberto Pelosi, F. Paravati, C Lambiase, Mariangela Tosca, Maria Carmen Verga, Sandra Lucarelli, Loredana Chini, Serena Perna, I Dello Iacono, Roberto Bernardini, C. Povesi Dascola, Annamaria Bianchi, Riccardo Asero, Elena Varin, Ifigenia Sfika, Giampaolo Ricci, Cipriani, F., Mastrorilli, C., Tripodi, S., Ricci, G., Perna, S., Panetta, V., Asero, R., Dondi, A., Bianchi, A., Maiello, N., Miraglia del Giudice, M., Frediani, T., Macrì, F., Lucarelli, S., Dello Iacono, I., Patria, M.F., Varin, E., Peroni, D., Chini, L., Moschese, V., Bernardini, R., Pingitore, G., Pelosi, U., Tosca, M., Paravati, F., Sfika, I., Businco, A. Di Rienzo, Povesi Dascola, C., Comberiati, P., Frediani, S., Lambiase, C., Verga, M.C., Faggian, D., Plebani, M., Calvani, M., Caffarelli, C., Matricardi, P.M., Macrã¬, F., Patria, M. F., Verga, M. C., and Matricardi, P. M.

Subjects
Male, Allergy, grass pollen, Immunoglobulin E, Airborne allergen, component-resolved diagnostics, Atopy, 0302 clinical medicine, allergy, children, IgE sensitization profiles, Immunology and Allergy, Immunology, 030212 general & internal medicine, Child, Sensitization, Rhinitis, biology, Settore MED/38, Recombinant Proteins, Phleum pratense, medicine.anatomical_structure, Italy, Child, Preschool, Female, Adolescent, IgE sensitization profile, Phleum, 03 medical and health sciences, Allergic, Oral allergy syndrome, medicine, Humans, Preschool, Asthma, Settore MED/38 - Pediatria Generale e Specialistica, Seasonal, business.industry, Component-resolved diagnostic, Rhinitis, Allergic, Seasonal, Allergens, medicine.disease, biology.organism_classification, Cross-Sectional Studies, 030228 respiratory system, biology.protein, business, Biomarkers
Abstract

Background Grass pollen–related seasonal allergic rhinoconjunctivitis (SARg) is clinically heterogeneous in severity, comorbidities and response to treatment. The component-resolved diagnostics disclosed also a high heterogeneity at molecular level. Our study aimed at analyzing the characteristics of the IgE sensitization to Phleum pratense molecules and investigating the diagnostic relevance of such molecules in childhood. Methods We examined 1120 children (age 4–18y) with SARg. Standardized questionnaires on atopy were acquired through informatics platform (AllergyCARD™). Skin prick tests were performed with pollen extracts. Serum IgE to airborne allergens and eight Phleum pratense molecules (rPhl p 1, rPhl p 2, rPhl p 4, rPhl p 5b, rPhl p 6, rPhl p 7, rPhl p 11, rPhl p 12) were tested by ImmunoCAP FEIA. Results The analysis of IgE responses against eight Phleum pratense molecules showed 87profiles. According to the number of molecules recognized by IgE, the more complex profiles were characterized by higher serum total IgE, higher grass-specific serum IgE and higher number and degree of sensitization to pollens. The most frequent IgE sensitization profile was the monomolecular Phl p 1. Sensitization to Phl p 7 was a reliable biomarker of asthma, whereas Phl p 12 of oral allergy syndrome. Sensitization to Phl p 7 was associated with a higher severity of SAR, and complex profiles were associated with longer disease duration. Conclusions In a large pediatric population, the complexity of IgE sensitization profiles against Phleum pratense molecules is related to high atopic features although useless for predicting the clinical severity. The detection of serum IgE to Phl p 1, Phl p 7 and Phl p 12 can be used as clinical biomarkers of SARg and comorbidities. Further studies in different areas are required to test the impact of different IgE molecular profiles on AIT response. This article is protected by copyright. All rights reserved.

