Pancytopenia due to IKZF1 mutations

Definition

Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene.

Also known as Cid due to IKAROS deficiency, combined immunodeficiency due to IKAROS deficiency, CVID13, IKZF1 syndrome with combined immunodeficiency, immunodeficiency, common variable, 13, immunodeficiency, common variable, type 13, syndrome with combined immunodeficiency caused by mutation in IKZF1 — per MONDO

Also identified as

• DOID 0081155 per MONDO
• OMIM 616873 per MONDO
• Orphanet 317473 per MONDO
• UMLS C4225173 per MONDO