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J Allergy Clin Immunol Pract ; 8(1): 273-282, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31377437


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.

Front Immunol ; 10: 1908, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31456805


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

Pediatr Pulmonol ; 50(12): 1184-90, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25470247


BACKGROUND: Data on the prevalence of hyperventilation syndrome (HVS) in adolescents are scanty. OBJECTIVES: To determine the prevalence of HVS in a population of adolescents with and without asthma, and to verify whether HVS was related to asthma activity. METHODS: A population of adolescents was asked to self-complete a questionnaire, including the Nijmegen questionnaire to assess HVS, and a standardized asthma questionnaire. RESULTS: Seven hundred and sixty questionnaires were suitable for analysis. One hundred and twenty subjects (15.8%) were classified as asthmatic. Forty-seven subjects (6.2%) had a Nijmegen score ≥ 23, which was suggestive of HVS. Symptoms indicative of HVS were ten times more common in subjects with asthma (25%) than in those without asthma (2.5%). Nijmegen score was significantly higher in subjects with lifetime asthma (P < 0.001), current episodic asthma (P < 0.05) and current active asthma (P < 0.001) than in those with no asthma. In the whole population, girls presented HVS more frequently than boys (P < 0.001). There was a significant effect of gender (females, OR 3.2) and status of asthma (lifetime asthma, OR 11.2; current episodic asthma, OR 8.9; current active asthma, OR 41.5) on the probability of suffering from HVS. CONCLUSIONS: The prevalence of symptoms indicative of HVS in an unselected population of adolescents was relatively high. Symptoms were more common in girls and in subjects with asthma, and there was a significant effect of asthma activity on the probability of suffering from HVS. Further studies need to be performed in order to validate a screening tool for HVS in both adolescents and asthmatic subjects.

Asma/complicações , Hiperventilação/complicações , Adolescente , Criança , Feminino , Humanos , Hiperventilação/diagnóstico , Masculino , Prevalência , Índice de Gravidade de Doença , Fatores Sexuais , Inquéritos e Questionários , Síndrome