Hyper-Ige Syndrome 2, Autosomal Recessive, with Recurrent Infections (HIES2)

Alias:

Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive

Hies2

Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

Hyper-Ige Recurrent Infection Syndrome Autosomal Recessive

Combined Immunodeficiency Due to Dock8 Deficiency

Hyper-Ige Syndrome, Autosomal Recessive

Hyper-Ige Syndrome Autosomal Recessive

Hyperimmunoglobulin E Syndrome Type 2

Nonskeletal Hyper Ige Syndrome

Hies, Autosomal Recessive

Hies Autosomal Recessive

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Gene & Mutation

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Hyper-Ige Syndrome 2, Autosomal Recessive, with Recurrent Infections, also known as hyper-ige recurrent infection syndrome 2, autosomal recessive, is related to combined immunodeficiency due to dock8 deficiency and immune deficiency disease. An important gene associated with Hyper-Ige Syndrome 2, Autosomal Recessive, with Recurrent Infections is DOCK8 (Dedicator Of Cytokinesis 8). Affiliated tissues include skin and t cells, and related phenotypes are decreased circulating total igm and recurrent bacterial infections

Related ID：

MALACARDS：HYP912

OMIM：243700

MESH：D007589