hyper-IgE recurrent infection syndrome 3, autosomal recessive

Rare Disease

MONDO:0032654

Also known as:

AR-HIES due to ZNF341 deficiencyAutosomal recessive HIES due to ZNF341 deficiencyAutosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency

A rare hyper-IgE syndrome characterized by atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural ki...

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