Immunodeficiency 40 (IMD40)

Alias:

Dock2 Deficiency

Imd40

Immunodeficiency, Type 40

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Immunodeficiency 40, also known as dock2 deficiency, is related to lymphopenia and omenn syndrome. An important gene associated with Immunodeficiency 40 is DOCK2 (Dedicator Of Cytokinesis 2), and among its related pathways/superpathways are Signal Transduction and Signaling by Rho GTPases. Affiliated tissues include bone marrow and bone, and related phenotypes are t lymphocytopenia and recurrent pneumonia

Related ID：

MALACARDS：IMM120

OMIM：616433

MESH：D016511