Combined immunodeficiency due to ORAI1 deficiency

Definition

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

Also known as CID due to ORAI1 deficiency, immunodeficiency type 9 — per MONDO

Also identified as

• DOID 0111976 per MONDO
• MESH C557826 per MONDO
• OMIM 612782 per MONDO
• Orphanet 317428 per MONDO
• UMLS C2748568 per MONDO