Immunodeficiency 32b (IMD32B)

Alias:

Immunodeficiency 32b, Monocyte and Dendritic Cell Deficiency, Autosomal Recessive

Imd32b

Immunodeficiency 32b, Monocyte, Dendritic Cell, and Natural Killer Cell Deficiency, Autosomal Recessive

Chronic Epstein-Barr Virus Infection Syndrome

Irf8 Deficiency, Autosomal Recessive

Chronic Ebv Infection Syndrome

Caebv Syndrome

Monocyte and Dendritic Cell Deficiency, Autosomal Recessive

Epstein-Barr Virus, Susceptibility to Chronic Infection by

Autosomal Recessive Monocyte and Dendritic Cell Deficiency

Epstein-Barr Virus Chronic Infection by

Autosomal Recessive Irf8 Deficiency

Immunodeficiency, Type 32b

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Immunodeficiency 32b, also known as imd32b, is related to temporal arteritis and pharyngitis. An important gene associated with Immunodeficiency 32b is IRF8 (Interferon Regulatory Factor 8), and among its related pathways/superpathways are Validated targets of C-MYC transcriptional repression and Type II interferon signaling. Affiliated tissues include nk cells and monocytes, and related phenotypes are failure to thrive and cerebral calcification

Related ID：

MALACARDS：IMM138

OMIM：226990

MESH：D007153