JAK3-deficient Severe Combined Immunodeficiency

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive severe combined immunodeficiency caused by mutation(s) in the JAK3 gene, encoding tyrosine-protein kinase JAK3. It is characterized by decreased concentrations of T-cells and NK-cells and normal concentrations of B-cells.

**Synonyms:** - Autosomal Recessive T cell-negative, B cell-positive, NK cell-negative Severe Combined Immunodeficiency - Autosomal Recessive T-B+NK- SCID - JAK3 Deficiency - JAK3 SCID - JAK3 deficiency - Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Positive, NK-Cell Negative - T cell-negative, B cell-positive, NK cell-negative SCID - T- B+ NK-, JAK3 mutation - T-B+ Severe Combined Immunodeficiency due to JAK3 deficiency