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combined immunodeficiency due to ORAI1 deficiency

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.
Uniprot Description An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, and normal lymphocytes counts and serum immunoglobulin levels. In surviving patients ectodermal dysplasia with anhidrosis and non-progressive myopathy may be observed.
Mondo Term and Equivalent IDs
MONDO:0013007:  combined immunodeficiency due to ORAI1 deficiency
GARD:0010524: 
MESH:C557826: 
Orphanet:317428: 
UMLS:C2748568: