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Results: 2

1.

X-Linked Severe Combined Immunodeficiency

MedGen UID:
444080
Concept ID:
C2931540
Disease or Syndrome
2.

X-linked severe combined immunodeficiency

X-linked severe combined immunodeficiency (X-SCID) is a combined cellular and humoral immunodeficiency caused by mutations in IL2RG. In typical X-SCID lack of IL2RG function results in near complete absence of T and natural killer (NK) lymphocytes and nonfunctional B lymphocytes. X-SCID is almost universally fatal in the first two years of life unless reconstitution of the immune system is achieved through bone marrow transplant or gene therapy. In the absence of family history of X-SCID and prior to newborn screening for X-SCID, most males with typical X-SCID come to medical attention between ages three and six months. During the first year of life nearly all untreated males with X-SCID exhibit failure to thrive, oral/diaper candidiasis, absent tonsils and lymph nodes, recurrent infections, infections with opportunistic organisms such as Pneumocystis, and persistence of infections despite conventional treatment. Additional common features include rashes, diarrhea, cough and congestion, fevers, pneumonia, sepsis, and other severe bacterial infections. Males with atypical X-SCID may have immune dysregulation and autoimmunity associated with rashes, gastrointestinal malabsorption, and short stature. [from GeneReviews]

MedGen UID:
220906
Concept ID:
C1279481
Disease or Syndrome

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