has material basis in germline mutation in ZNF341 hyper-IgE syndrome hyper-IgE recurrent infection syndrome 3, autosomal recessive https://github.com/monarch-initiative/mondo/issues/7844 https://www.malacards.org/card/hyper_ige_recurrent_infection_syndrome_3 https://www.malacards.org/card/hyper_ige_syndrome_3_autosomal_recessive_with_recurrent_infections Autosomal recessive HIES due to ZNF341 deficiency Orphanet:641368 UMLS:C4748969 autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency OMIM:618282 MEDGEN:1648483 DOID:0080595 HIES3 AR-HIES due to ZNF341 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 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. GARD:0025713 MONDO:0032654