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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

2. 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

3. 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

4. Presence of Maternal Antibodies to Human Immunodeficiency Virus 1 Envelope Glycoprotein gp120 Epitopes Correlates with the Uninfected Status of Children Born to Seropositive Mothers

Author: Rossi, P., Moschese, V., Broliden, P. A., Fundaro, C., Quinti, I., Plebani, A., Giaquinto, C., Tovo, P. A., Ljunggren, K., Rosen, J., Wigzell, H., Jondal, M., and Wahren, B.
Published: 1989

5. Detection of Antibodies to Human Immunodeficiency Virus Type I by Using Synthetic Peptides and Time-Resolved Fluoroimmunoassay (TR-FIA)

Author: Lombardi, V. R. M., Libonatti, O., Alimandi, M., Ansotegui, I., Scarlatti, G., Moschese, V., Wigzell, H., and Rossi, P.
Published: 1992

6. 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

7. 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

8. 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

9. 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

10. 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

11. 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

12. 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

13. Insight into Genetics of Atopic Dermatitis: Future Approaches and Directions

Author: Novelli, G., Giardina, E., Paradisi, M., Pedicelli, C., Girolomoni, G., Nasorri, F., Chimenti, S., Marulli, G., Rossi, P., Moschese, V., Chini, L., and Capon, F.
Published: 2003

14. Brutonʼs tyrosine kinase defect in dendritic cells from X-linked agammaglobulinaemia patients does not influence their differentiation, maturation and antigen-presenting cell function

Author: GAGLIARDI, M. C., FINOCCHI, A., ORLANDI, P., CURSI, L., CANCRINI, C., MOSCHESE, V., MIYAWAKI, T., and ROSSI, P.
Published: 2003

15. 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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16. Corrigendum to: 'Vaccination in immunocompromised host: Recommendations of Italian Primary Immunodeficiency Network Centers (IPINET)' [Vaccine 36 (2018) Pages 3541–3542](S0264410X1830121X)(10.1016/j.vaccine.2018.01.061)

Author: Martire, B, Azzari, C, Badolato, R, Canessa, C, Cirillo, E, Gallo, V, Graziani, S, Lorenzini, T, Milito, C, Panza, R, and Moschese, V
Subjects: Settore MED/38 - Pediatria Generale e Specialistica, corrigendum
Published: 2018

17. Biweekly hizentra® in primary immunodeficiency: A multicenter, observational cohort study (IBIS)

Author: Vultaggio, A., Azzari, C., Ricci, S., Martire, B., Palladino, V., Gallo, V., Pecoraro, A., Pignata, C., Spadaro, G., Graziani, S., Moschese, V., Trizzino, A., Boggia, Giorgio Maria, and Matucci, A.
Subjects: 20% subcutaneous immunoglobulin, Biweekly administration, IBIS study, Primary immunodeficiency disease
Published: 2018

18. 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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19. 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

20. 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

21. HIV Viral Sequences In Seronegative People At Risk Detected By In Situ Hybridisation And Polymerase Chain Reaction

Author: Pezzella, M., Rossi, P., Lombardi, V., Gemelli, V., Costantini, R. Mariani, Mirolo, M., Fundaro, C., Moschese, V., and Wigzell, H.
Published: 1989

22. 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, 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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

23. 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

24. 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

25. Kinetics of in Vitro Response to β-Lactoglobulin in Children Allergic to and Tolerant of Cow’s Milk Protein

Author: Chini, L, primary, Pacciani, V, additional, Corrente, S, additional, Monteferrario, E, additional, Romiti, ML, additional, Moschese, V, additional, and Angelini, F, additional
Published: 2016
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26. 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

