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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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9. 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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10. 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

11. 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

12. 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

15. 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

16. 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

17. 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

18. 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

19. 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

23. 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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27. 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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30. Pollen-induced allergic rhinitis in 1360 Italian children: comorbidities and determinants of severity

Author

DONDI, ARIANNA, RICCI, GIAMPAOLO, BELLINI, FEDERICA, Tripodi S, Panetta V, Asero R, Businco AD, Bianchi A, Carlucci A, 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 D, 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, Italian Pediatric Allergy Network, Dondi, A, Tripodi, S, Panetta, V, Asero, R, Businco, Ad, Bianchi, A, Carlucci, A, Ricci, G, Bellini, F, Maiello, N, MIRAGLIA DEL GIUDICE, Michele, Frediani, T, Sodano, S, Dello Iacono, I, Macrì, F, Massaccesi, V, Caffarelli, C, Rinaldi, L, Patria, Mf, Varin, E, Peroni, D, 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, 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 D, 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, Italian Pediatric Allergy Network (I-PAN)., Businco, A, Miraglia del Giudice, M, Patria, M, and Matricardi, P

Subjects
Male, Questionnaires, Allergy, Pediatrics, multiple pollen sydrome, multiple pollen syndrome, Breastfeeding, Comorbidity, Airborne allergen, Surveys and Questionnaires, Epidemiology, Prevalence, Immunology and Allergy, Outpatient clinic, Age of Onset, Child, Conjunctivitis, Allergic, Rhinitis, pan-allergens, profilin, asthma, children, allergic rhinitis, epidemiology, italy, allergic conjunctivitis, Environmental exposure, Humans, Disease Progression, Italy, Allergens, Antigens, Plant, Skin Tests, Pollen, Child, Preschool, Rhinitis, Allergic, Seasonal, Early Diagnosis, Female, Allergic conjunctivitis, panallergen, allergic rhiniti, medicine.medical_specialty, Immunology, Allergic, medicine, allergic conjunctiviti, Antigens, Preschool, Asthma, Settore MED/38 - Pediatria Generale e Specialistica, Seasonal, business.industry, Plant, medicine.disease, Conjunctivitis, pan-allergen, Pediatrics, Perinatology and Child Health, business
Abstract

BACKGROUND: Pollen-induced allergic rhinoconjunctivitis (AR) is highly prevalent and rapidly evolving during childhood. General practitioners may not be fully aware of the nature and severity of symptoms experienced by patients and might underestimate the prevalence of moderate or severe disease. Thus, the relevance of early diagnosis and intervention may be overlooked. OBJECTIVES: To investigate the severity of pollen-induced AR and its determinants in Italian children referred to allergy specialists and who had never received specific immunotherapy (SIT). METHODS: Children (age 4-18 yr) affected by pollen-induced AR who had never undergone SIT were recruited between May 2009 and June 2011 in 16 pediatric outpatient clinics in 14 Italian cities. Recruited children's parents answered standardized questionnaires on atopic diseases (International Study of Allergy and Asthma in Childhood, Allergic Rhinitis and its Impact on Asthma, Global Initiative for Asthma). The children underwent skin-prick test (SPT) with several airborne allergens and six food allergens. Information on socio-demographic factors, parental history of allergic diseases, education, perinatal events, breastfeeding, nutrition and environmental exposure in early life was collected through an informatics platform shared by the whole network of clinical centers (AllergyCARD™). RESULTS: Among the 1360 recruited patients (68% males, age 10.5 ± 3.4 yr), 695 (51%) had moderate-to-severe AR, 533 (39%) asthma, and 325 (23.9%) oral allergy syndrome (OAS). Reported onset of pollen-induced AR was on average at 5.3 ± 2.8 yr, and its mean duration from onset was 5.2 ± 3.3 yr. Only 6.2% of the patients were pollen-monosensitized, and 84.9% were sensitized to ≥3 pollens. A longer AR duration was significantly associated with moderate-to-severe AR symptoms (p 0.004), asthma (p 0.030), and OAS comorbidities (p < 0.001). CONCLUSIONS: This nationwide study may raise awareness of the severity of pollen-induced AR among Italian children who have never received pollen SIT. The strong association between pollen-induced AR duration and several markers of disease severity needs replication in longitudinal studies, while suggesting that countrywide initiatives for earlier diagnosis and intervention should be planned.

Published
2013

31. Effectiveness of immunoglobulin replacement therapy on clinical outcome in patients with primary antibody deficiencies: results from a multicenter prospective cohort study

