Immunodeficiency 14a with Lymphoproliferation, Autosomal Dominant (IMD14A)

Alias:

Activated Pi3k-Delta Syndrome

Apds

Immunodeficiency 14

Pasli

Senescent T-Cells-Lymphadenopathy-Immunodeficiency Syndrome Due to P110delta-Activating Mutation

P110-Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency

Imd14a

P110δ-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency

Activated Pi3k-Delta Immunodeficiency Syndrome

Immunodeficiency 14a, Autosomal Dominant

Activated Pi3k Delta Syndrome

Immunodeficiency 36

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Immunodeficiency 14a with Lymphoproliferation, Autosomal Dominant, also known as activated pi3k-delta syndrome, is related to immunodeficiency 36 with lymphoproliferation and immunodeficiency 14. An important gene associated with Immunodeficiency 14a with Lymphoproliferation, Autosomal Dominant is PIK3CD (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta), and among its related pathways/superpathways are PIP3 activates AKT signaling and PI3K-Akt signaling pathway. 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 pneumonia and recurrent upper and lower respiratory tract infections

Related ID：

MALACARDS：IMM282

OMIM：615513

MESH：D007153