Combined Immunodeficiency Due to Dock8 Deficiency

Alias:

Dock8 Immunodeficiency Syndrome

Cid Due to Dock8 Deficiency

Combined Immunodeficiency Due to Dedicator of Cytokinesis 8 Protein Deficiency

Autosomal Recessive Hyper-Ige Syndrome

Dock8 Deficiency

Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive

Hyper Ige Recurrent Infection Syndrome, Autosomal Recessive

Hyper Immunoglobulin E Syndrome, Autosomal Recessive

Hyperimmunoglobulin E Syndrome Type 2

Non-Skeletal Hyper-Ige Syndrome

Autosomal Recessive Hies

Ar-Hies

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Combined Immunodeficiency Due to Dock8 Deficiency, also known as dock8 immunodeficiency syndrome, is related to hyper-ige syndrome 2, autosomal recessive, with recurrent infections and immunodeficiency 35. An important gene associated with Combined Immunodeficiency Due to Dock8 Deficiency is DOCK8 (Dedicator Of Cytokinesis 8), and among its related pathways/superpathways are Senescence and autophagy in cancer and Cytokine production by Th17 cells in CF (Mouse model). The drugs Fludarabine and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include skin and brain, and related phenotypes are chronic otitis media and recurrent respiratory infections

Related ID：

MALACARDS：CMB057