Author

Quinti I, Soresina A, Guerra A, Rondelli R, Spadaro G, Agostini C, Milito C, Trombetta AC, Visentini M, Martini H, Plebani A, Fiorilli M, IPINet Investigators, De Mattia D, Martire B, Cardinale F, Ranieri G, Silvestri F, Masi M, Cossu F, Anastasio E, Schillirò G, Matucci A, Vultaggio A, Aricò M, Pietrogrande MC, Delle Piane RM, Panisi C, Cambiaghi G, Pignata C, Putti MC, Trizzino A, Bertolini P, Consolini R, Ugazio AG, Duse M, Iacobini M, Moschese V, Cancrini C, Finocchi A, Pesce AM, Cagliuso M, Conti V, Granata G, Mitrevski M, Cecere F, Tovo PA, Martino S, Montin D, Nespoli L, Marinoni M, Pellegrini FP, Cazzola G.A., PESSION, ANDREA, Quinti., I, Soresina, A., Guerra, A., Rondelli, R., Spadaro, Giuseppe, Agostini, C., Milito, C., Trombetta, A. C., Visentini, M., Martini, H., Plebani, A., Fiorilli, M., De Mattia, D., Martire, B., Cardinale, F., Ranieri, G., Silvestri, F., Masi, M., Pession, A., Cossu, F., Anastasio, E., Schillirò, G., Matucci, A., Vultaggio, A., Aricò, M., Pietrogrande, M. C., Delle Piane, R. M., Panisi, C., Cambiaghi, G., Pignata, Claudio, Putti, M. C., Trizzino, A., Bertolini, P., Consolini, R., Ugazio, A. G., Duse, M., Iacobini, M., Moschese, V., Cancrini, C., Finocchi, A., Pesce, A. M., Cagliuso, M., Conti, V., Granata, G., Mitrevski, M., Cecere, F., Tovo, P. A., Martino, S., Montin, D., Nespoli, L., Marinoni, M., Pellegrini, F. P., Cazzola, G. A., Quinti I, Soresina A, Guerra A, Rondelli R, Spadaro G, Agostini C, Milito C, Trombetta AC, Visentini M, Martini H, Plebani A, Fiorilli M, IPINet Investigator, De Mattia D, Martire B, Cardinale F, Ranieri G, Silvestri F, Masi M, Pession A, Cossu F, Anastasio E, Schillirò G, Matucci A, Vultaggio A, Aricò M, Pietrogrande MC, Delle Piane RM, Panisi C, Cambiaghi G, Pignata C, Putti MC, Trizzino A, Bertolini P, Consolini R, Ugazio AG, Duse M, Iacobini M, Moschese V, Cancrini C, Finocchi A, Pesce AM, Cagliuso M, Conti V, Granata G, Mitrevski M, Cecere F, Tovo PA, Martino S, Montin D, Nespoli L, Marinoni M, Pellegrini FP, and Cazzola GA.

Subjects
Male, bronchiectasis, X-linked agammaglobulinemia, Comorbidity, Gastroenterology, Immunoglobulin G, 0302 clinical medicine, Agammaglobulinemia, Risk Factors, Immunology and Allergy, Prospective Studies, Child, Prospective cohort study, 0303 health sciences, biology, Incidence, common variable immunodeficiency, Middle Aged, 3. Good health, Treatment Outcome, Italy, Female, Intravenous, Adult, x-linked agammaglobulinemia, medicine.medical_specialty, immunoglobulin replacement, Adolescent, effectiveness, iga, Immunology, Disease-Free Survival, Injections, Databases, 03 medical and health sciences, Immunoglobulin replacement, common variable immunodeficiency, X-linked agammaglobulinemia, bronchiectasis, IgA, effectiveness, Internal medicine, medicine, Humans, Risk factor, Preschool, Factual, Aged, 030304 developmental biology, Settore MED/38 - Pediatria Generale e Specialistica, Bronchiectasis, business.industry, Common variable immunodeficiency, Infant, Pneumonia, X-Linked, medicine.disease, Databases, Factual, Injections, Intravenous, Child, Preschool, Immunoglobulin A, Follow-Up Studies, Common Variable Immunodeficiency, Genes, X-Linked, Genes, biology.protein, Trough level, business, 030215 immunology
Abstract

A 5-years multicenter prospective study on 201 patients with common variable immunodeficiencies and 101 patients with X-linked agammaglobulinemia over a cumulative follow-up period of 1,365 patient-years was conducted to identify prognostic markers and risk factors for associated clinical co-morbidities, the effects of long-term immunoglobulin treatment and the IgG trough level to be maintained over time required to minimise infection risk. Overall, 21% of the patients with common variable immunodeficiencies and 24% of patients with X-linked agammaglobulinemia remained infection free during the study. A reduction of pneumonia episodes has been observed after initiation of Ig replacement. During the observation time, pneumonia incidence remained low and constant over time. Patients with pneumonia did not have significant lower IgG trough levels than patients without pneumonia, with the exception of patients whose IgG trough levels were persistently < 400 mg/dL. In X-linked agammaglobulinemia, the only co-morbidity risk factor identified for pneumonia by the final multivariable model was the presence of bronchiectasis. In common variable immunodeficiencies, our data allowed us to identify a clinical phenotype characterised by a high pneumonia risk: patients with low IgG and IgA levels at diagnosis; patients who had IgA level < 7 mg/dL and who had bronchiectasis. The effect of therapy with immunoglobulins at replacement dosage for non-infectious co-morbidities (autoimmunity, lymphocytic hyperplasia and enteropathy) remains to be established. A unique general protective trough IgG level in antibody deficiency patients will remain undefined because of the major role played by the progression of lung disease in X-linked agammaglobulinemia and in a subset of patients with common variable immunodeficiencies.

