Preferred Label : IL-7R-Alpha-deficient Severe Combined Immunodeficiency;
NCIt related terms : IL7R Deficiency; SCID, T-, normal B and NK cells, IL7R alpha deficiency;
NCIt definition : An autosomal recessive form of severe combined immunodeficiency characterized as T-cell
negative, B-cell positive, NK cell positive, and with mutations in the gene encoding
interleukin-7 receptor alpha chain protein. This class of SCID accounts for approximately
10% of all SCID cases.;
NCI Metathesaurus CUI : CL1926477;
Origin ID : C203825;
UMLS CUI : C5909448;
Semantic type(s)
- disease_mapped_to_gene
- disease_may_have_associated_disease
