Combined immunodeficiency due to STIM1 deficiency
Synonyms: CID due to STIM1 deficiency
Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections autoimmunity congenital myopathy and ectodermal dysplasia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Combined immunodeficiency due to STIM1 deficiency?
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Clinical Trials
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