Published
2011

33. 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, 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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, 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, LH, Wang, C-C, Cheng, Y-H, Tung, C-W, Dietrich, M, Marenholz, I, Kalb, B, Grosche, S, Blümchen, K, Schlags, R, Price, M, Rietz, S, Esparza-Gordillo, J, Lau, S, Lee, Y-A, Almontasheri, A, Bahkali, MA, Elshorbagi, S, Alfhaid, A, Altamimi, M, Madbouly, E, Al-Dhekri, H, Arnaout, RK, Basagaña, M, Miquel, S, Bartolomé, B, Brix, B, Rohwer, S, Brandhoff, S, Berger, A, Suer, W, Weimann, A, Bueno, C, Martín-Pedraza, L, Abián, S, Segundo-Acosta, PS, López-Rodríguez, JC, Barderas, R, Batanero, E, Cuesta-Herranz, J, Villalba, MT, Correia, M, Benito-Garcia, F, Arêde, C, Piedade, S, Morais-Almeida, M, Hindley, J, Yarham, R, Kuklinska-Pijanka, A, Gillick, D, Patient, K, Chapman, MD, Miranda, A, Matos, E, Sokolova, A, Rao, H, Baricevic-Jones, I, Smith, F, Xue, W, Magnusdottir, H, Vidarsdottir, AG, Lund, S, Jensen, AB, Ludviksson, BR, Simon, R, Elfont, R, Bennett, S, Voyksner, R, de Lurdes Torre, M, Yürek, S, Faber, MA, Bastiaensen, A, Mangodt, E, van Gasse, A, Decuyper, I, Sabato, V, Hagendorens, MM, 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

34. Clinical features and follow-up in patients with 22q11.2 deletion syndrome

Author

Cancrini, C, Puliafito, P, Digilio, M, Soresina, A, Martino, S, Rondelli, R, Consolini, R, Ruga, E, Cardinale, F, Finocchi, A, Romiti, Ml, Martire, B, Bacchetta, R, Albano, V, Carotti, A, Specchia, F, Montin, D, Cirillo, E, Cocchi, G, Trizzino, A, Bossi, G, Milanesi, O, Azzari, C, Corsello, G, Pignata, C, Aiuti, A, Pietrogrande, M, Marino, B, Ugazio, A, Plebani, A, Rossi, P, Pierani, P, Gabrielli, A, Danieli, M, De Mattia, D, Sisto, C, Dammacco, F, Ranieri, G, Pession, A, Ricci, G, Minelli, P, Lougaris, V, Badolato, R, Cattaneo, R, Airò, P, Mura, R, Cossu, F, Del Giacco, S, Manconi, P, Consarino, C, Dello Russo, A, Miniero, R, Anastasio, E, Marino, S, Russo, G, Paganelli, R, Sperlì, D, Carpino, L, Aricò, M, Gambineri, E, Lippi, F, Canessa, C, Maggi, E, Romagnani, S, Matucci, A, Vultaggio, A, Gattorno, M, Castagnola, E, Nigro, G, Presta, G, Civino, A, Buzi, F, Gambaretto, G, Fasoli, S, Salpietro, C, Gallizzi, R, Dellepiane, R, Panisi, C, Fabio, G, Carrabba, M, Roncarolo, M, Biondi, A, Vallinoto, C, Poggi, V, Menna, G, Di Nardo, R, Sottile, R, Marone, G, Spadaro, G, Carli, M, Basso, G, Putti, C, Semenzato, G, Agostini, C, D'Angelo, P, Izzi, G, Bertolini, P, Zecca, M, Marseglia, G, Maccario, R, Felici, L, Favre, C, Vecchi, V, Sacchini, P, Rinaldi, G, Livadiotti, S, Simonetti, A, Stabile, A, Duse, M, Iacobini, M, Quinti, I, Fiorilli, M, Moschese, V, Cecere, F, D'Ambrosio, A, De Zan, G, Strafella, S, Tamaro, P, Rabusin, M, Tommasini, A, Tovo, P, De Carli, M, De Carli, S, Nespoli, L, Marinoni, M, Porcellini, A, Lunardi, C, Patuzzo, G, Boner, A, Degani, D, Cancrini, C, Puliafito, P, Digilio, Mc, Soresina, A, Martino, S, Rondelli, R, Consolini, R, Ruga, Em, Cardinale, F, Finocchi, A, Romiti, Ml, Martire, B, Bacchetta, R, Albano, V, Carotti, A, Specchia, F, Montin, D, Cirillo, E, Cocchi, G, Trizzino, A, Bossi, G, Milanesi, O, Azzari, C, Corsello, G, Pignata, C, Aiuti, Alessandro, Pietrogrande, Mc, Marino, B, Ugazio, Ag, Plebani, A, Rossi, P., Cancrini, Caterina, Puliafito, Pamela, Digilio, Maria Cristina, Soresina, Annarosa, Martino, Silvana, Rondelli, Roberto, Consolini, Rita, Ruga, Ezia Maria, Cardinale, Fabio, Finocchi, Andrea, Romiti, Maria Luisa, Martire, Baldassarre, Bacchetta, Rosa, Albano, Veronica, Carotti, Adriano, Specchia, Fernando, Montin, Davide, Cirillo, Emilia, Cocchi, Guido, Trizzino, Antonino, Bossi, Grazia, Milanesi, Ornella, Azzari, Chiara, Corsello, Giovanni, Pignata, Claudio, Pietrogrande, Maria Cristina, Marino, Bruno, Ugazio, Alberto Giovanni, Plebani, Alessandro, Rossi, Paolo, Aiuti, A, Rossi, P, Pierani, P, Gabrielli, A, Danieli, Mg, De Mattia, D, Sisto, C, Dammacco, F, Ranieri, G, Pession, A, Ricci, G, Minelli, P, Lougaris, V, Badolato, R, Cattaneo, R, Airò, P, Mura, Rm, Cossu, F, Del Giacco, S, Manconi, Pe, Consarino, C, Dello Russo, Am, Miniero, R, Anastasio, E, Marino, S, Russo, G, Paganelli, R, Sperlì, D, Carpino, L, Aricò, M, Gambineri, E, Lippi, F, Canessa, C, Maggi, E, Romagnani, S, Matucci, A, Vultaggio, A, Gattorno, M, Castagnola, E, Nigro, G, Presta, G, Civino, A, Buzi, F, Gambaretto, G, Fasoli, S, Salpietro, C, Gallizzi, R, Dellepiane, Rm, Panisi, C, Fabio, G, Carrabba, M, Pietrogrande, M, Roncarolo, Mg, Biondi, A, Vallinoto, C, Poggi, V, Menna, G, Di Nardo, R, Sottile, R, Marone, G, Spadaro, G, Carli, M, Basso, G, Putti, C, Semenzato, G, Agostini, C, D'Angelo, P, Izzi, G, Bertolini, P, Zecca, M, Marseglia, G, Maccario, R, Felici, L, Favre, C, Vecchi, V, Sacchini, P, Rinaldi, G, Livadiotti, S, Simonetti, A, Stabile, A, Duse, M, Iacobini, M, Quinti, I, Fiorilli, M, Moschese, V, Cecere, F, D'Ambrosio, A, De Zan, G, Strafella, S, Tamaro, Paolo, Rabusin, M, Tommasini, A, Tovo, P, De Carli, M, De Carli, S, Nespoli, L, Marinoni, M, Porcellini, A, Lunardi, C, Patuzzo, G, Boner, A, Degani, D., Cancrini, C., Pulisfito, P., Digilio, M. C., Soresina, A., Martino, S., Rondelli, R., Consolini, R., Ruga, E. M., C. a. r. d. i. n. a. l. e., F., Finocchi, A., Romiti, M. L., Martire, B., Bacchetta, R., Albano, V., Carotti, A., Specchia, F., Montin, D., Cocchi, G., Trizzino, A., Bossi, G., Milanesi, O., Azzari, C., Corsello, G., Aiuti, A., Pietrogrande, M. C., Marino, B., Ugazio, A. G., Plebani, A., Digilio, MC, Ruga, EM, Romiti, ML, trizzino, A, Aiuti, Pietrogrande, MC, and Ugazio, AG