Published
2018

38. Endotypes of pollen-food syndrome in children with seasonal allergic rhinoconjunctivitis: a molecular classification

Author

Riccardo Asero, Diego Faggian, Roberta Olcese, Loredana Chini, Maria Francesca Patria, Francesco Macrì, Alessandro Travaglini, Serena Perna, Sandra Lucarelli, Carla Mastrorilli, Carlo Caffarelli, M. Miraglia Del Giudice, Viviana Moschese, Umberto Pelosi, Francesca Cipriani, Nunzia Maiello, Mario Plebani, Simone Frediani, A. Di Rienzo-Businco, Giuseppe Pingitore, Roberto Bernardini, I Dello Iacono, Elena Varin, Ifigenia Sfika, Annamaria Bianchi, Giampaolo Ricci, Salvatore Tripodi, Pasquale Comberiati, Anastasia Cirisano, C. Pistoletti, C. Povesi Dascola, Mauro Calvani, Matteo Moretti, Maria Carmen Verga, Tullio Frediani, P M Matricardi, Arianna Dondi, Diego Peroni, Paolo Giordani, Mastrorilli, C., Tripodi, S., Caffarelli, C., Perna, S., Di Rienzo Businco, A., Sfika, I., Asero, R., Dondi, Arianna, Bianchi, A., Povesi Dascola, C., Ricci, Giampaolo, Cipriani, Francesca, Maiello, N., Miraglia Del Giudice, M., Frediani, T., Frediani, S., Macrì, F., Pistoletti, C., Dello Iacono, I., Patria, M. F., Varin, E., Peroni, D., Comberiati, P., Chini, L., Moschese, V., Lucarelli, S., Bernardini, R., Pingitore, G., Pelosi, U., Olcese, R., Moretti, M., Cirisano, A., Faggian, D., Travaglini, A., Plebani, M., Verga, M. C., Calvani, M., Giordani, P., Matricardi, P. M., Dondi, A., Ricci, G., Cipriani, F., Maiello, Nunzia, and MIRAGLIA DEL GIUDICE, Michele

Subjects
Male, pollen-food syndrome, Allergy, Comorbidity, Immunoglobulin E, 0302 clinical medicine, Risk Factors, Immunology and Allergy, 030212 general & internal medicine, Age of Onset, endotype, Child, Prospective cohort study, Sensitization, Conjunctivitis, Allergic, education.field_of_study, panallergens, biology, Syndrome, medicine.anatomical_structure, Italy, classification, endotypes, Child, Preschool, Population Surveillance, panallergen, Pollen, Female, Seasons, oral allergy syndrome, Food Hypersensitivity, Adolescent, Population, Immunology, pollen food syndrome, 03 medical and health sciences, Oral allergy syndrome, children, medicine, cluster analysi, Humans, molecules, education, neoplasms, Skin Tests, Settore MED/38 - Pediatria Generale e Specialistica, molecule, business.industry, allergic rhinoconjunctiviti, Rhinitis, Allergic, Seasonal, allergic rhinoconjunctivitis, Allergens, medicine.disease, cluster analysis, 030228 respiratory system, Food, biology.protein, Age of onset, business
Abstract

Background Pollen-food syndrome (PFS) is heterogeneous with regard to triggers, severity, natural history, comorbidities, and response to treatment. Our study aimed to classify different endotypes of PFS based on IgE sensitization to panallergens. Methods We examined 1271 Italian children (age 4-18 years) with seasonal allergic rhinoconjunctivitis (SAR). Foods triggering PFS were acquired by questionnaire. Skin prick tests were performed with commercial pollen extracts. IgE to panallergens Phl p 12 (profilin), Bet v 1 (PR-10), and Pru p 3 (nsLTP) were tested by ImmunoCAP FEIA. An unsupervised hierarchical agglomerative clustering method was applied within PFS population. Results PFS was observed in 300/1271 children (24%). Cluster analysis identified five PFS endotypes linked to panallergen IgE sensitization: (i) cosensitization to ≥2 panallergens ('multi-panallergen PFS'); (ii-iv) sensitization to either profilin, or nsLTP, or PR-10 ('mono-panallergen PFS'); (v) no sensitization to panallergens ('no-panallergen PFS'). These endotypes showed peculiar characteristics: (i) 'multi-panallergen PFS': severe disease with frequent allergic comorbidities and multiple offending foods; (ii) 'profilin PFS': oral allergy syndrome (OAS) triggered by Cucurbitaceae; (iii) 'LTP PFS': living in Southern Italy, OAS triggered by hazelnut and peanut; (iv) 'PR-10 PFS': OAS triggered by Rosaceae; and (v) 'no-panallergen PFS': mild disease and OAS triggered by kiwifruit. Conclusions In a Mediterranean country characterized by multiple pollen exposures, PFS is a complex and frequent complication of childhood SAR, with five distinct endotypes marked by peculiar profiles of IgE sensitization to panallergens. Prospective studies in cohorts of patients with PFS are now required to test whether this novel classification may be useful for diagnostic and therapeutic purposes in the clinical practice.

