{"orpha":306431,"name":"Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acquired adult-onset immunodeficiency","Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies"],"definition":"A rare acquired immunodeficiency disorder characterized by the appearance of susceptibility to disseminated opportunistic infections (in particular, disseminated nontuberculous mycobacterial infection, salmonellosis, penicillosis, and varicella zoster virus infection) in previously healthy (HIV-negative) adults, associated with the presence of acquired autoantibodies to interferon gamma. Typical clinical manifestation includes lymphadenopathy (cervical or generalized), fever, weight loss and/or reactive skin lesions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-306431/","orphanet_url":"https://www.orpha.net/en/disease/detail/306431","names":{"fr":{"name":"Déficit immunitaire de l'adulte avec autoanticorps anti-interféron-gamma","synonyms":["Déficit immunitaire acquis de l'adulte","Déficit immunitaire de l'adulte avec autoanticorps anti-interféron-gamma acquis"],"definition":"Déficit immunitaire acquis rare caractérisé par l'apparition d'une susceptibilité aux infections opportunistes disséminées (en particulier, infection mycobactérienne non tuberculeuse disséminée, salmonellose, pénicillose et infection par le virus varicelle-zona) chez des adultes auparavant en bonne santé (séronégatifs pour le VIH), associée à la présence d'auto-anticorps acquis contre l'interféron gamma. Les manifestations cliniques typiques sont une lymphadénopathie (cervicale ou généralisée), de la fièvre, une perte de poids et/ou des lésions cutanées réactives."},"de":{"name":"Immundefekt des Erwachsenen, mit anti-Interferon gamma-Antikörpern","synonyms":["Immundefekt des Erwachsenen, erworbener","Immundefekt des Erwachsenen, mit erworbenen anti-Interferon gamma-Antikörpern"],"definition":"Eine seltener erworbener Immundefekt, der durch das Auftreten einer Anfälligkeit für disseminierte opportunistische Infektionen (insbesondere disseminierte nichttuberkulöse Mykobakterieninfektionen, Salmonellose, Penicillose und Varizella-Zoster-Virus-Infektionen) bei zuvor gesunden (HIV-negativen) Erwachsenen gekennzeichnet ist und mit dem Vorhandensein von erworbenen Autoantikörpern gegen Interferon gamma einhergeht. Zu den typischen klinischen Symptomen gehören Lymphadenopathie (zervikal oder generalisiert), Fieber, Gewichtsverlust und/oder reaktive Hautläsionen."},"es":{"name":"Inmunodeficiencia con autoanticuerpos anti-interferón-gamma de inicio en el adulto","synonyms":["Inmunodeficiencia adquirida de inicio en el adulto","Inmunodeficiencia adquirida de inicio en el adulto con autoanticuerpos anti-interferón-gamma"],"definition":"Es un trastorno de inmunodeficiencia adquirida poco frecuente caracterizado por la aparición de susceptibilidad a infecciones oportunistas diseminadas (en particular, infección micobacteriana no tuberculosa diseminada, salmonelosis, peniciliosis e infección por el virus de la varicela zoster) en adultos previamente sanos (VIH negativos), asociada a la presencia de autoanticuerpos anti-interferón gamma adquiridos. Los hallazgos clínicos característicos incluyen linfadenopatía (cervical o generalizada), fiebre, pérdida de peso y/o lesiones cutáneas reactivas."},"it":{"name":"Immunodeficienza ad esordio nell'età adulta con autoanticorpi anti-interferone gamma","definition":"È un'immunodeficienza acquisita rara, caratterizzata da suscettibilità alle infezioni opportunistiche diffuse (in particolare infezioni diffuse da micobatteri non tubercolari, salmonellosi, penicilliosi e infezione da virus varicella-zoster) in perone adulte in precedenza sane (negativi all'HIV), associate alla presenza di autoanticorpi acquisiti anti-interferone gamma. I segni clinici caratteristici comprendono la linfoadenopatia (cervicale o diffusa), la febbre, la perdita di peso e/o le lesioni cutanee reattive."},"nl":{"name":"Imuundeficiëntie met anti-interferon-gamma auto-antilichamen met aanvang op volwassen leeftijd","synonyms":["Imuundeficiëntie met verworven anti-interferon-gamma auto-antilichamen met aanvang op volwassen leeftijd","Verworven immuundeficiëntie met aanvang op volwassen leeftijd"],"definition":"Een zeldzame, verworven immuundeficiëntie die gekarakteriseerd wordt door de opkomst van vatbaarheid voor verspreide opportunistische infecties (voornamelijk verspreide niet-tuberculeuze mycobacteriële infectie, salmonellose, penicillose, en infectie met varicella zostervirus) in voordien gezonde (HIV-negatieve) volwassenen, geassocieerd met de aanwezigheid van verworven auto-antilichamen tegen interferon-gamma. Typische klinische manifestaties zijn onder meer lymfadenopathie (cervicaal of gegeneraliseerd), koorts, gewichtsverlies en/of reactieve huidletsels."},"pt":{"name":"Imunodeficiência com autoanticorpos anti-interferon-gama de início no adulto"},"pl":{"name":"Niedobór odporności wieku dorosłego z obecnością przeciwciał przeciwko interferonowi gamma","synonyms":["Niedobór odporności o początku w wieku dorosłym z autoprzeciwciałami anty interferon gamma"]},"cs":{"name":"Získaná imunodeficience s nástupem v dospělém věku","synonyms":["Imunodeficience s anti-interferon-gama protilátkami s nástupem v dospělém věku"]},"uk":{"name":"Імунодефіцит у дорослих з аутоантитілами до антиінтерферону-гамма","synonyms":["Набутий імунодефіцит у дорослих","Імунодефіцит, що починається у дорослих, з набутими аутоантитілами до антиінтерферону-гамма"],"definition":"A rare acquired immunodeficiency disorder characterized by the appearance of susceptibility to disseminated opportunistic infections (in particular, disseminated nontuberculous mycobacterial infection, salmonellosis, penicillosis, and varicella zoster virus infection) in previously healthy (HIV-negative) adults, associated with the presence of acquired autoantibodies to interferon gamma. Typical clinical manifestation includes lymphadenopathy (cervical or generalized), fever, weight loss and/or reactive skin lesions."},"zh":{"name":"抗干扰素-γ自身抗体的成人免疫缺陷","synonyms":["成人免疫缺陷伴抗干扰素-γ自身抗体"],"definition":"一种罕见的获得性免疫缺陷病，其特征是健康（HIV阴性）成人播散性机会性感染（尤其是播散性非结核分枝杆菌感染、沙门氏菌病、青霉菌病和水痘带状疱疹病毒感染）易感，与获得性干扰素γ自身抗体产生有关。典型临床表现包括淋巴结肿大（颈部或全身性）、发热、体重减轻和/或皮肤反应性病变。"},"tr":{"name":"Anti-interferon-gama otoantikorları ile seyreden yetişkin başlangıçlı immün yetmezlik","synonyms":["Erişkin başlangıçlı edinsel immün yetmezlik","Edinsel anti-interferon-gama otoantikorları ile seyreden erişkin başlangıçlı immün yetmezlik"]}},"xrefs":[{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A20.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017617","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191336","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11992","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":310050,"name":"Rare acquired immunodeficiency","classifications":[195]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}