Hyper-Ige Syndrome 4b, Autosomal Recessive, with Recurrent Infections (HIES4B)

Alias:

Hyper-Ige Recurrent Infection Syndrome 4b, Autosomal Recessive

Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive

Hies4b

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Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hyper-Ige Syndrome 4b, Autosomal Recessive, with Recurrent Infections, is also known as hyper-ige recurrent infection syndrome 4b, autosomal recessive. An important gene associated with Hyper-Ige Syndrome 4b, Autosomal Recessive, with Recurrent Infections is IL6ST (Interleukin 6 Cytokine Family Signal Transducer). Affiliated tissues include eye and skin, and related phenotypes are scoliosis and macroglossia

Related ID：

MALACARDS：HYP914

OMIM：618523

MESH：D007589