27. 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

28. Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study

Author: Plebani, A, Soresina, A, Rondelli, R, Amato, Gm, Azzari, C, Cardinale, F, Cazzola, G, Consolini, R, De Mattia, D, Dell'Erba, G, Duse, M, Fiorini, M, Martino, Silvana, Martire, B, Masi, M, Monafo, V, Moschese, V, Notarangelo, Ld, Orlandi, P, Panei, P, Pession, A, Pietrogrande, Mc, Pignata, C, Quinti, I, Ragno, V, Rossi, P, Sciotto, A, Stabile, A, Italian Pediatric Group for XLA AIEOP, Plebani, A., Soresina, A., Rondelli, R., Amato, G. M., Azzari, C., Cardinale, F., Cazzola, G., Consolini, R., DE MATTIA, D., Dell'Erba, G., Duse, M., Fiorini, M., Martino, S., Martire, B., Masi, M., Monafo, V., Moschese, V., Notarangelo, L. D., Orlandi, P., Panei, P., Pession, A., Pietrogrande, M. C., Pignata, Claudio, Quinti, I., Ragno, V., Rossi, P., Sciotto, A., and Stabile, A.
Subjects: Lung Diseases, Adult, Male, Pediatrics, medicine.medical_specialty, Genetic Linkage, Agammaglobulinemia, Humans, Infant, Newborn, Protein-Tyrosine Kinases, Child, Child, Preschool, X Chromosome, Immunoglobulins, Intravenous, Cohort Studies, Chronic Disease, Follow-Up Studies, Adolescent, Mutation, clinical features, X-linked agammaglobulinemia, Immunology, Immunoglobulins, infections, intravenous immunoglobulin, BTK mutation, Sepsis, Immunopathology, Epidemiology, medicine, Agammaglobulinaemia Tyrosine Kinase, Immunology and Allergy, Preschool, Settore MED/38 - Pediatria Generale e Specialistica, BTK mutations, business.industry, Chronic sinusitis, Meningoencephalitis, Infant, medicine.disease, Newborn, agammaglobulinemia, business, Intravenous, Meningitis, Cohort study
Abstract: A questionnaire-based retrospective clinical and immunological survey was conducted in 73 males with a definite diagnosis of X-linked agammaglobulinemia based on BTK sequence analysis. Forty-four were sporadic and 29 familial cases. At December 2000, the patients' ages ranged from 2 to 33 years; mean age at diagnosis and mean duration of follow-up were 3.5 and 10 years respectively. After the mid-1980s all but 2 were on intravenous immunoglobulin (IVIG) substitution therapy, with residual IgG >500 mg/dl in 94% of the patients at the time of enrollment. Respiratory infections were the most frequent manifestation both prior to diagnosis and over follow-up. Chronic lung disease (CLD) was present in 24 patients, in 15 already at diagnosis and in 9 more by 2000. The cumulative risk to present at diagnosis with CLD increased from 0.17 to 0.40 and 0.78 when the diagnosis was made at the ages of 5, 10, and 15 years respectively. For the 9 patients who developed CLD during follow-up, the duration of follow-up, rather than age at diagnosis; previous administration of intramuscular immunoglobulin; and residual IgG levels had a significant effect on the development of CLD. Chronic sinusitis was present in 35 patients (48%), in 15 already at diagnosis and in 20 by 2000. Sistemic infections such as sepsis and meningitis/meningoencephalitis decreased over follow-up, probably due to optimal protection provided by high circulating IgG levels reached with IVIG.
Published: 2002

29. RESULTS OF THE IMPLEMENTATION OF THE AIEOP RECOMMENDATIONS FOR AGAMMAGLUBOLINEMIA X-RECESSION (SLA): NATUAL HISTORY AND QUALITY OF LIFE OF 139 PATIENTS WITH XLA

Author: Soresina, A., Rondelli, R., Pulcini, S., Quinti, I., Azzan, C., Pietrogrande, M. C., Martino, S., Mattia, D., Martire, B., Rossi, P., Moschese, V., Cardinale, F., Masi, M., Pignata, C., Cazzola, G. A., Duse, M., Consolini, R., Stabile, A., Locatelli, F., Trizzino, N., Maria Rosaria RICCIARDI, Di Nardo, R., Nespoli, L., Marseglia, G. L., Felici, P., Fionni, M., Giliani, S., Pession, A., Ugazio, A. G., and Plebani, A.
Subjects: Settore MED/38 - Pediatria Generale e Specialistica
Published: 2012

