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.
MONDO:0018037
hyper-IgE syndrome
is_a
AR-HIES due to ZNF341 deficiency
exact
Autosomal recessive HIES due to ZNF341 deficiency
exact
Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency
exact
HIES3
exact
autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
exact