Published
2016

39. Consensus of the Italian Primary Immunodeficiency Network on the use and interpretation of genetic testing for the diagnosis of inborn errors of immunity (IEI).

Author

Giardino G, Di Matteo G, Giliani S, Ferrari S, Lougaris V, Badolato R, Conti F, Romano R, Cicalese MP, Ricci S, Barzaghi F, Marzollo A, Cifaldi C, Montin D, Lodi L, Cirillo E, Martire B, Trizzino A, Sgrulletti M, Moschese V, Comegna M, Castaldo G, Tommasini A, Azzari C, Cancrini C, Aiuti A, and Pignata C

Abstract

Background: Inborn errors of immunity (IEIs) are more than 500 different rare congenital disorders of the immune system characterized by susceptibility to infections and immune dysregulation. The significant overlap of the clinical features among the different forms may lead to diagnostic delay. High throughput sequencing techniques may allow a timely genetic definition. Guidelines for the use and the interpretation of genetic testing produced by the American College of Medical Genetics and Genomics (ACMG) and the European Society of Human Genetics (ESHG) do not cover specificities for the application to IEIs., Objective: The aim of this consensus study is to define the best approach to genetic testing for IEIs., Methods: A panel of experts in the context of the Italian Primary Immunodeficiency Network (IPINet) composed a list of statements that were evaluated using Delphi method., Results: The experts recommend that genetic testing for IEIs should be offered to selected patients with warning signs for IEIs and highlight the crucial role of thorough phenotyping and functional tests for the conclusive diagnosis of IEI. Comprehensive educational programs targeted to health care professionals and the public should be developed to increase IEIs awareness and reduce the diagnostic delay. Ethical issues should be pondered over the diagnostic advantages of genetic tests requested for diagnostic purposes., Conclusion: Adherence to the guidelines on the use and interpretation of genetic testing for the diagnosis of IEIs should help limiting the inappropriate use of these techniques and reduce the risk of misdiagnosis and apprehension for inconclusive genetic results., (Copyright © 2024. Published by Elsevier Inc.)

Published
2024
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40. Vaccinations in children of non-European origin: The Vax4globe survey.

Author

Moschese V, Graziani S, Spadea A, D'Amore M, Mosco R, Ciampini S, Di Giorgio N, Arcano S, Ceccarelli S, Chianca M, Piccinini S, Polito A, Porcari M, Puliafito P, Silenzi R, Del Duca E, Pignata C, and Miraglia Del Giudice M

