Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive severe combined immunodeficiency, the phenotype of which is caused by mutation(s) in the IL7R or PTPRC genes, encoding interleukin-7 receptor subunit alpha and receptor-type tyrosine-protein phosphatase C (CD45) respectively.