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Severe combined immunodeficiency—an update
Author(s) -
Cirillo Emilia,
Giardino Giuliana,
Gallo Vera,
D'Assante Roberta,
Grasso Fiorentino,
Romano Roberta,
Lillo Cristina Di,
Galasso Giovanni,
Pignata Claudio
Publication year - 2015
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/nyas.12849
Subject(s) - immunodeficiency , immune system , phenotype , primary immunodeficiency , severe combined immunodeficiency , immunology , clinical phenotype , medicine , biology , gene , genetics
Severe combined immunodeficiencies (SCIDs) are a group of inherited disorders responsible for severe dysfunctions of the immune system. These diseases are life‐threatening when the diagnosis is made too late; they are the most severe forms of primary immunodeficiency. SCID patients often die during the first two years of life if appropriate treatments to reconstitute their immune system are not undertaken. Conventionally, SCIDs are classified according either to the main pathway affected by the molecular defect or on the basis of the specific immunologic phenotype that reflects the stage where the blockage occurs during the differentiation process. However, during the last few years many new causative gene alterations have been associated with unusual clinical and immunological phenotypes. Many of these novel forms of SCID also show extra‐hematopoietic alterations, leading to complex phenotypes characterized by a functional impairment of several organs, which may lead to a considerable delay in the diagnosis. Here we review the biological and clinical features of SCIDs paying particular attention to the most recently identified forms and to their unusual or extra‐immunological clinical features.