30. The allergic sensitization in infants with atopic eczema from different countries

Author: de Benedictis, F, Franceschini, F, Hill, D, Naspitz, C, Simons, F, Wahn, U, Warner, J, de Longueville, M, Gold, M, Quinn, P, Marshall, H, Kummerow, M, Heine, R, Bannister, D, Sly, P, Loh, R, Halbert, A, Douglas, T, Stick, S, van Asperen, P, Kakakios, A, Nightingale, W, Mckay, K, Zach, M, Pfleger, A, Varga, E, Emminger, W, Käfer, B, Stefanovic, D, Plank, V, de Moor, A, Desager, K, Hagendorens, M, de Raeve, L, Malfoort, A, Rybnícek, O, Chládková, J, Chyba, T, Kopriva, F, Skopková, O, Balcárek, V, Honomichlova, H, Honomichlová Houdkova, P, Honomichl, P, Petru, V, Carbolova, A, Kopecká, K, Pohunek, P, Svobodova, T, Spicák, V, Kopecka, K, Maltulka, M, Spicáková, M, Kynclova, S, Billard, E, Robert, M, Cartier, H, Castelain, M, Payot, F, Levy, J, Ruer, M, Cambazard, F, Perrot, J, Fond, L, Pétrus, M, Rancé, F, Le Manach, G, Robert, J, Friedrichs, F, Pfannenstiel, C, Jobst, S, Schatz, H, Niggemann, B, Grüber, C, Bresser, H, Landwehr, K, Schauer, U, Zimmermann, T, Hertl, M, Froehlich Krapf, T, Bulle, D, Rietschel, E, Lange, L, Müller, S, van Koningsbruggen, S, Abeck, D, Ring, J, Forer, I, Vogel, M, Fischer, S, Tichmann Schumann, I, Wörnle, R, Kiekens, H, Dolderer, R, von Berg, A, Albrecht, B, Bollrath, C, Pietroni, L, Bruschi, B, Armenio, L, Massagli, M, Brunetti, L, Fiermonte, P, Rana, M, Granieri, L, Lorè, M, Masi, M, Patriza, A, Specchia, F, Bigucci, B, Ricci, G, Miniachi, A, Duse, M, Porteri, V, Belotti, C, Barberio, G, Tiralongo, V, Vita, D, Feliciotto, R, Caminiti, L, Fiocchi, A, Sarratud, T, Terracciano, L, De Chiara, A, Capristo, A, Capristo, C, Maiello, N, Decimo, F, Rocco, A, Miraglia del Giudice, M, Marseglia, G, Lombardini, G, Ricci, A, Caimmi, S, Napoli, A, Tzialla, C, Ghiglione, V, Galli, E, Giampietro, P, Mancino, G, Arabito, E, Rossi, P, Chianca, M, Moschese, V, Chini, L, Swiatly, A, Szczawinska Popkonyl, A, Kulesza Kazecka, M, Cavagni, G, Spattini, A, Pastorelli, S, Messori, A, Boner, A, Fasoli, E, Romei, I, Alfonsi, L, Rijntjes, J, Sillevis Smitt, H, Van Nierop, J, Duiverman, E, Brouwer, M, Niewenhuis, A, Rottier, B, van der Heide, S, Oranje, A, Kemperman, P, Breedijk, T, de Waard van der Spek, F, Bruynzeel Komen, C, Pasmans, S, Meijer, Y, Flinterman, A, Kaczmarski, M, Cudowska, B, Wasilewska, J, Matuszfwska, E, Malaczynska, T, Klajna Kraluk, B, Sokalska, J, Masnica Wasylkowska, E, Biegun Awramineko, I, Chlon, M, Latos, T, Pomaranska, E, Gaszczyk, G, Makuch, B, Stanisz, J, Bokiej, J, Lis, G, Cichocka Jarosz, E, Glodzik, I, Szczerbinski, T, Chlebna Sokol, D, Stanczyk, A, Wlazlowski, J, Ligenza, I, Kamer, B, Pyziak, K, Pasowska, R, Zwaigzne Racynska, J, Emeryk, A, Milanowska, H, Zywicka, G, Bartkowiak Emeryk, M, Chojna, E, Alkiewicz, J, Breborowicz, A, Kurzawa, R, Wojcik, A, Jedrys Klucjasz, U, Urbanek Jozwik, E, Dymek, L, Dymek, A, Bozek, A, Chmielewska Szewczyk, D, Lange, J, Peradzynska, J, Kulus, M, Najberg, E, Nowicka, E, Chrupek, A, Boznanski, A, Willak Janc, E, Latkowska, A, Sikorska, E, Jarlinska, M, Eseverri