{"orpha":2314,"name":"Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AD-HIES due to STAT3 deficiency","Autosomal dominant HIES due to STAT3 deficiency","Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency","Buckley syndrome","Job syndrome"],"definition":"A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2314/","orphanet_url":"https://www.orpha.net/en/disease/detail/2314","names":{"fr":{"name":"Syndrome hyper-IgE autosomique dominant par déficit en STAT3","synonyms":["AD-HIES par déficit en STAT3","HIES autosomique dominant par déficit en STAT3","Syndrome d'hyperimmunoglobuline E autosomique dominant par déficit en signal transducer and activator of transcription 3","Syndrome de Buckley","Syndrome de Job"],"definition":"Le syndrome hyper-IgE autosomique dominant (AD-HIES) est une immunodéficience primaire très rare caractérisée par une triade de signes cliniques incluant des niveaux sériques d'IgE élevés (> 2000 UI/ml), des abcès cutanés récidivants à staphylocoques, et une pneumonie récidivante, avec formation de pneumatocèles."},"de":{"name":"Hyper-IgE-Syndrom, autosomal-dominantes, durch STAT3-Mangel","synonyms":["AD-HIES durch STAT3-Defizienz","Buckley-Syndrom","Job-Syndrom","STAT3-HIES","STAT3-Hyper-IgE-Syndrom"],"definition":"Das Autosomal-dominante Hyper-IgE-Syndrom (AD-HIES) ist ein sehr seltener primärer Immundefekt und klinisch gekennzeichnet durch die Trias hohes Serum-IGE (>2000 IU/ml), rezidivierende Staphylokokken-Hautabszesse und rezidivierende Pneumonien mit Bildung von Pneumatozelen."},"es":{"name":"Síndrome de hiper-IgE autosómico dominante por deficiencia de STAT3","synonyms":["SHIE autosómico dominante por deficiencia de STAT3","Síndrome de Buckley","Síndrome de Job","Síndrome de hiperinmunoglobulina E autosómico dominante por deficiencia de la proteína transductora de señal y activadora de la transcripción 3"],"definition":"Es una inmunodeficiencia primaria extremadamente poco frecuente caracterizada por la tríada clínica de IgE sérica elevada (> 2000 UI/ml), abscesos estafilocócicos cutáneos recurrentes y neumonía recurrente con formación de neumatoceles."},"it":{"name":"Sindrome da iper-IgE autosomica dominante da deficit di STAT3","synonyms":["AD-HIES da deficit di STAT3","HIES autosomica dominante da deficit di STAT3","Sindrome da iperimmunoglobulinemia E autosomica dominante da deficit della proteina trasduttore del segnale e attivatore della trascrizione 3","Sindrome di Buckley","Sindrome di Job"],"definition":"La sindrome da iper-IgE autosomica dominante (AD-HIES) è un'immunodeficienza primitiva molto rara caratterizzata dalla triade clinica: livelli elevati di IgE nel siero (>2000 IU/ml), ascessi cutanei ricorrenti da stafilococco e polmonite ricorrente associata alla formazione di pneumatoceli."},"nl":{"name":"Autosomaal dominant hyper-IgE-syndroom door STAT3-deficiëntie","synonyms":["AD-HIES door STAT3-deficiëntie","Autosomaal dominant HIES door STAT3-deficiëntie","Autosomaal dominant hyperimmunoglobuline E-syndroom door deficiëntie van signaaltransductor en -activator van transcriptie 3-proteïne"],"definition":"Een zeer zeldzame, primaire immuundeficiëntie, gekarakteriseerd door de klinische triade van hoog serumgehalte van IgE (>2000 IU/ml), recurrente stafylokokken-huidabcessen, en recurrente pneumonie met vorming van pneumatokèles."},"pt":{"name":"Síndrome de hiper-IgE autossómica dominante por deficiência de STAT3","synonyms":["HIES autossómica dominante por deficiência de STAT3","HIES-AD por deficiência de STAT3","Síndrome Buckley","Síndrome Job","Síndrome de hiperimunoglobulina E autossómica dominante por deficiência do transdutor de sinal e ativador da proteína de transcrição 3","Síndrome de hiperimunoglobulinemia E-infeções recorrentes","Síndrome de hiperímunoglobulinemia tipo 1"],"definition":"Imunodeficiência primária muito rara caracterizada pela tríade clínica de altos níveis séricos de IgE (>2000 IU/ml), abscessos cutâneos recorrentes por staphylococus, e pneumonia recorrente com formação de pneumatocelos."},"pl":{"name":"Autosomalnie dominujący zespół hiper-IgE","synonyms":["AD-HIES","Autosomalnie dominujący HIES","Autosomalnie dominujący zespół hiperimmunoglobuliny E","Niedobór STAT3","Zespół Buckley'a","Zespół hiperimmunoglobuliny E i nawracających infekcji","Zespół hiperimmunoglobuliny E typu 1","Zespół Joba"]},"cs":{"name":"Hyper-IgE syndrom, autozomálně-dominantní","synonyms":["AD-HIES","Buckleyové syndrom","Hyperimunoglobulin E syndrom, typ 1","Hyperimunoglobulin E syndrom s rekurentními infekcemi, typ 1","Deficit STAT3","Autozomálně dominantní HIES","Jobův syndrom"]},"uk":{"name":"Аутосомно-домінантний синдром гіпер-IgE, зумовлений дефіцитом STAT3","synonyms":["AD-HIES внаслідок дефіциту STAT3","Аутосомно-домінантна ГІЕС внаслідок дефіциту STAT3","Аутосомно-домінантний синдром гіперімуноглобуліну Е, зумовлений дефіцитом білка трансдуктора сигналу та активатора транскрипції 3","Синдром Баклі","Синдром Джоба"],"definition":"A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles."},"zh":{"name":"常染色体显性高IgE综合征","synonyms":["高IgE-反复感染综合征"]},"tr":{"name":"Otozomal dominant hiper-IgE sendromu","synonyms":["AD-HIES","Job sendromu","Buckley sendromu","STAT3 eksikliği","Otozomal dominant HIES","Hiperimmünoglobulin E sendromu tip 1","Otozomal dominant hiperimmünoglobulin E sendromu","Hiperimmünoglobulin E-tekrarlayan enfeksiyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"147060","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":"1561846514"},{"source":"MONDO","code":"0007818","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007589","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2936739","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6800","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":"STAT3","name":"signal transducer and activator of transcription 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17881745[PMID]_17676033[PMID]","hgnc":"11364","ensembl":"ENSG00000168610","omim":"102582","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-16","source":"20301786[PMID]_30247822[PMID]","terms":[{"hpo":"HP:0100750","label":"Atelectasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002728","label":"Chronic mucocutaneous candidiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031292","label":"Cutaneous abscess","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000703","label":"Dentinogenesis imperfecta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008391","label":"Dystrophic fingernails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000230","label":"Gingivitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031690","label":"Opportunistic infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001818","label":"Paronychia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025419","label":"Pulmonary pneumatocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002726","label":"Recurrent Staphylococcus aureus infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001114","label":"Xanthelasma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100658","label":"Cellulitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007099","label":"Chiari type I malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002617","label":"Dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200037","label":"Skin vesicle","frequency":"Occasional (29-5%)","criteria":null}]}}