Subjects
Male, Pediatrics, 22q11.2 deletion, Delayed Diagnosis, Time Factors, Chromosomes, Human, Pair 22, Developmental Disabilities, digeorge syndrome, Sex Factor, Severity of Illness Index, Retrospective Studie, DiGeorge syndrome, Early Diagnosi, Age Factor, Prospective Studies, Neonatal hypocalcemia, Prospective cohort study, Child, medicine.diagnostic_test, Delayed Diagnosi, Primary immune disorders, Age Factors, del 22q, MIM, Abnormalities, Multiple, Adolescent, Adult, Child, Preschool, DiGeorge Syndrome, Early Diagnosis, Female, Follow-Up Studies, Genetic Testing, Humans, Infant, Infant, Newborn, Monitoring, Physiologic, Retrospective Studies, Risk Assessment, Sex Factors, Young Adult, Disease Progression, Cohort, Abnormalities, Multiple, Pediatrics, Perinatology and Child Health, Human, medicine.medical_specialty, Time Factor, Monitoring, Developmental Disabilitie, Italian Association of Pediatric Haematology and Oncology, Context (language use), Chromosomes, Follow-Up Studie, Severity of illness, medicine, 22q11DS, 22q11.2 deletion syndrome, AIEOP, Mendelian Inheritance in Man, Preschool, Physiologic, Genetic testing, Settore MED/38 - Pediatria Generale e Specialistica, business.industry, Retrospective cohort study, medicine.disease, Newborn, Prospective Studie, Pair 22, business
Abstract

Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, clinical features such as speech and language impairment, developmental delay, minor cardiac defects, recurrent infections, and facial features were the main elements leading to diagnosis. During follow-up (available for 172 patients), the frequency of autoimmune manifestations ( P = .015) and speech disorders ( P = .002) increased. After a median follow-up of 43 months, the survival probability was 0.92 at 15 years from diagnosis. Conclusions Our data show a delay in the diagnosis of 22q11.2 deletion syndrome with noncardiac symptoms. This study provides guidelines for pediatricians and specialists for early identification of cases that can be confirmed by genetic testing, which would permit the provision of appropriate clinical management.

Published
2014

35. Assessment of nutritional status in agammaglobulinemia: results of a multicenter study

Author

Raimondi, M., Dellepiane, R. M., Pavesi, P., Soresina, A., Carrabba, M., Martino, S., Russo, G., Patuzzo, G., Specchia, F., Duse, M., Gallizzi, R., Moschese, V., Marseglia, G. L., Pietrogrande, M. C., Agostoni, C., PIGNATA, CLAUDIO, Raimondi, M., Dellepiane, R. M., Pavesi, P., Soresina, A., Carrabba, M., Martino, S., Russo, G., Patuzzo, G., Pignata, Claudio, Specchia, F., Duse, M., Gallizzi, R., Moschese, V., Marseglia, G. L., Pietrogrande, M. C., and Agostoni, C.

