label: Severe Combined Immunodeficiency due to CD45 Deficiency
label_lc: severe combined immunodeficiency due to cd45 deficiency
description: "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."