Combined immunodeficiency due to STIM1 deficiency
MONDO:0013008Aform 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.
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Disease
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Hereditary disease
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Immune system disorder
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Immunodeficiency disease
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Human disease
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Combined immunodeficiency
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Disease of genetic or genomic mechanism
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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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