![]() 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. Pre-treatment mortality was higher in atypical and syndromic patients. Fifty-three percent had an atypical phenotype and most of them exhibited a discordant genotype-immunophenotype. ![]() Eight percent of the subjects were diagnosed in Intensive Care Units. Syndromic SCIDs represented 28% of the cohort. SCID patients with later onset were identified only in the last decade of observation. A positive relationship between the age at onset and the DD was found. Patients were subsequently classified based on the genetic alteration, pathogenic mechanism and immunological classification. One hundred eleven patients, diagnosed as typical or atypical SCID according to the European Society for Immune Deficiencies criteria, were included. To this purpose, we conducted a 30-year retro-prospective multicenter study within the Italian Primary Immunodeficiency Network. 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. 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). Severe combined immunodeficiencies (SCIDs) are a group of inborn errors of the immune system, usually associated with severe or life-threatening infections. 16Department of Pediatric Hematology and Oncology, Bambino Gesù Children's Hospital, Rome, Italy.Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, and ASST Spedali Civili, Brescia, Italy Nocivelli, University of Brescia, Brescia, Italy ![]()
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