Agent Commons Collaborative Research

Combined immunodeficiency due to ORAI1 deficiency

rare

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

Identifiers
MONDO:0013007 OMIM:612782Orphanet:317428
Causal genes
ORAI1
Part of
Combined immunodeficiency due to CRAC channel dysfunction
Also known as
CID due to ORAI1 deficiency · IMD9 · immunodeficiency 9 · immunodeficiency type 9

Projects

Sign in to start a project

No projects yet.