{"orpha":641368,"name":"Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["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"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-641368/","orphanet_url":"https://www.orpha.net/en/disease/detail/641368","names":{"fr":{"name":"Syndrome hyper-IgE autosomique récessif par déficit en ZNF341","synonyms":["AR-HIES par déficit en ZNF341","HIES autosomique récessif par déficit en ZNF341","Syndrome d'hyperimmunoglobuline E autosomique récessif par déficit en zinc finger protein 341"],"definition":"Syndrome rare d'hyper-IgE caractérisé par une dermatite atopique (eczéma), une candidose cutanéo-muqueuse chronique et des taux élevés d'IgE dus à un déficit en ZNF341. On observe des taux plasmatiques élevés d'IgG et faibles de cellules tueuses naturelles (NK). Les autres signes cliniques majeurs sont les infections cutanées récurrentes avec abcès cutanés et anomalies du tissu conjonctif. Certains patients peuvent présenter des infections pulmonaires récurrentes."},"de":{"name":"Hyper IgE-Syndrom, autosomal-rezessives, durch ZNF341-Mangel","synonyms":["AR-HIES durch ZNF341-Defizienz","Autosomal-rezessives HIES aufgrund von ZNF341-Mangel","ZNF341-HIES"],"definition":"Ein seltenes Hyper-IgE-Syndrom, das durch atopische Dermatitis (Ekzem), chronische mukokutane Candidose und erhöhte IgE-Werte aufgrund eines ZNF341-Mangels gekennzeichnet ist. Es werden hohe IgG-Plasmaspiegel und eine geringe Anzahl natürlicher Killerzellen (NK) beobachtet. Weitere wichtige klinische Merkmale sind wiederkehrende Hautinfektionen mit Hautabszessen und Bindegewebsanomalien. Bei einigen Patienten können auch rezidivierende Lungeninfektionen auftreten."},"es":{"name":"Síndrome de hiper-IgE autosómico recesivo por deficiencia de ZNF341","synonyms":["SHIE autosómico recesivo por deficiencia de ZNF341","SHIE-AR por deficiencia de ZNF341","Síndrome de hiperinmunoglobulina E autosómico recesivo por deficiencia de proteína 341 de dedo de zinc"],"definition":"Es un síndrome poco frecuente de hiper-IgE caracterizado por dermatitis atópica (eccema), candidiasis mucocutánea crónica y niveles elevados de IgE por deficiencia de <i>ZNF341</i>. Los pacientes presentan niveles séricos elevados de IgG y un conteo bajo de células asesinas naturales (NK). Otras características clínicas importantes son las infecciones cutáneas recurrentes con abscesos cutáneos y alteraciones del tejido conectivo. Algunos pacientes experimentan infecciones pulmonares recurrentes."},"it":{"name":"Sindrome da iper-IgE autosomica recessiva da deficit di ZNF341","synonyms":["AR-HIES da deficit di ZNF341","HIES autosomica recessiva da deficit di ZNF341","Sindrome da iperimmunoglobulinemia E autosomica recessiva da deficit della proteina a dito di zinco 341"]},"nl":{"name":"Autosomaal recessief hyper-IgE-syndroom door ZNF341-deficiëntie","synonyms":["AR-HIES door ZNF341-deficiëntie","Autosomaal recessief HIES door ZNF341-deficiëntie","Autosomaal recessief hyperimmunoglobuline-E-syndroom door deficiëntie van zinkvingerproteïne 341"],"definition":"Een zeldzaam hyper-IgE-syndroom, gekenmerkt door atopische dermatitis (eczeem), chronische mucocutane candidiasis, en verhoogde IgE-gehaltes door ZNF341-deficiëntie. Er worden hoge plasmagehaltes van IgG en een laag aantal 'natural killer' (NK)-cellen waargenomen. Andere belangrijke klinische kenmerken zijn recidiverende huidinfecties met huidabcessen en afwijkingen van bindweefsel. Sommige patiënten hebben mogelijk recidiverende longinfecties."},"pt":{"name":"Síndrome de hiper-IgE autossómica recessiva por deficiência de ZNF341","synonyms":["HIES autossómica recessiva por deficiência de ZNF341","HIES-AR por deficiência de ZNF341","Síndrome de hiperimunoglobulina E autossómica recessiva por deficiência da proteina zinc finger 341"],"definition":"Síndrome rara de hiper-IgE caracterizada por dermatite atópica (eczema), candidíase mucocutânea crónica e níveis elevados de IgE devido à deficiência de ZNF341. Altos níveis plasmáticos de IgG e baixos números de células natural killer (NK) são observados. Outras características clínicas importantes envolvem infeções recorrentes da pele com abcessos na pele e anomalias do tecido conjuntivo. Alguns doentes podem ter infeções pulmonares recorrentes."},"pl":{"name":"Autosomalny recesywny zespół hiper-IgE z powodu niedoboru ZNF341","synonyms":["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"],"definition":"Rzadki zespół hiper-IgE charakteryzujący się atopowym zapaleniem skóry (wypryskiem), przewlekłą drożdżycą błon śluzowych i skóry i podwyższonym poziomem IgE z powodu niedoboru ZNF341. Obserwuje się wysokie poziomy IgG w osoczu i niską liczbę komórek NK (natural killer). Inne objawy kliniczne to nawracające infekcje skóry z powstawaniem ropni oraz nieprawidłowości tkanki łącznej. U niektórych pacjentów mogą występować nawracające infekcje płuc."},"cs":{"name":"Autozomálně recesivní hyper-IgE syndrom způsobený deficitem ZNF341","synonyms":["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"]},"uk":{"name":"Аутосомно-рецесивний синдром гіпер-IgE, зумовлений дефіцитом ZNF341","synonyms":["AR-HIES через дефіцит ZNF341","Аутосомно-рецесивна HIES, зумовлена дефіцитом ZNF341","Аутосомно-рецесивний синдром гіперімуноглобуліну Е, зумовлений дефіцитом білка цинкового пальця 341"],"definition":"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."}},"xrefs":[{"source":"OMIM","code":"618282","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.34","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1909398175"},{"source":"MONDO","code":"0957426","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"32654","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"957426","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5924853","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":169446,"name":"OBSOLETE: Autosomal recessive hyper-IgE syndrome","status":"inactive"}],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183494,"name":"Genetic immune deficiency with skin involvement","classifications":[156]},{"orpha":331223,"name":"Hyper-IgE syndrome","classifications":[156,195]},{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]}],"children":[],"genes":[{"symbol":"ZNF341","name":"zinc finger protein 341","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30264496[PMID]","hgnc":"15992","ensembl":"ENSG00000131061","omim":"618269","loci":["20q11.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":61.0,"area":"Worldwide","status":"Validated","source":"30264496[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30264496[PMID]_ORPHANET"}],"phenotypes":null}