Hyper-IgE recurrent infection syndrome 3, autosomal recessive

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 killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.

Also known as: AR-HIES due to ZNF341 deficiency, Autosomal recessive HIES due to ZNF341 deficiency, Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency, HIES3, autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency

42 clinical trials for this condition and its sub-types, 0 tagged with Hyper-IgE recurrent infection syndrome 3, autosomal recessive itself.