Abstract

Background: An equitable immunization coverage to "leave no one behind" is one of the World Health Organization Sustainable Development Goals. However, disparities in vaccination coverage exist. The present study aims to investigate vaccine attitude of non-European parents living in Italy and those factors affecting vaccine uptake and equity., Methods: A cross sectional survey, named Vax4globe, on knowledge and immunization compliance in childhood and pregnancy of non-European (non-EU) parents was carried out among general pediatrician and Vaccine Centers located in Lazio Region, between February and July 2023. Logistic regression models were used in univariate and multivariate analyses to examine the socio-demographic parameters mainly associated with the vaccination status., Results: A total of 310 parent/child pair were included in the study. Most children were born in Italy (262/310; 86.5 %), while while 40/310 (13.2 %) migrated from country of origin and 1/310 (0.3 %) was adopted. Mandatory vaccines were perfomed by 270/306 (88 %) children, however flu, papillomavirus and meningococcal group B were vaccines most commonly refused by 208/289 (72 %), 11/36 (31 %) and 9/36 (25 %) parents, respectively. A lower educational degree of parents (p = 0.040) and the migration status of children (p < 0.001) were associated to incomplete or missed immunization. As to maternal immunization 164/310 (53 %) non-EU women decided not to vaccinate and received less information (155/297;52 %) compared to childhood immunization (268/305; 88 %) (p < 0.0001). The educational degree (p = 0.017), the origin from non-EU European countries (p = 0.008) and the age 25-40 years (p = 0.036) and > 40 years (p = 0.007) were associated to lack of immunization during pregnancy. Finally, while 279/310 (90 %) parents were vaccinated against Sars-CoV-2, only 60/199 (30 %) children had been immunized with this vaccine mainly due to the non-mandatory vaccine request at pediatric age and to the doubts about its value according to 39/127 (31 %) and 29/127 (23 %) parents, respectively., Conclusion: Our study highlights the need for targeted strategies to improve vaccine uptake both in childhood and in pregnancy among non-EU individuals living in Italy. Further, to achieve vaccination equity the role of institutions and healthcare personnel is pivotal to overcome vaccine hesitancy., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024. Published by Elsevier Ltd.)

Published
2024
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41. Towards personalized vaccines.

Author

Montin D, Santilli V, Beni A, Costagliola G, Martire B, Mastrototaro MF, Ottaviano G, Rizzo C, Sgrulletti M, Miraglia Del Giudice M, and Moschese V

Subjects
Humans, Vaccination, Vaccine Development, Genomics methods, Vaccinology methods, Animals, Precision Medicine methods, Vaccines immunology
Abstract

The emergence of vaccinomics and system vaccinology represents a transformative shift in immunization strategies, advocating for personalized vaccines tailored to individual genetic and immunological profiles. Integrating insights from genomics, transcriptomics, proteomics, and immunology, personalized vaccines offer the promise of enhanced efficacy and safety, revolutionizing the field of vaccinology. However, the development of personalized vaccines presents multifaceted challenges, including technical, ethical, economic, and regulatory considerations. Addressing these challenges is essential to ensure equitable access and safety of personalized vaccination strategies. Despite these hurdles, the potential of personalized vaccines to optimize responses and mitigate disease burden underscores the significance of ongoing research and collaboration in advancing precision medicine in immunization., 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 © 2024 Montin, Santilli, Beni, Costagliola, Martire, Mastrototaro, Ottaviano, Rizzo, Sgrulletti, Miraglia Del Giudice and Moschese.)

Published
2024
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42. Inverse association between the molecular spreading of IgE to grass pollen and the IgE response to Dermatophagoides pteronyssinus among children with seasonal allergic rhinitis.

Author

Brindisi G, Cipriani F, Potapova E, Tripodi S, Panetta V, Bernardini R, Caffarelli C, Casani A, Cervone R, Chini L, Comberiati P, Castro G, Del Giudice MM, Iacono ID, Businco ADR, Dramburg S, Gallucci M, Giannetti A, Moschese V, Sfika I, Varin E, Ricci G, Reese G, Zicari AM, and Matricardi PM

