" /> Hyper-ige syndrome 5, autosomal recessive, with recurrent infections - CISMeF





Preferred Label : Hyper-ige syndrome 5, autosomal recessive, with recurrent infections;

Symbol : HIES5;

CISMeF acronym : HIES5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyper-ige recurrent infection syndrome 5, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interleukin 6 receptor gene (IL6R, 147880.0002);

Prefixed ID : #618944;

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25/07/2025


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