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GENATLAS PHENOTYPE

last update : 08-04-2015

Symbol	SCIDX1
Location	Xq13.1
HGNC id	1978
Name	severe combined immunodeficiency, X-linked 1
Other name(s)	severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-negative immunodeficiency 4
Corresponding gene	IL2RG
Other symbol(s)	agst, IMD4, XSCID, CIDX
Main clinical features	with thymic epithelial hypoplasia, lack of T and NK cells and normal B cells (T-B+NK-), agammaglobulinemia, Swiss type presence of lymphocytopenia ('alymphocytosis'), early age at death, vulnerability to viral and fungal as well as bacterial infections, lack of delayed hypersensitivity, atrophy of the thymus, and lack of benefit from gamma globulin administration
Genetic determination	sex linked
Function/system disorder	defense and immunity
Type	disease

Gene product

Name	interleukin 2 receptor gamma chain (IL2RG)

Remark(s)