Abstract

Primary antibody deficiencies are a group of disorders characterized by an unusual susceptibility to infections and malnutrition. Little is known on nutritional status in primary immunodeficiencies, since only one study was published on this topic. The aim of the multicenter study is general assessment of nutritional status of patients with primary agammaglobulinemia (XLA or AAR). Sixty-five patients (all males, aged 2-57 years, median age 18,5 years) were enrolled referring to eleven Italian Centers (IPINET). Short questionnaire to evaluate physiological data and nutritional habits was subministered. Anthropometric indicies (weight, height, BMI, skinfolds and circumferences) and blood tests (IGF-1, prealbumin, albumin, blood glucose, insulin, total cholesterol, HDL, LDL, apolipoprotein A and B, triglycerides) were measured. All data were collected in standardized Case Report Form. Fourty-nine patients showed weight and BMI percentiles between 25 ° and 97 °. Weight and BMI percentiles at enrollment seemed similar or higher that the corresponding percentiles at the time of diagnosis . The laboratory blood tests values showed no significant difference compared to the reference values for each age class. No signs of malnutrition were found in tested patients. We speculate that an adequate immunoglobulin replacement therapy in patients with Agammaglobulinemia may help in reducing the risk of malnutrition by supplying protein chains and trough the reduction of infections.

Published
2014

36. The Quality of Life of Children and Adolescents with X-Linked Agammaglobulinemia

Author

Soresina A., Nacinovich R., Bomba M., Cassani M., Molinaro A., Sciotto A., Martino S., Cardinale F., De Mattia D., Putti C., Dellepiane R.M., Felici L., Parrinello G., Neri F., Plebani A., Pierani P., DeMattia D., Martire B., Armenio L., Dammacco F., Ranieri G., Masi M., Miniaci A., Pession A., Rondelli R., Notarangelo L. D., Cao, Cossu F., Del Giacco S., Manconi P., Evangelista I., Magro S., Morgione S., STRISCIUGLIO, PIETRO, Anastasio E., Schillirò G., Paganelli R., Sticca M., Sperlì D., Carpino L., Bernini G., Azzari C., Maggi E., Romagnani S., Matucci A., Vultaggio A., Castagnola E., Gattorno M., Presta G., Civino A., Gambaretto G., Fasoli S., Salpietro C., Pietrogrande M.C., DellePiane R.M., Panisi C., Cambiaghi G., Pietrogrande M., Roncarolo M.G., Aiuti A., Masera G., Biondi A., Sala A., PIGNATA, CLAUDIO, Poggi V., Menna G., Di Nardo R., D'Apuzzo A., Pelliccia A., Correra A., Marone G., SPADARO, GIUSEPPE, Carli M., Zanesco L., Basso G., Putti M.C., Semenzato G., Agostini C., Amato G.M., Aricò M., Trizzino A., Izzi G., Bertolini P., Locatelli F., Zecca M., Rondini G., Marseglia G.L., Maccario R., Bossi G., Favre C., Consolini R., Vecchi V., Sacchini P., Rinaldi G., Ugazio A.G., Rossi P., Livadiotti S., Cancrini C., Finocchi A., Stabile A., Duse M., Iacobini M., Quinti I., Moschese V., Cecere F., Morgese G., Acquaviva A., De Zan G., Strafella S., Tamaro P., Rabusin M., Tovo P.A., Nespoli L., Marinoni M., Porcellini A., Cazzola G.A., Annarosa, Soresina, Renata, Nacinovich, Monica, Bomba, Morena, Cassani, Molinaro, Anna, Antonella, Sciotto, Silvana, Martino, Fabio, Cardinale, Domenico, Mattia, Caterina, Putti, Rosa Maria, Dellepiane, Leonardo, Felici, Giovanni, Parrinello, Francesca, Neri, Alessandro, Plebani, Soresina, A, Nacinovich, R, Bomba, M, Cassani, M, Molinaro, A, Sciotto, A, Martino, S, Cardinale, F, De Mattia, D, Putti, C, Dellepiane, R, Felici, L, Parrinello, G, Neri, F, Plebani, A, Soresina, A., Nacinovich, R., Bomba, M., Cassani, M., Molinaro, A., Sciotto, A., Martino, S., Cardinale, F., De Mattia, D., Putti, C., Dellepiane, R. M., Felici, L., Parrinello, G., Neri, F., Plebani, A., Pierani, P., Demattia, D., Martire, B., Armenio, L., Dammacco, F., Ranieri, G., Masi, M., Miniaci, A., Pession, A., Rondelli, R., Notarangelo, L. D., Cao, Cossu, F., Del Giacco, S., Manconi, P., Evangelista, I., Magro, S., Morgione, S., Strisciuglio, Pietro, Anastasio, E., Schillirò, G., Paganelli, R., Sticca, M., Sperlì, D., Carpino, L., Bernini, G., Azzari, C., Maggi, E., Romagnani, S., Matucci, A., Vultaggio, A., Castagnola, E., Gattorno, M., Presta, G., Civino, A., Gambaretto, G., Fasoli, S., Salpietro, C., Pietrogrande, M. C., Panisi, C., Cambiaghi, G., Pietrogrande, M., Roncarolo, M. G., Aiuti, A., Masera, G., Biondi, A., Sala, A., Pignata, Claudio, Poggi, V., Menna, G., Di Nardo, R., D'Apuzzo, A., Pelliccia, A., Correra, A., Marone, G., Spadaro, Giuseppe, Carli, M., Zanesco, L., Basso, G., Putti, M. C., Semenzato, G., Agostini, C., Amato, G. M., Aricò, M., Trizzino, A., Izzi, G., Bertolini, P., Locatelli, F., Zecca, M., Rondini, G., Marseglia, G. L., Maccario, R., Bossi, G., Favre, C., Consolini, R., Vecchi, V., Sacchini, P., Rinaldi, G., Ugazio, A. G., Rossi, P., Livadiotti, S., Cancrini, C., Finocchi, A., Stabile, A., Duse, M., Iacobini, M., Quinti, I., Moschese, V., Cecere, F., Morgese, G., Acquaviva, A., De Zan, G., Strafella, S., Tamaro, P., Rabusin, M., Tovo, P. A., Nespoli, L., Marinoni, M., Porcellini, A., and Cazzola, G. A.

