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Combined immunodeficiency due to ORAI1 deficiency

MONDO:0013007

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, IMD9, immune dysfunction with T-cell inactivation due to calcium entry defect 1, immunodeficiency 9

1 clinical trial for this condition and its sub-types, 0 tagged with Combined immunodeficiency due to ORAI1 deficiency itself.

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