" /> Severe Combined Immunodeficiency due to CD45 Deficiency - CISMeF





Preferred Label : Severe Combined Immunodeficiency due to CD45 Deficiency;

NCIt synonyms : Severe Combined Immunodeficiency, T cell-Negative, B-cell/Natural Killer Cell Positive, PTPRC; SCID-PTPRC;

NCIt related terms : CD45 Deficiency;

NCIt 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.;

NCI Metathesaurus CUI : CL1642666;

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29/07/2025


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