Immunodeficiency, common variable, 12

Definition

Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene.

Also known as common variable immunodeficiency caused by mutation in NFKB1, immunodeficiency, common variable, 12, immunodeficiency, common variable, type 12, NFKB1 common variable immunodeficiency — per MONDO

Also identified as

• DOID 0081154 per MONDO
• OMIM 616576 per MONDO
• Orphanet 696874 per MONDO
• UMLS C4225277 per MONDO