Asin, J, Muñoz, E, Giner, M, Plaza, A, Piquer Gilbert, M, Díaz González, E, Martín, M, Sierra, J, Corzo, J, Rojas, E, Santos, R, Bosque Garcia, M, Valdesoiro, L, Asensio, O, Larramona, H, Nieto Garcia, A, Caballero, L, Pamies, R, Oliver, F, Evole, M, Mazón, A, Puterman, A, Morris, A, Vermeulen, J, Weber, H, Edson, R, Pollock, I, Postma, A, Minders, L, Jooma, O, Suleman, M, Vawda, Z, Mahomedy, S, Potter, P, Emmanuel, S, Marian, A, Hawarden, D, Motala, C, White, P, Reyneke, S, Havemann, W, Morison, A, Clarke, N, Clifford, R, Arshad, H, Pereira, D, Roberts, G, Hourihane, J, Foote, K, Sollis, M, De Benedictis F.M., Franceschini F., Hill D., Naspitz C., Simons F.E., Wahn U., Warner J.O., De Longueville M., Patrizi A., Masi M., Ricci G., Specchia F., Bigucci B., and Miniaci A.
Subjects: Male, Pediatrics, medicine.medical_specialty, Immunology, atopy, Immunoglobulin E, medicine.disease_cause, Global Health, sensitization, Dermatitis, Atopic, Allergic sensitization, Atopy, Cohort Studies, Allergen, medicine, otorhinolaryngologic diseases, Immunology and Allergy, Humans, Sensitization, Asthma, Settore MED/38 - Pediatria Generale e Specialistica, House dust mite, biology, business.industry, infants, Infant, Atopic dermatitis, Allergens, biology.organism_classification, medicine.disease, Dermatology, medicine.anatomical_structure, eczema, biology.protein, Female, business
Abstract: Background: No study has compared allergic sensitization patterns in infants with atopic eczema from different countries. The aim of this study was to investigate the patterns of allergic sensitization in a cohort of infants with atopic eczema participating in a multicentre, international study. Methods: Two thousand one hundred and eighty-four infants (mean age 17.6 months) with atopic eczema from allergic families were screened in 94 centres in 12 countries to participate in a randomized trial for the early prevention of asthma. Clinical history, Severity Scoring of Atopic Dermatitis Index, measurements for total serum IgE and specific IgE antibodies to eight food and inhalant allergens were entered into a database before randomization to treatment. A history of type of feeding in the first weeks of life and exposure to animals was recorded. Results: A total of 52.9% of the infants had raised total IgE, and 55.5% were sensitized to at least one allergen. There was a wide difference in the total IgE values and in the sensitization rates to foods and aeroallergens among infants from different countries. The highest prevalence rates of allergen-sensitized infants were found in Australia (83%), the UK (79%) and Italy (76%). Infants from Belgium and Poland consistently had the lowest sensitization rates. In each country, a characteristic pattern of sensitization was found for aeroallergens (house dust mite > cat > grass pollen > Alternaria), but not for food allergens. Conclusions: In infants with atopic eczema, there is a wide variation in the pattern of allergic sensitization between countries, and data from one country are not necessarily generalizable to other countries.
Published: 2009