Abstract

Background: Seasonal allergic rhinoconjunctivitis (SAR) is a worldwide health problem, especially in Westernized countries. Previous studies of the "Panallergens in Pediatrics" (PAN-PED) cohort found that molecular spreading (ie, the progressive increase in serum specific IgE antibody levels) of the IgE response to the grass pollen, Phleum pratense , molecules is directly associated with polysensitization to pollen in general.The research question is aimed at verifying whether this association can also be detected for non-pollen allergens, specifically Dermatophagoides pteronyssinnus ( D.pt ), to better understand the relationship between a perennial allergen ( D.pt ) and a seasonal allergen ( Phleum pratense ).To this end, our first objective was to analyze the biobank of the PAN-PED cohort serum by measuring the IgE levels to D.pt and its major recombinant molecules (Der p1, Der p2, Der p23); subsequently we investigated their correlation towards Phleum pratense IgE response, studying also the relationship between the molecular spreading of these 2 different allergens., Methods: Among 1120 patients positive to Phleum pratense , 638 were also sensitized to D.pt . Patients underwent skin prick tests (SPT) for inhalant extracts, and their serum was tested for total IgE (tIgE), and sIgE to pollen and perennial allergens. Considering the molecular allergen detection through the component resolved diagnosis (CRD), out of 638 patients, 146 were further investigated by performing IgE tests of the 3 major D.pt. molecules: Der p1, Der p2, and Der p23., Results: We found that a broader molecular response to Phleum pratense molecules, assessed by CRD, was associated with higher tIgE levels, polysensitization to pollens, and higher IgE levels to pollens, but also to lower IgE levels to D.pt and lower degree of sensitization to rDer p1, r Der p2, and rDer p23. In a multivariate linear model, the number of Phleum pratense molecules recognized by IgE was still inversely associated with the IgE level to D.pt extract., Conclusions: The main finding of this study was the detection of an inverse association, never described in the literature, between the molecular spreading of the IgE response to Phleum pratense and the IgE response to D.pt . This led us to speculate on the etiopathogenetic hypothesis according to which, among the majority of pollen allergic patients, a strong and molecularly diversified IgE response may be limited to pollen allergens and may be preventing or contrasting the development of an equally strong and diversified IgE sensitization to D.pt molecules. The biological mechanisms underlying this phenomenon deserve to be investigated., Competing Interests: Dr. P. Matricardi reports grants and personal fees from Euroimmun AG; grants and personal fees from Thermo Fisher Scientific, personal fees from Hycor Biomedical Inc, outside the submitted work. Dr S. Tripodi is cofounder of TPS Production. All other authors declared no conflicts of interest., (© 2024 The Authors.)

Published
2024
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43. Vaccines and allergy: Back to the right places.

Author

Moschese V, Montin D, Ottaviano G, Sgrulletti M, Beni A, Costagliola G, Sangerardi M, Santilli V, Miraglia Del Giudice M, Rizzo C, and Martire B

Subjects
Humans, Child, Anaphylaxis prevention & control, Practice Guidelines as Topic, Vaccines adverse effects, Vaccines administration & dosage, Vaccination adverse effects, Hypersensitivity
Abstract

Hypersensitivity reactions represent one of the most common causes of hesitancy for adherence to national vaccination programs. The majority of hypersensitivity reactions after vaccination are mild, and anaphylaxis is reported to be rare, although it remains challenging to estimate the frequency attributed to each single vaccine, either because of the lower number of administered doses of less common vaccines, or the administration of simultaneous vaccine in most of the vaccination programs. Although literature remains scattered, international consensus guides clinicians in identifying patients who might need the administration of vaccines in protected environments due to demonstrated hypersensitivity to vaccine components or adjuvants. Here we provide the current guidance on hypersensitivity reactions to vaccines and on vaccination of children with allergy disorders., (© 2024 European Academy of Allergy and Clinical Immunology and John Wiley & Sons Ltd.)

Published
2024
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44. 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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45. IgE to cyclophilins in pollen-allergic children: Epidemiologic, clinical, and diagnostic relevance of a neglected panallergen.

