Immunodeficiency 18 (IMD18)

Alias:

Immunodeficiency 18, Severe Combined Immunodeficiency Variant

Cd3-Epsilon Deficiency

Imd18

Immunodeficiency 18, Scid Variant

Cd3epsilon Deficiency

Immunodeficiency, Type 18

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Immunodeficiency 18, also known as cd3-epsilon deficiency, is related to precursor t-cell acute lymphoblastic leukemia and leukemia. An important gene associated with Immunodeficiency 18 is CD3E (CD3 Epsilon Subunit Of T-Cell Receptor Complex), and among its related pathways/superpathways are Phospholipase-C Pathway and Actin Nucleation by ARP-WASP Complex. Affiliated tissues include bone marrow and bone, and related phenotypes are defective t cell proliferation and lymphopenia

Related ID：

MALACARDS：IMM082

OMIM：615615

MESH：D007153