31. Immunoglobulin therapy by intravenous: prospective multicenter surveillance of side effects

Author: Soresina, A., Rondelli, R., Quinti, I., Marzollo, R., Agostini, C., Spadaro, G., Martino, S., Pietrogrande, M. C., Putti, C., Maurizio Arico', Moschese, V., Consolini, R., Plebani, A., Pession, A., Ugazio, A. G., A., Soresina, R., Rondelli, I., Quinti, R., Marzollo, C., Agostini, Spadaro, Giuseppe, S., Martino, M. C., Pietrogrande, C., Putti, M., Arico, V., Moschese, R., Consolini, A., Plebani, A., Pession, and A. G., Ugazio
Subjects: Settore MED/38 - Pediatria Generale e Specialistica
Published: 2008

32. Intravenous immunoglobulin therapy: a prospective multicentric study monitoring adverse reactions

Author: Soresina, S. A., Rondelli, R., Quinti, I., Agostini, C., Spadaro, G., Martino, S., Pietrogrande, M. C., Putti, C., Maurizio Arico', Moschese, V., Consolini, R., Plebani, A., Pession, A., and Ugazio, A. G.
Subjects: Settore MED/38 - Pediatria Generale e Specialistica
Published: 2008

33. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency

Author: Quinti, I, Soresina, A, Spadaro, G, Martino, S, Donnanno, S, Agostini, C, Claudio, P, Franco, D, Pesce, A, Borghese, F, Guerra, A, Rondelli, R, Plebani, A, De Mattia, D, Martire, B, Cossu, F, Schirillo, G, Castagnola, E, Pietrogrande, M, Delle Piane, R, Putti, C, Trizzino, A, Amato, G, Bertolini, P, Zecca, M, Consolini, R, Moschese, V, Rossi, P, Cancrini, C, Cazzola, G, Quinti, I, Soresina, A, Spadaro, Giuseppe, Martino, S, Donnanno, S, Agostini, C, Claudio, P, Franco, D, MARIA PESCE, A, Borghese, F, Guerra, A, Rondelli, R, Plebani, A, ITALIAN PRIMARY IMMUNODEFICIENCY, Network, SORESINA A., SPADARO G, Pignata, Claudio, and Plebani, A.
Subjects: Adult, Male, Pediatrics, medicine.medical_specialty, clinical features, Time Factors, Adolescent, common variable immunodeficiency, Immunology, Immunoglobulins, intravenous immunoglobulins, chronic lung disease, Autoimmune Diseases, Cohort Studies, Age Distribution, Neoplasms, medicine, Immunology and Allergy, Humans, pneumonia, Sinusitis, Prospective cohort study, Child, Preschool, mortality, Aged, Settore MED/38 - Pediatria Generale e Specialistica, Respiratory tract infections, business.industry, Common variable immunodeficiency, Chronic sinusitis, Middle Aged, medicine.disease, Surgery, Survival Rate, Pneumonia, Treatment Outcome, Child, Preschool, Common Variable Immunodeficiency, Female, Follow-Up Studies, Immunotherapy, Cohort, business, Cohort study
Abstract: Common Variable Immunodeficiency belongs to the group of rare diseases encompassing antibody deficiency syndromes of highly variable clinical presentation and outcome. The multicenter prospective study on a cohort of 224 patients with Common Variable Immunodeficiency provides an updated view of the spectrum of illnesses which occurred at the clinical onset and over a long period of follow-up (mean time: 11 years) and information on the effects of long-term immunoglobulin treatment. The mean age at the time of diagnosis was 26.6 years. Seventy-five patients were younger than 14 years of age. The mean age at the onset of symptoms was 16.9 years. This implicates with a mean diagnostic delay of 8.9 years. Respiratory tract infections were the most prominent clinical problem observed at diagnosis and during the follow-up. Intravenous immunoglobulin administration induced a significant reduction in the incidence of acute infections, mainly acute pneumonia and acute otitis. However, a progressive increase in the prevalence of patients with chronic diseases, mainly sinusitis and lung disease, was observed in all age groups, including the pediatric population. The morbidity of Common Variable Immunodeficiency due to all associated clinical conditions increased over time despite an adequate replacement with intravenous immunoglobulins. Our data stressed the need to develop international guidelines for the prevention and therapy of chronic lung disease, chronic sinusitis, chronic diarrhoea, and chronic granulomatosis in patients with humoral immunodeficiencies.
Published: 2007

