Immunodeficiency 14 (APDS)

Immunodeficiency 14(来自ICD-11)
别称:
Activated Pi3k-Delta Syndrome
Senescent T-Cells-Lymphadenopathy-Immunodeficiency Syndrome Due to P110delta-Activating Mutation
Pasli Disease
Imd14
Apds
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Immunodeficiency 14, also known as activated pi3k-delta syndrome, is related to immunodeficiency 14a with lymphoproliferation, autosomal dominant and agammaglobulinemia. An important gene associated with Immunodeficiency 14 is PIK3CD (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta), and among its related pathways/superpathways are Innate Immune System and Infectious disease. The drugs Temsirolimus and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include t cells and b cells, and related phenotypes are recurrent respiratory infections and recurrent ear infections
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相关ID:
MESH:C585640

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MALACARDS
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