Author

Matricardi PM, Potapova E, Panetta V, Lidholm J, Mattsson L, Scala E, Bernardini R, Caffarelli C, Casani A, Cervone R, Chini L, Comberiati P, De Castro G, Miraglia Del Giudice M, Dello Iacono I, Di Rienzo Businco A, Gallucci M, Giannetti A, Moschese V, Varin E, Bianchi A, Calvani M, Frediani T, Macrì F, Maiello N, Paravati F, Pelosi U, Peroni D, Pingitore G, Tosca M, Zicari AM, Ricci G, Asero R, and Tripodi S

Subjects
Humans, Child, Male, Female, Adolescent, Child, Preschool, Antigens, Plant immunology, Italy epidemiology, Prevalence, Immunoglobulin E immunology, Immunoglobulin E blood, Rhinitis, Allergic, Seasonal immunology, Rhinitis, Allergic, Seasonal epidemiology, Rhinitis, Allergic, Seasonal diagnosis, Rhinitis, Allergic, Seasonal blood, Cyclophilins immunology, Allergens immunology, Pollen immunology
Abstract

Background: Cyclophilins are ubiquitous panallergens whose epidemiologic, diagnostic, and clinical relevance is largely unknown and whose sensitization is rarely examined in routine allergy practice., Objective: We investigated the epidemiologic, diagnostic, and clinical relevance of cyclophilins in seasonal allergic rhinitis and its comorbidities., Methods: We examined a random sample of 253 (25%) of 1263 Italian children with seasonal allergic rhinitis from the Panallergens in Pediatrics (PAN-PED) cohort with characterized disease phenotypes. Nested studies of sensitization prevalence, correlation, and allergen extract inhibition were performed in patients sensitized to birch pollen extract but lacking IgE to Bet v 1/2/4 (74/1263) or with highest serum level of IgE to Bet v 1 (26/1263); and in patients with sensitization to various extracts (ragweed, mugwort, pellitory, Plantago, and plane tree), but not to their respective major allergenic molecule, profilins, and polcalcins. IgE to cyclophilin was detected with recombinant Bet v 7, and extract inhibition tests were performed with the same rBet v 7., Results: IgE to rBet v 7 was detected in 43 (17%) of 253 patients. It was associated with asthma (P < .028) and oral allergy syndrome (P < .017) in univariate but not multivariate analysis adjusted for IgE to profilins (Phl p 12), PR-10s (Bet v 1), and lipid transfer proteins (Pru p 3). IgE to rBet v 7 was also highly prevalent (47/74, 63%) among patients with unexplained sensitization to birch pollen extract. In patients with unexplained sensitization to ragweed, mugwort, pellitory, Plantago and plane tree pollen, the levels of IgE to those extracts correlated with the levels of IgE to rBet v 7, and they were also significantly inhibited by rBet v 7 (inhibition range 45%-74%)., Conclusions: IgE sensitization to cyclophilin is frequent in pollen-allergic patients living in temperate areas and can produce "false" positive outcomes in skin prick and IgE tests to pollen extracts. Molecular diagnostic guidelines should include this panallergen family., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Published
2024
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46. IgE to cross-reactive carbohydrate determinants (CCD) in childhood: Prevalence, risk factors, putative origins.

Author

Potapova E, Tripodi S, Panetta V, Dramburg S, Bernardini R, Caffarelli C, Casani A, Cervone R, Chini L, Comberiati P, De Castro G, Del Giudice MM, Dello Iacono I, Di Rienzo Businco A, Gallucci M, Giannetti A, Moschese V, Sfika I, Varin E, Asero R, Bianchi A, Calvani M, Frediani T, Macrì F, Maiello N, Paravati F, Pelosi U, Peroni D, Pingitore G, Tosca M, Zicari AM, Ricci G, Reese G, Grabenhenrich L, Icke K, Grübl A, Müller C, Zepp F, Schuster A, Wahn U, Lau S, Keil T, and Matricardi PM

Subjects
Adult, Humans, Child, Child, Preschool, Cohort Studies, Prevalence, Allergens, Carbohydrates, Risk Factors, Cross Reactions, Immunoglobulin E, Hypersensitivity
Abstract