34. Definitive results of a multicentric prospective surveillance study of the collateral effects of the use of immunoglobulin by an intravenous route

Author: Soresina, A, Rondelli, R, Quinti, Isabella, Agostini, C, Spadaro, G, Marzollo, R, Martino, S, Pietrogrande, Mc, Putti, C, Trizzino, N, Moschese, V, Consolini, R, Pession, A, Ugazio, Ag, A., Soresina, R., Rondelli, I., Quinti, C., Agostini, Spadaro, Giuseppe, R., Marzollo, S., Martino, M. C., Pietrogrande, C., Putti, N., Trizzino, V., Moschese, R., Consolini, A., Pession, and A. G., Ugazio
Subjects: Settore MED/38 - Pediatria Generale e Specialistica
Published: 2007

35. Co-localization on human chromosome 1 of susceptibility loci for psoriasis (PSORS4) and atopic dermatitis (ATOD2) on human chromosome 1q21

Author: Giardina, E, Sinibaldi, C, Chinni, L, Moschese, V, Marulli, G, Provini, A, Rossi, P, Paradisi, M, Chimenti, S, Galli, E, Brunetti, E, Girolomoni, Giampiero, and Novelli, G.
Published: 2006

36. X-chromosome inactivation and mutation pattern in the Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia. Italian XLA Collaborative Group

Author: Moschese, V., Orlandi, P., Plebani, A., Arvanitidis, K., Fiorini, M., Speletas, M., Mella, P., Ritis, K., Sideras, P., ANDREA FINOCCHI, Livadiotti, S., and Rossi, P.
Subjects: Settore MED/38 - Pediatria Generale e Specialistica, Male, DNA, Complementary, X Chromosome, Genetic Linkage, Agammaglobulinemia, Humans, Protein-Tyrosine Kinases, Sequence Analysis, DNA, Polymerase Chain Reaction, Ribonucleases, Dosage Compensation, Genetic, Mutation, Female, DNA, Genetic, Complementary, hemic and lymphatic diseases, Dosage Compensation, Agammaglobulinaemia Tyrosine Kinase, Sequence Analysis, Research Article
Abstract: BACKGROUND: The diagnosis of X-linked agammaglobulinemia (XLA) is not always clearcut. Not all XLA conform to the classic phenotype and less than 50% of affected boys have a family history of immunodeficiency. Mutations in the gene for Bruton's tyrosine kinase (BTK) are responsible for the majority of agammaglobulinemia cases. However, a certain proportion of patients may have mutations involving other genes, although they show with an XLA phenotype. We performed BTK gene mutation analysis in 37 males with presumed XLA and analyzed the pattern of X-chromosome inactivation (XCI) in 31 mothers to evaluate the relevance of these approaches to diagnosis and genetic counseling. MATERIALS AND METHODS: Twenty affected males with a sporadic occurrence and 17 familial cases belonging to nine families were enrolled within the framework of the Italian Multicenter Clinical Study on XLA. We used non-isotopic RNase cleavage assay (NIRCA), followed by cDNA sequence determination to screen for BTK mutations and X-chromosome inactivation analysis for carrier detection. RESULTS: Using the cDNA-based approach, the identification of BTK gene abnormalities confirmed the clinical diagnosis of XLA in 31 of 37 affected infants. Missense was the most frequent mutational event and the kinase domain was mostly involved. In addition, nine novel mutations were identified. In sporadic cases, BTK gene abnormalities were identified in 9 out of 10 patients whose mothers had a nonrandom pattern of XCI and in 5 out of 6 patients whose mother had a random pattern of XCI. With the exception of one family, all patients with a familial occurrence and born to mothers with a nonrandom pattern of XCI had mutations of the BTK gene. CONCLUSIONS: Our findings indicate that in sporadic cases BTK gene sequencing is the only reliable tool for a definitive diagnosis of XLA and support XCI as the first diagnostic tool in the mothers of affected males in multiple generations. Furthermore, our molecular analysis confirms that 10-20% of BTK-unaltered patients have disorders caused by defects in other genes.
Published: 2000

