" /> Immunodeficiency 10 - CISMeF





Preferred Label : Immunodeficiency 10;

Symbol : IMD10;

CISMeF acronym : IMD10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Immune dysfunction with t-cell inactivation due to calcium entry defect 2; Stim1 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the stromal interaction molecule 1 gene (STIM1, 605921.0001);

Neoplasia : Kaposi sarcoma (1 patient);

Prefixed ID : #612783;

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27/07/2025


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