Subjects
Male, Pediatrics, medicine.medical_specialty, x-linked agammaglobulinemia, Activities of daily living, Adolescent, X-linked agammaglobulinemia, Health Status, Immunology, pedsql 4.0 generic core scale, Quality of life, children, Agammaglobulinemia, Surveys and Questionnaires, Activities of Daily Living, health-related quality of life, parents, medicine, Humans, Immunology and Allergy, PedsQL 4.0 Generic Core Scale, Child, Settore MED/38 - Pediatria Generale e Specialistica, Health related quality of life, quality of live, business.industry, Immunoglobulins, Intravenous, Genetic Diseases, X-Linked, medicine.disease, Socioeconomic Factors, Child, Preschool, Mutation, Quality of Life, Female, X-linked agammaglobulinemia - children - parents - health-related quality of life - PedsQL 4.0 Generic Core Scale, business
Abstract

Introduction: The health-related quality of life in X-linked agammaglobulinemia was investigated in 25 children and adolescents patients through the Italian version of Pediatric Quality of Life Inventory 4.0 Generic Core Scale for patients aged less then 18 years, comparing child perception to that of the parents and the physician's evaluation. The data were compared with the ones of 80 healthy controls and the literature data of a group of patients with rheumatic diseases. Discussion: The agammaglobulinemia subjects perceived a lower global quality of life than the healthy subjects, but significantly higher than the rheumatic diseases controls. The clinical relevance of health-related quality of life assessment in X-linked agammaglobulinemia pediatric patients is discussed. © 2008 Springer Science+Business Media, LLC.

Published
2009

37. Neuroimaging is useful for monitoring disease activity in linear scleroderma 'en coup de sabre'

Author

Chini, L., Antonio Orlacchio, Silenzi, R., Della Gatta, F., Iannini, R., Monteferrario, E., Spano, S., Guarino, M., Moschese, V., and Simonetti, G.

Subjects
Settore MED/38 - Pediatria Generale e Specialistica, Scleroderma, Localized, Scalp, Child, Preschool, Humans, Female, Neuroimaging, Localized, Child, Preschool, Scleroderma
Abstract

Scleroderma is a group of rare chronic connective tissue disorders characterized by collagen accumulation that causes tissue hardening with consequent fibrosis. Skin involvement is mostly frequent, although several internal organs can be impaired (heart, lungs, liver, etc.). In childhood, juvenile localized scleroderma (JLS) is more frequently observed; in this subtype cutaneous lesions predominate frequently on the limbs but also on the face and scalp; in this case, it is referred to as scleroderma "en coup de sabre" (ECDS). Neurological abnormalities have been described in association with ECDS as an effect of progressive scalp and underlying tissues involvement. Up to now, no validated biomarkers exist to evaluate disease evolution and, in this way, frequently diagnosis of central nervous system (CNS) involvement occurs when patients are already symptomatic. We describe the case of a 5-year old girl, with a diagnosis of ECDS characterized by the typical scalp lesion, with slight subsidence of the underlying diploe. In this case, radiological examination has been essential to evaluate the degree of progression of skin and soft tissues lesions and to clarify the right therapeutic approach. In selected JLS children, both MRI and CT with 3D reconstruction images provide a useful tool to monitor disease evolution and to address therapeutic choices.

Published
2014

39. The outcome of children with an initial suspected diagnosis of transient hypogammaglobulinemia of infancy

Author

Moschese, V., Graziani, S., La Rocca, M., Chini, L., Pignata, C., Soresina, A. R., Consolini, R., Trizzino, A., Martino, S., Bossi, G., Putti, M. C., Bertolini, P., Pietrogrande, M. C., Zecca, M., Marseglia, G. L., Cardinale, F., PAOLO ROSSI, Plebani, A., Moschese, V., Graziani, S., La Rocca, M., Chini, L., Pignata, Claudio, Soresina, A. R., Consolini, R., Trizzino, A., Martino, S., Bossi, G., Putti, M. C., Bertolini, P., Pietrogrande, M. C., Zecca, M., Marseglia, G. L., Cardinale, F., Rossi, P., and Plebani, A.

