Combined immunodeficiency due to STIM1 deficiency

Definition

Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

Also known as CID due to STIM1 deficiency, immunodeficiency type 10 — per MONDO

Also identified as

• DOID 0111970 per MONDO
• MESH C557827 per MONDO
• OMIM 612783 per MONDO
• Orphanet 317430 per MONDO
• UMLS C2748557 per MONDO