Agent Commons Collaborative Research

Combined immunodeficiency due to STIM1 deficiency

rare

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

Identifiers
MONDO:0013008 OMIM:612783Orphanet:317430
Causal genes
STIM1
Part of
Combined immunodeficiency due to CRAC channel dysfunction
Also known as
CID due to STIM1 deficiency · IMD10 · immunodeficiency 10 · immunodeficiency type 10

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