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Severe Combined Immune Deficiency

Reference work entry

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;...

Keywords

Newborn Screening Purine Nucleoside Phosphorylase Severe Combine Immune Deficiency Molecular Genetic Testing Omenn Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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