Severe Combined Immune Deficiency
Severe combined immune deficiency (SCID) is a fatal, heterogeneous group of immune disorder, characterized by T-cell lymphopenia, a profound lack of cellular (T-cell) and humoral (B-cell) immunity, and, in some cases, decreased NK-cell number and function. All infants with SCID develop infections from both common and opportunistic pathogens because protection from maternal antibodies wanes early in life (Buckley et al. 1997; Friedrich et al. 2007). The incidence of SCID is estimated to be 1/100,000 live births, but this may be an underestimate due to some children dying before diagnosis or having unrecognized less severe disease (Stephan et al. 1993; Chan and Puck 2005; McGhee et al. 2005).
Synonyms and Related Disorders
Autosomal recessive SCID (Swiss-type agammaglobulinemia); Bare lymphocyte syndrome; Interleukin (IL)-2 deficient SCID; Janus-associated kinase 3 (JAK3) deficient SCID; Omenn syndrome; Purine nucleoside phosphorylase (PNP) deficient SCID; Reticular dysgenesis; SCID;...
KeywordsNewborn Screening Purine Nucleoside Phosphorylase Severe Combine Immune Deficiency Molecular Genetic Testing Omenn Syndrome
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