{"orpha":169085,"name":"Susceptibility to respiratory infections associated with CD8alpha chain mutation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial CD8 deficiency"],"definition":"A rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169085/","orphanet_url":"https://www.orpha.net/en/disease/detail/169085","names":{"fr":{"name":"Susceptibilité aux infections respiratoires associée à une mutation de la chaîne alpha de CD8","synonyms":["Déficit familial en CD8"],"definition":"Déficit immunitaire primaire rare par défaut de l'immunité adaptative caractérisé par l'absence de lymphocytes T CD8+, des taux normaux d'immunoglobulines et d'anticorps spécifiques dans le sang et une susceptibilité aux infections respiratoires bactériennes et virales récurrentes. La gravité des symptômes va de l'insuffisance respiratoire fatale à des formes légères ou asymptomatiques."},"de":{"name":"Erhöhte Anfälligkeit für Atemwegsinfektionen durch CD8alpha-Defizienz","synonyms":["CD8-Mangel, familiärer"],"definition":"Ein seltener primärer Immundefekt aufgrund eines Defekts der adaptiven Immunität, der durch das Fehlen von CD8+-T-Zellen mit normalen Immunglobulin- und spezifischen Antikörpertitern im Blut und Anfälligkeit für wiederkehrende bakterielle und virale Infektionen der Atemwege gekennzeichnet ist. Die Schwere der Symptome reicht von tödlicher Ateminsuffizienz bis hin zu milden oder asymptomatischen Phänotypen."},"es":{"name":"Susceptibilidad a infecciones respiratorias asociada con una mutación en la cadena alpha de CD8","synonyms":["Deficiencia de CD8 familiar","Deficiencia familiar de CD8"],"definition":"Es una inmunodeficiencia primaria poco frecuente por un defecto de la inmunidad adaptativa. Está caracterizada por la ausencia de células T CD8 + con títulos normales de inmunoglobulinas y de anticuerpos específicos en sangre así como susceptibilidad a infecciones virales y bacterianas respiratorias recurrentes. La gravedad de los síntomas varía desde insuficiencia respiratoria fatal a fenotipos leves o asintomáticos."},"it":{"name":"Suscettibilità alle infezioni respiratorie associata alla mutazione della catena di CD8alfa","synonyms":["Deficit familiare di CD8"],"definition":"La suscettibilità alle infezioni respiratorie associata alla mutazione della catena CD8alfa è un'immunodeficienza primitiva rara, causata da un difetto dell'immunità adattativa. È caratterizzata dall'assenza delle cellule T CD8+, valori normali delle immunoglobuline e dei titoli anticorpali specifici nel sangue, e suscettibilità alle infezioni respiratorie batteriche e virali ricorrenti. La gravità dei sintomi è variabile e comprende l'insufficienza respiratoria letale fino a quadri clinici sfumati o addirittura casi asintomatici."},"nl":{"name":"Vatbaarheid voor luchtweginfecties geassocieerd met mutatie in CD8-alfaketen","synonyms":["Familiale CD8-deficiëntie"],"definition":"Een zeldzame primaire immuundeficiëntie door een defect van verworven (adaptieve) immuunsysteem, gekenmerkt door de afwezigheid van CD8+ T-cellen met normale titers van immunoglobulinen en specifieke antilichamen in bloed, en vatbaarheid voor recidiverende bacteriële en virale infecties van luchtwegen. De ernst van de symptomen gaat van fatale respiratoire insufficiëntie tot milde of asymptomatische fenotypes."},"pt":{"name":"Suscetibilidade a infeções respiratórias associada com mutação na cadeia CD8alfa"},"pl":{"name":"Wrażliwość na infekcje układu oddechowego związana z mutacją łańcuchów CD8alfa","synonyms":["Rodzinny Niedobór CD8"],"definition":"*Wrażliwość na infekcje układu oddechowego związana z mutacją łańcuchów CD8alfa jest rzadkim pierwotnym niedoborem odporności, związanym z defektem odporności adaptacyjnej, który charakteryzuje się brakiem limfocytów T CD8 +, prawidłowymi stężeniami immunoglobulin i specyficznymi mianami przeciwciał we krwi oraz podatnością na nawracające infekcje bakteryjne i wirusowe układu oddechowego. Nasilenie objawów obejmuje zakres od śmiertelnej niewydolności oddechowej do łagodnego lub bezobjawowego przebiegu choroby."},"cs":{"name":"Náchylnost k respiračním infekcím spojená s mutacemi CD8 alfa řetězce","synonyms":["Familiární deficit CD8"]},"uk":{"name":"Сприйнятливість до респіраторних інфекцій, повязана з мутацією ланцюга CD8-альфа","synonyms":["Сімейний дефіцит CD8"],"definition":"A rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes."},"zh":{"name":"CD8alpha链突变相关呼吸道感染易感性","synonyms":["家族性CD8缺陷"],"definition":"CD8α链突变型呼吸道感染易感症是一种罕见的原发性免疫缺陷病，由于适应性免疫缺陷所致，其特征为血中缺乏具有正常免疫球蛋白和特异性抗体的CD8+T细胞，容易反复感染呼吸道细菌和病毒。其主要临床表现为无症状或不同程度的呼吸功能不全，重者可有生命危险。"},"tr":{"name":"CD8alfa zincir mutasyonu ilişkili solunum yolu enfeksiyonlarına duyarlılık","synonyms":["Ailesel CD8 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"608957","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"220561401"},{"source":"MONDO","code":"0012161","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563824","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1837065","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":718072,"name":"Combined immunodeficiency with low CD8 and normal CD4","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"CD8A","name":"CD8 subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11435463[PMID]","hgnc":"1706","ensembl":"ENSG00000153563","omim":"186910","loci":["2p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}