Combined immunodeficiency due to ORAI1 deficiency
MONDO:0013007A 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.
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Disease
(647)
Hereditary disease
(176)
Immune system disorder
(142)
Immunodeficiency disease
(50)
Human disease
(14)
Combined immunodeficiency
(3)
Disease of genetic or genomic mechanism
(2)
Combined immunodeficiency due to CRAC channel dysfunction
(1)
Disease by body system or component
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Disease by etiologic mechanism
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