Subjects
Settore MED/38 - Pediatria Generale e Specialistica
Published
2008

40. Expressions and functionality of B lymphocytes in patients with an initial diagnosis of transitory hypogammaglobulinemia of infancy

Author

Moschese, V., La Rocca, M., Graziani, S., Avanzini, M. A., Carsetti, R., Marconi, M., Di Cesare, S., Chini, L., Soresina, A. R., Bossi, G., Trizzino, A., Consolini, R., Cardinale, F., Martino, S., Pignata, C., Zecca, M., Putti, C., PAOLO ROSSI, Plebani, A., Moschese, V., La Rocca, M., Graziani, S., Avanzini, M. A., Carsetti, R., Marconi, M., Di Cesare, S., Chini, L., Soresina, A. R., Bossi, G., Trizzino, A., Consolini, R., Cardinale, F., Martino, S., Pignata, Claudio, Zecca, M., Putti, C., Rossi, P., and Plebani, A.

Subjects
Settore MED/38 - Pediatria Generale e Specialistica
Published
2007

41. Risultati definitivi dello studio prospettico multicentrico di sorveglianza degli effetti collaterali nell'utilizzo delle immunoglobuline per via endovenosa

Author

Soresina A., Rondelli R., Quinti I., Agostini C., Spadaro G., Marzollo R., Martino S., Pietrogrande M.C., Putti C., Trizzino N., Moschese V., Consolini R., Ugazio A.G., Plebani A., PESSION, ANDREA, Soresina A., Rondelli R., Quinti I., Agostini C., Spadaro G., Marzollo R., Martino S., Pietrogrande MC., Putti C., Trizzino N., Moschese V., Consolini R., Pession A., Ugazio AG., and Plebani A.

Published
2007

42. Importanza del follow up clinico nei pazienti con ipogammaglobulinemia transitoria

Author

Moschese V., Graziani S., Chini L., Pignata C., Soresina A.R., Consolini R., Bossi G., Martino S., Trizzino A., Bertolini P., Cardinale F., Martire B., Pietogrande M.C., Rondelli R., Rossi P., Ugazio A.G., Plebani A., PESSION, ANDREA, Moschese V., Graziani S., Chini L., Pignata C., Soresina AR., Consolini R., Bossi G., Martino S., Trizzino A., Bertolini P., Cardinale F., Martire B., Pietogrande MC., Rondelli R., Pession A., Rossi P., Ugazio AG., and Plebani A.

Published
2006

44. L'ipogammaglobulinemia transitorio dell'infanzia:risultati dello studio multicentrico CSS-ID/AIEOP

Author

Moschese V., Graziani S., Chini L., Pignata C., Soresina A.R., Consolini R., Bossi G., Martino S., Trizzino A., Cardinale F., Martire B., Rondelli R., Rossi P., Ugazio A.G., Plebani A., PESSION, ANDREA, Moschese V., Graziani S., Chini L., Pignata C., Soresina AR., Consolini R., Bossi G., Martino S., Trizzino A., Cardinale F., Martire B., Rondelli R., Pession A., Rossi P., Ugazio AG., and Plebani A.

Published
2005

45. Risultati dell'applicazione delle raccomandazioni AIEOP per l'agammaglobulinemia X-recessiva

Author

Soresina A., Rondelli R., Notarangelo L.D., Duse M., Quinti I., Azzari C., pietrogrande M.C., Martino S., De Mattia D., Martire B., Rossi P., Moschese V., Cardinale F., Masi M., Pignata C., Amato G.M., Cazzola G.A., Consolini R., Nigro G., Stabile A., Locatelli F., Sciotto A., Di Nardo R., Strisciuglio P., Ambrosiani G., Marseglia G.L., Nespoli L., Felici P., Fiorini M., Ugazio A.G., Plebani A., PESSION, ANDREA, Soresina A., Rondelli R., Notarangelo LD., Duse M., Quinti I., Azzari C., pietrogrande MC., Martino S., De Mattia D., Martire B., Rossi P., Moschese V., Cardinale F., Masi M., Pignata C., Amato GM., Cazzola GA., Consolini R., Nigro G., Stabile A., Locatelli F., Sciotto A., Di Nardo R., Strisciuglio P., Ambrosiani G., Marseglia GL., Nespoli L., Felici P., Fiorini M., Pession A., Ugazio AG., and Plebani A.

Published
2005

46. Immune responses to tetanus vaccination in Italian healthy subjects and children with recurrent infections

Author

Graziani, S, Romiti, Ml, Capponi, C, DI CESARE, S, Corrente, S, Monteferrario, E, DI PAOLO, A, De Marchis, C, Chini, L, and Moschese, V

Subjects
Adult, Antibodies, Recurrence, Tetanus Toxoid, Humans, Child, Aged, Settore MED/38 - Pediatria Generale e Specialistica, Immunity, Cellular, Tetanus, Vaccination, Bacterial, Immunity, Infant, Newborn, Humoral, Infant, Middle Aged, Newborn, Antibodies, Bacterial, Antibody Formation, Health, Italy, Cytokines, Immunity, Humoral, Cellular
Abstract

The ability of vaccine antigen to generate protection is a challenge that cannot be restricted to the antibody response; however, the contribution of T cell-mediated mechanisms has not been extensively analyzed. Age and administration to specific categories of patients, i.e. children with recurrent infections (RI), are some of the factors that might affect the vaccine immune response. We investigated the humoral and cellular response to tetanus toxoid (TT) vaccine in 104 healthy children (HC), 11 newborns and 22 healthy adults to characterize the status of immunity according to age and compared it to 118 RI children. Humoral and cellular responses varied in both groups according to age and doses of TT administered. The prevalence of antibody and cellular response was similar in both cohorts (HC 88 percent and 82 percent versus RI 86 percent and 85 percent), however, TT antibody values were significantly higher in 12-18 months old RI children compared to HC (median: 5 IU/ml vs 1.10 IU/ml) (p = 0.02). The lack of an efficient immune response was observed in 12-15 percent of children from both cohorts. Our data showed that specific antibodies were responsible for early protection, whereas cell-mediated mechanisms may contribute to the generation of long-term immunity after an appropriate vaccine recall. The occurrence of higher TT antibody values in 12-18 months old RI children deserves additional research to determine whether they are caused by different infectious agents and/or by other environmental factors. Clarification of this issue is important for categorizing patients into an optimal vaccine policy.

