Combined immunodeficiency due to STIM1 deficiency

MONDO:0013008

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, IMD10, STIM1 deficiency, immune dysfunction with T-cell inactivation due to calcium entry defect 2, immunodeficiency 10

1 clinical trial for this condition and its sub-types, 0 tagged with Combined immunodeficiency due to STIM1 deficiency itself.

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