Background: IgE antibodies to cross-reactive carbohydrate determinants (CCD) are usually clinically irrelevant but they can be a cause of false positive outcomes of allergen-specific IgE tests in vitro. Their prevalence and levels have been so far cross-sectionally examined among adult allergic patients and much less is known about their origins and relevance in childhood., Methods: We examined CCD with a cross-sectional approach in 1263 Italian pollen allergic children (Panallergen in Paediatrics, PAN-PED), as well as with a longitudinal approach in 612 German children (Multicenter Allergy Study, MAS), whose cutaneous and IgE sensitization profile to a broad panel of allergen extracts and molecules was already known. The presence and levels of IgE to CCD were examined in the sera of both cohorts using bromelain (MUXF3) as reagent and a novel chemiluminescence detection system, operating in a solid phase of fluorescently labelled and streptavidin-coated paramagnetic microparticles (NOVEOS, HYCOR, USA)., Results: IgE to CCD was found in 22% of the Italian pollen allergic children, mainly in association with an IgE response to grass pollen. Children with IgE to CCD had higher total IgE levels and were sensitized to more allergenic molecules of Phleum pratense than those with no IgE to CCD. Among participants of the German MAS birth cohort study, IgE to CCD emerged early in life (even at pre-school age), with IgE sensitization to group 1 and 4 allergen molecules of grasses, and almost invariably persisted over the full observation period., Conclusions: Our results contribute to dissect the immunological origins, onset, evolution and risk factors of CCD-sIgE response in childhood, and raise the hypothesis that group 1 and/or 4 allergen molecules of grass pollen are major inducers of these antibodies through an antigen-specific, T-B cell cognate interaction., (© 2024 The Authors. Clinical & Experimental Allergy published by John Wiley & Sons Ltd.)

Published
2024
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47. The Inborn Errors of Immunity-Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase.

Author

Coppola E, Sgrulletti M, Cortesi M, Romano R, Cirillo E, Giardino G, Dotta L, Cancrini C, Bruzzese D, Badolato R, Moschese V, and Pignata C

Subjects
Humans, Phenotype, Referral and Consultation, Italy, Delayed Diagnosis, Rare Diseases
Abstract

Purpose: Inborn errors of immunity (IEI) represent a heterogeneous group of rare genetically determined diseases. In some cases, patients present with complex or atypical phenotypes, not fulfilling the accepted diagnostic criteria for IEI and, thus, at high risk of misdiagnosis or diagnostic delay. This study aimed to validate a platform that, through the opinion of immunologist experts, improves the diagnostic process and the level of care of patients with atypical/complex IEI., Methods: Here, we describe the functioning of the IEI-Virtual Consultation System (VCS), an innovative platform created by the Italian Immunodeficiency Network (IPINet)., Results: In the validation phase, from January 2020 to June 2021, 68 cases were entered on the IEI-VCS platform. A final diagnosis was achieved in 35/68 cases (51%, 95% CI 38.7 to 64.2). In 22 out of 35 solved cases, the diagnosis was confirmed by genetic analysis. In 3/35 cases, a diagnosis of secondary immunodeficiency was made. In the remaining 10 cases, an unequivocal clinical and immunological diagnosis was obtained, even though not substantiated by genetic analysis., Conclusion: From our preliminary study, the VCS represents an innovative and useful system to improve the diagnostic process of patients with complex unsolved IEI disorders, with benefits both in terms of reduction of time of diagnosis and access to the required therapies. These results may help the functioning of other international platforms for the management of complex cases., (© 2024. The Author(s).)

Published
2024
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48. A 52-week multicenter retrospective real-world study on effectiveness and safety of dupilumab in children with atopic dermatitis aged from 6 to 11 years.

Author

Patruno C, Fabbrocini G, Lauletta G, Boccaletti V, Colonna C, Cavalli R, Neri I, Ortoncelli M, Schena D, Stingeni L, Hansel K, Piccolo V, Di Brizzi V, Potenza C, Tolino E, Bianchi L, Manti S, De Pasquale R, Di Lernia V, Caminiti L, Galli E, Coppo P, Chiricozzi A, De Simone C, Guerriero C, Amoruso FG, Provenzano E, Leonardi S, Licari A, Marseglia GL, Palermo A, Di Pillo S, Russo D, Moschese V, Patella V, Peduto T, Ferreli C, Zangari P, Veronese F, Berti SF, Gruber M, Pezzolo E, Termine S, Satta R, Dragoni F, Esposito M, Fargnoli MC, Chiodini P, Vallone Y, di Vico F, Picone V, and Napolitano M

