IL-7R-Alpha-deficient Severe Combined Immunodeficiency

**Semantic type:** Disease or Syndrome

**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.

**Synonyms:** - IL7R Deficiency - SCID, T-, normal B and NK cells, IL7R alpha deficiency