{"orpha":331226,"name":"Susceptibility to infection due to TYK2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-331226/","orphanet_url":"https://www.orpha.net/en/disease/detail/331226","names":{"fr":{"name":"Susceptibilité aux infections par déficit en TYK2","definition":"Déficit immunitaire primaire rare caractérisé par une sensibilité accrue aux infections bactériennes et virales intracellulaires, avec ou sans augmentation du taux d'IgE sériques. Les manifestations cliniques varient considérablement en fonction du type et de la localisation de l'infection, et peuvent inclure, de manière récurrente, des otites, des sinusites, des infections pulmonaires et cutanées, des méningites et des abcès internes."},"de":{"name":"Suszeptibilität für Infektionen durch TYK2-Mangel","synonyms":["Hyper IgE-Syndrom, autosomal-rezessives, durch TYK2-Mangel"]},"es":{"name":"Susceptibilidad a infecciones por deficiencia de TYK2","definition":"La susceptibilidad a infecciones por deficiencia de TYK2 es una inmunodeficiencia primaria poco frecuente caracterizada por una mayor susceptibilidad a infecciones víricas y bacterianas intracelulares, con o sin aumento de IgE en suero. Las manifestaciones clínicas son muy variables, según el tipo de infección y la ubicación, y pueden incluir otitis recurrente, sinusitis, infecciones pulmonares y cutáneas, meningitis y abscesos internos."},"it":{"name":"Suscettibilità alle infezioni da deficit di TYK2","definition":"La suscettibilità alle infezioni da deficit di TYK2 è un'immunodeficienza primitiva rara, caratterizzata da un aumento della suscettibilità alle infezioni batteriche e virali intracellulari, con o senza aumento dei livelli di IgE nel siero. Il quadro clinico è molto variabile e dipende dal tipo e della localizzazione dell'infezione e può comprendere l'otite, la sinusite e le infezioni polmonari e cutanee ricorrenti, la meningite e gli ascessi interni."},"nl":{"name":"Susceptibiliteit voor infectie door TYK2-deficiëntie","definition":"Susceptibiliteit voor infectie door TYK2-deficiëntie is een zeldzame primaire immuundeficiëntie die wordt gekarakteriseerd door verhoogde vatbaarheid voor intracellulaire bacteriële en virale infecties, met of zonder toename van IgE in het serum. De klinische manifestaties zijn zeer variabel, afhankelijk van het type en de locatie van de infectie, en omvatten mogelijk recurrente otitis, sinusitis, pulmonale en cutane infecties, meningitis en interne abcessen."},"pt":{"name":"Susceptibilidade a infeção por deficiência de TYK2","synonyms":["Síndrome hiper IgE autossómica recessiva por deficiência de TYK2"]},"pl":{"name":"Podatność na infekcje z powodu niedoboru TYK2","synonyms":["AR-HIES z powodu niedoboru TYK2","Zespół AR-hyper IgE z powodu niedoboru TYK2"],"definition":"*Podatność na infekcje z powodu niedoboru TYK2 jest rzadkim pierwotnym niedoborem odporności, który charakteryzuje się zwiększoną podatnością na wewnątrzkomórkowe zakażenia bakteryjne i wirusowe, z towarzyszącym (lub nie) zwiększeniem stężenia IgE w surowicy. Objawy kliniczne są bardzo zróżnicowane, w zależności od rodzaju zakażenia i jego lokalizacji mogą obejmować nawracające zapalenie ucha, zapalenie zatok, infekcje płuc i skóry, zapalenie opon mózgowych i ropnie narządów wewnętrznych."},"cs":{"name":"Náchylnost k infekci způsobená TYK2 deficitem","synonyms":["Autozomálně recesivní hyper-IgE syndrom způsobený TYK2 deficitem"]},"uk":{"name":"Сприйнятливість до інфекцій, зумовлена дефіцитом TYK2","definition":"A rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses."},"zh":{"name":"TYK2基因缺陷所致感染易感","synonyms":["TYK2基因缺陷所致常染色体隐性IgE增多综合征"],"definition":"TYK2基因缺乏所致感染易感是一种罕见的原发性免疫缺陷，其特征是对细胞内细菌和病毒感染的易感性增加，伴或不伴血清IgE升高。临床表现因感染类型和部位而异，可包括复发性中耳炎、鼻窦炎、肺部和皮肤感染、脑膜炎和内脓肿。"},"tr":{"name":"TYK2 eksikliğine bağlı enfeksiyona duyarlılık","synonyms":["TYK2 eksikliğine bağlı otozomal çekinik hiper-IgE sendromu"]}},"xrefs":[{"source":"OMIM","code":"611521","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012682","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566928","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1969086","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":319539,"name":"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"TYK2","name":"tyrosine kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17088085[PMID]_17521577[PMID]","hgnc":"12440","ensembl":"ENSG00000105397","omim":"176941","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"26304966[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26304966[PMID]"}],"phenotypes":null}