Severe Combined Immunodeficiency due to CD45 Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the PTPRC (CD45) gene, encoding receptor-type tyrosine-protein phosphatase C. It is characterized by severe combined immunodeficiency that is T-cell negative, B-cell positive, and NK cell positive.

**Synonyms:** - CD45 Deficiency - SCID-PTPRC - Severe Combined Immunodeficiency, T cell-Negative, B-cell/Natural Killer Cell Positive, PTPRC