Immunodeficiency 10 (IMD10)

Alias:

Immune Dysfunction with T-Cell Inactivation Due to Calcium Entry Defect 2

Combined Immunodeficiency Due to Stim1 Deficiency

Cid Due to Stim1 Deficiency

Stim1 Deficiency

Imd10

Immune Dysfunction, with T-Cell Inactivation Due to Calcium Entry Defect 2

Immunodeficiency, Type 10

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Immunodeficiency 10, also known as immune dysfunction with t-cell inactivation due to calcium entry defect 2, is related to myopathy, tubular aggregate, 1 and stormorken syndrome. An important gene associated with Immunodeficiency 10 is STIM1 (Stromal Interaction Molecule 1), and among its related pathways/superpathways are CREB Pathway and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include t cells and bone marrow, and related phenotypes are kaposi's sarcoma and hypotonia

Related ID：

MALACARDS：IMM065

OMIM：612783

MESH：C557827