Subjects
Humans, Child, Retrospective Studies, Double-Blind Method, Treatment Outcome, Severity of Illness Index, Dermatitis, Atopic drug therapy, Dermatitis, Atopic diagnosis
Abstract

Background: Dupilumab has been shown to be a safe and effective drug for the treatment of atopic dermatitis (AD) in children from 6 months to 11 years in randomized clinical trials. Aim: The aim of this real-life study was to determine the effectiveness in disease control and safety of dupilumab at W52 in moderate-to-severe AD children aged 6-11 years. Methods: All data were collected from 36 Italian dermatological or paediatric referral centres. Dupilumab was administered at label dosage with an induction dose of 300 mg on day 1 (D1), followed by 300 mg on D15 and 300 mg every 4 weeks (Q4W). Treatment effect was determined as overall disease severity, using EASI, P-NRS, S-NRS and c-DLQI at baseline, W16, W24, and W52. Ninety-six AD children diagnosed with moderate-to-severe AD and treated with dupilumab were enrolled. Results: Ninety-one (94.8%) patients completed the 52-week treatment period and were included in the study. A significant improvement in EASI score, P-NRS, S-NRS and c-DLQI was observed from baseline to weeks 16, 24 and 52. Conclusions: Our real-life data seem to confirm dupilumab effectiveness and safety in paediatric patients. Moreover, our experience highlighted that patients achieving clinical improvement at W16 preserved this condition over time.

Published
2023
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49. Vaccine hesitancy and knowledge regarding maternal immunization among reproductive age women in central Italy: a cross sectional study.

Author

Moschese V, De Angelis L, Capogna MV, Graziani S, Baglivo F, Pietropolli A, Miraglia Del Giudice M, and Rizzo C

Abstract

Background: Vaccination in pregnancy offers protection to the mother and the newborn. In Italy, influenza, pertussis, and COVID-19 vaccinations are recommended in pregnancy, but vaccination coverage is still far from the National Immunization Plan goals. We aimed to assess knowledge and attitude on maternal immunization in two groups of Italian women, in pregnancy and in reproductive age (non pregnant)., Methods: A cross sectional study on Italian childbearing age women gathering information on their knowledge on maternal immunization and attitudes to receiving influenza and pertussis vaccines in pregnancy was carried out at the University of Rome Tor Vergata, between September 2019 and February 2020. Logistic and multinomial regressions were chosen as statistical tests for our analysis., Results: 1,031 women participated in the survey by answering the questionnaire. Out of these, 553 (53.6%) women were pregnant, and 478 (46.4%) were in the reproductive age. 37% (204/553) of pregnant women and 41% (198/476) of non pregnant women are aware of the existence of an immunization plan for pregnant women in Italy. The group with age between 20 and 30, for both pregnant women and women in the reproductive age, has a better knowledge of vaccination in pregnancy. Working status is a variable associated with more awareness about vaccination during pregnancy only for pregnant women (OR = 2.34, p  < 0.00001). Educational status, trimester of pregnancy and knowledge on the topic are associated with vaccine hesitancy in our multivariate analysis for pregnant women. In the reproductive age group women who had a previous pregnancy are more likely to be hesitant towards vaccination in pregnancy, on the other hand the one with a higher knowledge and educational status are more likely to get vaccinated., Conclusions: The study highlights the persistent vaccine hesitancy among Italian women of reproductive age and pregnant women. Despite healthcare providers being identified as a reliable source of information, their recommendations alone are insufficient to overcome vaccine hesitancy. Factors such as employment status, educational level, pregnancy trimester, and knowledge about vaccinations during pregnancy influence vaccine hesitancy. Tailored educational interventions and communication campaigns targeting these areas can help reduce vaccine hesitancy and promote maternal immunization., 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., (© 2023 Moschese, De Angelis, Capogna, Graziani, Baglivo, Pietropolli, Miraglia Del Giudice, Rizzo and the Italian Society of Pediatric Allergology and Immunology (SIAIP) Vaccine Committee.)

Published
2023
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50. 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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