{"orpha":391311,"name":"Susceptibility to viral and mycobacterial infections due to STAT1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Predisposition to severe viral infection due to STAT1 deficiency","STAT1 deficiency"],"definition":"A rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391311/","orphanet_url":"https://www.orpha.net/en/disease/detail/391311","names":{"fr":{"name":"Susceptibilité aux infections virales et mycobactériennes par déficit en STAT1","synonyms":["Déficit en STAT1","Prédisposition aux infections virales sévères par déficit en STAT1"],"definition":"Déficit immunitaire primaire rare et génétique par défaut de l'immunité innée, caractérisé par une altération de la voie de signalisation intracellulaire des interférons I et II, entraînant des infections virales (principalement à Herpes simplex) et bactériennes intracellulaires (typiquement à mycobactéries) sévères, à début précoce et potentiellement létales."},"de":{"name":"Empfänglichkeit für virale und mykobakterielle Infektionen durch STAT1-Defizienz","synonyms":["Prädisposition für schwere Virusinfektionen aufgrund von STAT1-Mangel","STAT1-Mangel"],"definition":"Ein genetisch bedingter primärer Immundefekt aufgrund eines Defekts der angeborenen Immunität, der durch eine gestörte intrazelluläre Signaltransduktion der Interferone Typ I und II gekennzeichnet ist und zu früh einsetzenden, schweren und lebensbedrohlichen intrazellulären bakteriellen (typischerweise Mykobakterien) und viralen (hauptsächlich Herpesviren) Infektionen führt."},"es":{"name":"Susceptibilidad a infecciones víricas y micobacterianas","synonyms":["Deficiencia de STAT1"],"definition":"Es una inmunodeficiencia primaria, genética y poco frecuente, debida a un defecto de la inmunidad innata. Está caracterizada por una alteración de la señalización intracelular mediada por interferón tipo I y II, lo que conduce a infecciones bacterianas intracelulares (generalmente por micobacterias) y víricas (principalmente por el virus del herpes) de aparición temprana y potencialmente mortales."},"it":{"name":"Suscettibilità alle infezioni virali e micobatteriche","synonyms":["Deficit di STAT1"],"definition":"La suscettibilità alle infezioni virali e micobatteriche è un'immunodeficienza primitiva genetica rara, causata da un difetto dell'immunità innata. È caratterizzata dalla compromissione del segnale intracellulare degli interferoni di tipo I e II, a cui conseguono infezioni batteriche (di solito da micobatteri) e virali (soprattutto herpes virus) intracellulari gravi e potenzialmente letali ad esordio precoce."},"nl":{"name":"Susceptibiliteit voor virale en mycobacteriële infecties","synonyms":["STAT1-deficiëntie"],"definition":"Een zeldzame, genetische primaire immuundeficiëntie door defect van aangeboren immuniteit, gekenmerkt door verstoorde intracellulaire signalering van zowel type I als type II interferonen, wat leidt tot vroeg aanvangende, ernstige, levensbedreigende intracellulaire bacteriële (doorgaans mycobacteriën) en virale (voornamelijk herpesvirussen) infecties."},"pt":{"name":"Suscetibilidade a infeções víricas e micobacterianas por deficiência de STAT1"},"pl":{"name":"Podatność na zakażenia wirusowe i mykobakteryjne","synonyms":["Predisposition to severe viral infection due to STAT1 deficiency","STAT1 deficiency"],"definition":"*Podatność na zakażenia wirusowe i mykobakteryjne jest rzadkim, genetycznie uwarunkowanym, pierwotnym niedoborem odporności spowodowanym defektem odporności wrodzonej, który charakteryzuje się upośledzeniem sygnalizacji wewnątrzkomórkowej, zależnej od interferonów typu I i II, co prowadzi wczesnych, ciężkich, zagrażających życiu infekcji wewnątrzkomórkowych o wczesnym początku, wywołanych przez bakterie (typowo mykobakterie) i wirusy (głównie wirusy opryszczki)."},"cs":{"name":"Vnímavost k virovým a mykobakteriálním infekcím","synonyms":["STAT1 deficit"]},"uk":{"name":"Сприйнятливість до вірусних та мікобактеріальних інфекцій через дефіцит STAT1","synonyms":["Схильність до тяжких вірусних інфекцій через дефіцит STAT1","Дефіцит STAT1"],"definition":"A rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections."},"zh":{"name":"STAT1基因缺陷所致对病毒和分枝杆菌易感","synonyms":["STAT1缺陷所致对严重病毒感染易感"],"definition":"对病毒和分枝杆菌感染的易感性是一种罕见的遗传性原发性免疫缺陷，其原因是先天免疫紊乱，其特征是I型和II型干扰素的细胞内信号受损，导致早发、严重、危及生命的细胞内细菌(通常是分枝杆菌)和病毒(主要是疱疹病毒)感染。"},"tr":{"name":"STAT1 eksikliğine bağlı viral ve mikobakteriyel enfeksiyonlara duyarlılık","synonyms":["STAT1 eksikliği","STAT1 eksikliğine bağlı ağır viral enfeksiyona yatkınlık"]}},"xrefs":[{"source":"OMIM","code":"613796","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013427","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755296","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183710,"name":"Genetic susceptibility to infections due to particular pathogens","classifications":[156,195]}],"children":[],"genes":[{"symbol":"STAT1","name":"signal transducer and activator of transcription 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23403048[PMID]_23534974[PMID]_23541320[PMID]","hgnc":"11362","ensembl":"ENSG00000115415","omim":"600555","loci":["2q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}