Published
2013

49. A survey on features of allergic rhinitis in children

Author

Zicari, A, Indinnimeo, L, De Castro, G, Incorvaia, C, Frati, F, Dell'Albani, I, Puccinelli, P, Scolari, M, Duse, M, Ahmad, K, Alessandri, C, Anastasio, E, Baldo, E, Barberi, S, Bernardini, R, Boccafogli, A, Boner, A, Brunetti, L, Caffarelli, C, Capocasale, G, Capra, L, Carbone, M, Cavaliere, C, Celani, C, Cervone, R, Cesoni Marcelli, A, Chini, L, Cortellini, G, Costantino, M, Cutrera, R, Dello Iacono, I, De Vittori, V, Dinella, G, Esposito, S, Ferrarini, E, Ferraro, F, Gelardi, M, Gualtiero, L, La Grutta, S, Lietti, D, Lollobrigida, V, Marinoni, M, Marseglia, G, Masieri, S, Minasi, D, Del Giudice, M, Moschese, V, Nespoli, L, Novembre, E, Occasi, F, Pace, M, Pajno, G, Patria, M, Peroni, D, Ricci, G, Ricciardi, L, Roncallo, C, Santamaria, F, Santucci, A, Sciacca, A, Scala, G, Taddeo, G, Tancredi, G, Tosca, M, Varricchio, A, Zampogna, S, Zicari, Am, Indinnimeo, L, De Castro, G, Incorvaia, C, Frati, F, Dell'Albani, I, Puccinelli, P, Scolari, M, MIRAGLIA DEL GIUDICE, Michele, Duse, M., Zicari, A., Indinnimeo, L., De Castro, G., Incorvaia, C., Frati, F., Dell'Albani, I., Puccinelli, P., Scolari, M., and La Grutta, Stefania.

Subjects
Questionnaires, Male, Pediatrics, medicine.disease_cause, Adrenal Cortex Hormone, Allergic rhinitis, Drug treatment, Allergen, Adrenal Cortex Hormones, Grass pollen, Surveys and Questionnaires, Child, Rhinitis, Allergen immunotherapy, biology, Medicine (all), Pyroglyphidae, General Medicine, Dust mites, Response to treatment, Phenotypes, Phenotype, Italy, Child, Preschool, Female, Adolescent, Animals, Histamine Antagonists, Humans, Rhinitis, Allergic, Seasonal, Histamine Antagonist, Human, allergen immunotherapy, phenotypes, aria classification, allergic rhinitis, drug treatment, medicine.medical_specialty, ARIA classification, Allergic, medicine, Allergic rhiniti, Preschool, Settore MED/38 - Pediatria Generale e Specialistica, Seasonal, business.industry, Animal, Questionnaire, biology.organism_classification, Dermatology, Clinical trial, Multicenter study, business
Abstract

Objective: A number of epidemiologic studies evaluated the prevalence of allergic rhinitis (AR), but few data are available on its different clinical presentations. We addressed this survey to assess the features of AR in children and adolescents. Methods: Thirty-five centers in Italy included 2623 pediatric patients with rhinitis, of whom 2319 suffered from AR, while 304 had other kinds of rhinitis. For each patient a standardized questionnaire was filled in, including ARIA classification, the duration of symptoms, the allergen identified as clinically relevant, the co-morbidities, the kind of treatment, the response to treatment, the satisfaction with the treatment, and the feasibility of allergen immunotherapy (AIT). Results: Of the 2319 patients, 597 (25.7%) had mild intermittent, 701 (30.2%) mild persistent, 174 (7.5%) moderate-severe intermittent, and 773 (33.3%) moderate-severe persistent AR. The allergens most relevant were grass pollen and dust mites. The most frequently used drugs were oral antihistamines (83.1%) and topical corticosteroids (63.5%). The response to treatment was judged as excellent in 13.5%, good in 45.1%, fair in 30.8%, poor in 10%, and very bad in 0.6% of cases. The satisfaction with treatment was judged as very satisfactory in 15.2%, satisfactory in 61.8%, unsatisfactory in 22.4%, and very unsatisfactory in 0.5% of cases. AIT was considered indicated in 53.1% of patients with mild intermittent, 79.2% of moderate-severe intermittent, 72.6% of mild persistent, and 82.7% of moderate-severe persistent AR. Conclusions: The limitation of this study is that the population was not unselected and this prevents epidemiological significance. These results offer confirmation of the adequacy of ARIA guidelines in classifying patients with AR and of the association of severe phenotype with lack of success of drug treatment. © 2013 Informa UK Ltd All rights reserved.

Published
2013

50. 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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