37. X-chromosome inactivation and mutation pattern in the Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia

Author: Moschese, V., Orlandi, P., Plebani, A., Arvanitidis, K., Fiorini, M., Speletas, M., Mella, P., Ritis, K., Sideras, P., Finocchi, A., Livadiotti, S., Rossi, P., Duse, Marzia, and The Italian Xla Collaborative Group
Published: 2000

38. X-linked agammaglobulinemia (XLA): An Italian Multicenter Clinical Study

Author: Plebani, A, Baldassarre, M, Cardinale, F, Cazzola, G, De Mattia, D, Duse, M, Flore, M, Martino, S, Masi, M, Monafo, V, Pietrogrande, C, Pignata, C, Quinti, I, Ragno, V, Rossi, P, Stabile, A, and Moschese, V
Subjects: Clinical study, Settore MED/38 - Pediatria Generale e Specialistica, Pediatrics, medicine.medical_specialty, business.industry, Immunology, Medicine, X-linked agammaglobulinemia, business, medicine.disease, Molecular Biology
Published: 1998

39. T cell response and cytokines production after allergen stimulation in children allergic to cow’s milk protein

Author: Angelini, F, primary, Pacciani, V, additional, Corrente, S, additional, Monteferrario, E, additional, Romiti, ML, additional, Silenzi, R, additional, Moschese, V, additional, and Chini, L, additional
Published: 2013
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40. Detection of antibodies to Human Immunodeficiency virus type I by using synthetic peptides and Time Resolved fluoroimmunoassay (TR-FIA)

Author: 1. 9. LOMBARDI V. R. M., Libonatti, O, Ansotegui, I. J., Scarlatti, G., Moschese, V., Alimandi, Maurizio, Wigzell, H., and Rossi, P.
Published: 1992

41. Mother to child transmission of HIV-1 infection: epidemiological and experimental studies

Author: Moschese, V., Lombardi, V. R. M., Alimandi, Maurizio, Galli, E., and Rossi, P.
Published: 1991

42. MARKERS OF HIV-1 LATENT INFECTION IN AT RISK SERONEGATIVE CHILDREN BY PEPTIDE ELISA

Author: Moschese, V, Lombardi, Vrm, Alimandi, Maurizio, Fundarò, C, Tovo, Pa, Wahren, B, and AND ROSSI, P.
Published: 1990

43. Dimostrazione dell'infezione da HIV-1 nei bambini sieronegativi nati da madre infetta

Author: Rossi, P, Lombardi, Vrm, Fundarò, C, Moschese, V, Tovo, P, Alimandi, Maurizio, and ORBETELLO MAY, PALOMBA C. AND SEGNI G.
Published: 1990

44. Demostration of antiepitopic antibodies in seronegative children born to HIV-I infected mothers;

Author: Moschese, V, Alimandi, Maurizio, Lombardi, Vrm, Fundarò, C, Tovo, P, and LOS ANGELES USA, WAHREN B. AND ROSSI P.
Published: 1990

45. Markers of HIV-1 persistent infection in at risk HIV-1 seronegative children and adults by peptide-elisa

Author: Moschese, V, Lombardi, Vrm, Alimandi, Maurizio, Fundarò, C, and Wahren, B. AND ROSSI P.
Published: 1990

46. Antibody-dependent cellular cytotoxicity and neutralizing activity in sera of HIV-1-infected mothers and their children

Author: BROLIDEN, K, primary, SIEVERS, E, additional, TOVO, P A, additional, MOSCHESE, V, additional, SCARLATTI, G, additional, BROLIDEN, P A, additional, FUNDARO, C, additional, and ROSSI, P, additional
Published: 1993
Full Text: View/download PDF

47. Antibodies Mediating Cellular Cytotoxicity and Neutralization Correlate with a Better Clinical Stage in Children Born to Human Immunodeficiency Virus-Infected Mothers

