Immunodeficiency 16 (IMD16)

Alias:

Combined Immunodeficiency Due to Ox40 Deficiency

Ox40 Deficiency

Imd16

Combined Immunodeficiency with Impaired Immunity to Human Herpes Virus 8

Combined Immunodeficiency with Childhood-Onset Kaposi Sarcoma

Combined Immunodeficiency with Impaired Immunity to Hhv-8

Immunodeficiency, Type 16

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Immunodeficiency 16, also known as combined immunodeficiency due to ox40 deficiency, is related to mixed oligodendroglioma-astrocytoma and blepharoconjunctivitis. An important gene associated with Immunodeficiency 16 is TNFRSF4 (TNF Receptor Superfamily Member 4), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. Affiliated tissues include b cells and bone marrow, and related phenotypes are kaposi's sarcoma and splenomegaly

Related ID：

MALACARDS：IMM074

OMIM：615593

MESH：D007153