Author: Ljunggren, K., primary, Moschese, V., additional, Broliden, P.-A., additional, Giaquinto, C., additional, Quinti, I., additional, Fenyo, E.-M., additional, Wahren, B., additional, Rossi, P., additional, and Jondal, M., additional
Published: 1990
Full Text: View/download PDF

48. Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian Primary Immunodeficiency Network centers (IPINet) and review of the literature

Author: Moschese, V., Martire, B., Soresina, A., Chini, L., Graziani, S., Monteferrario, E., Bacchetta, R., Cancrini, C., Fiorilli, M., Gambineri, E., Pession, A., Pignata, C., Quinti, I., Rondelli, R., PAOLO ROSSI, Ugazio, A. G., Plebani, A., Pietrogrande, M. C., Moschese, V., Martire, B., Soresina, A., Chini, L., Graziani, S., Monteferrario, E., Bacchetta, R., Cancrini, C., Fiorilli, M., Gambineri, E., Pession, A., Pignata, Claudio, Quinti, I., Rondelli, R., Rossi, P., Ugazio, A. G., Plebani, A., Pietrogrande, M. C., Moschese V, Martire B, Soresina A, Chini L, Graziani S, Monteferrario E, Bacchetta R, Cancrini C, Fiorilli M, Gambineri E, Pession A, Pignata C, Quinti I, Rondelli R, Rossi P, Ugazio AG, Plebani A, and Pietrogrande MC
Subjects: Settore MED/38 - Pediatria Generale e Specialistica, Humans, Granulomatous Disease, Chronic, X-Linked Combined Immunodeficiency Diseases, Antibiotic Prophylaxis, Immunologic Deficiency Syndromes, IgA Deficiency, DiGeorge Syndrome, Common Variable Immunodeficiency, CHRONIC GRANULOMATOUS-DISEASE, X-LINKED AGAMMAGLOBULINEMIA, WISKOTT-ALDRICH-SYNDROME, TERM-FOLLOW-UP, LARGE COHORT, CLINICAL IMMUNOLOGY, ANTIBODY DEFICIENCY, T-CELLS, PULMONARY, HYPOGAMMAGLOBULINEMIA, ipinet-aieop, primary immunodeficiencies, antimicrobial prophylaxis, infections, Granulomatous Disease, Chronic
Abstract: Primary immunodeficiencies (PIDs) are rare diseases characterized by an increased susceptibility to infections. Early diagnosis and appropriate treatment are critical for reducing morbidity and mortality. Based on available data, the efficacy of antibiotic administration for the prophylaxis of infections remains uncertain, and recommendations supporting this practice are poor. The use of antimicrobial prophylaxis is mainly based on single institution-specific experience without controlled measurements of patient safety and quality health outcomes. To address this issue an Italian Network on Primary Immunodeficiencies (IPINet) has been set up in 1999 within the Italian Association of Pediatric Hematology and Oncology (AIEOP) to increase the awareness of these disorders among physicians. Further, diagnostic and treatment guideline recommendations have been established to standardize the best clinical assistance to all patients, including antibiotic prophylaxis, and for a national epidemiologic monitoring of PIDs. The aim of this review is not only to give a scientific update on the use of antimicrobial prophylaxis in selected congenital immunological disorders but also to draw a picture of this practice in the context of the Italian Primary Immunodeficiency Network (IPINet). Controlled multicenter studies are necessary to establish if, when and how you should start an efficacious antimicrobial prophylaxis.

49. 'Aspetti diagnostici e clinici dell'infezione da HIV in pediatria'

Author: Moschese, V, Ragno, V, Alimandi, Maurizio, and AND ROSSI, P.
Published: 1987

50. Molecular Approaches To the Diagnosis of Hiv-i Infection In Seronegative Individuals At High-risk

Author: French, Deborah, Lombardi, W., Gemelli, V., Moschese, V., Rossi, P., Mirolo, M., Brasiello, S., Costantini, R. M., Manzari, V., and Frati, Luigi
Published: 1989

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