{"orpha":169100,"name":"Immunodeficiency due to CD25 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Interleukin-2 receptor alpha chain deficiency"],"definition":"A rare genetic primary immunodeficiency due to a defect in adaptive immunity characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169100/","orphanet_url":"https://www.orpha.net/en/disease/detail/169100","names":{"fr":{"name":"Déficit immunitaire par déficit en CD25","synonyms":["Déficit en chaîne alpha du récepteur de l'interleukine-2","Immunodéficience par déficit en CD25"],"definition":"Déficit immunitaire primaire par défaut de l'immunité adaptative rare d'origine génétique caractérisé par une immunodéficience sévère se manifestant par une grande susceptibilité aux infections virales, fongiques et bactériennes due à une altération de la fonction des cellules T régulatrices médiées par le CD25, en association avec une maladie auto-immune sévère, telle qu'une alopécie universelle, une érythrodermie, une thyroïdite auto-immune et une entéropathie."},"de":{"name":"Immundefekt durch CD25-Mangel","synonyms":["Defekt der Interleukin-2-Rezeptor-alpha-Kette"]},"es":{"name":"Inmunodeficiencia por deficiencia de CD25","synonyms":["Deficiencia de cadena alpha del receptor de la interleuquina 2"],"definition":"La inmunodeficiencia por deficiencia de CD25 es una inmunodeficiencia primaria genética, poco frecuente, debida a un defecto en la inmunidad adaptativa. Está caracterizada por una inmunodeficiencia grave, presentando una profunda susceptibilidad a las infecciones víricas, fúngicas y bacterianas, debida a una alteración de la función de las células T reguladoras que expresan CD25, junto con una asociación con enfermedades autoinmunes graves, tales como alopecia universal, eritrodermia y tiroiditis y enteropatía autoinmunes."},"it":{"name":"Immunodeficienza da deficit di CD25","synonyms":["Deficit della catena alfa del recettore dell'interleuchina-2"],"definition":"L'immunodeficienza da deficit di CD25 è un'immunodeficienza primitiva genetica rara, causata da un difetto dell'immunità adattativa. È caratterizzata da immunodeficienza grave, che si manifesta con spiccata suscettibilità alle infezioni virali, fungine e batteriche (secondaria alla compromissione della funzione delle cellule T regolatorie mediate da CD25), associata ad una malattia autoimmune importante, come l'alopecia universale, l'eritrodermia, la tiroidite autoimmune e l'enteropatia."},"nl":{"name":"Immuundeficiëntie door CD25-deficiëntie","synonyms":["Deficiëntie van alfaketen van interleukine-2-receptor"],"definition":"Immuundeficiëntie door CD25-deficiëntie is een zeldzame, genetische, primaire immuundeficiëntie als gevolg van een defect in het adaptieve immuunsysteem, en wordt gekarakteriseerd door ernstige immuundeficiëntie die zich manifesteert met sterke vatbaarheid voor virale, fungale en bacteriële infecties door een verstoorde CD25-gemedieerde functie van regulatorische T-cellen, geassocieerd met ernstige auto-immuunziekte, zoals alopecia universalis, erytrodermie, en auto-immune thyreoïditis en enteropathie."},"pt":{"name":"Imunodeficiência por deficiência de CD25"},"pl":{"name":"Niedobór odporności z powodu deficytu CD25","synonyms":["Niedobór łańcucha alfa receptora dla interleukiny-2"],"definition":"*Niedobór odporności z powodu deficytu CD25 jest rzadkim, genetycznie uwarunkowanym, pierwotnym niedoborem odporności, który charakteryzuje się ciężkim niedoborem odporności adaptacyjnej i objawia znaczną podatnością na infekcje wirusowe, grzybicze i bakteryjne wskutek upośledzenia funkcji limfocytów T-regulatorowych zależnej od CD25, z towarzyszącymi ciężkimi chorobami autoimmunologicznymi, takimi jak łysienie uogólnione, erytrodermia, autoimmunologiczne zapalenie tarczycy i enteropatia."},"cs":{"name":"Imunodeficience způsobená deficitem CD25","synonyms":["IL2RA deficit","Deficit alfa řetězce interleukin-2 receptoru"]},"uk":{"name":"Імунодефіцит через дефіцит CD25","synonyms":["Дефіцит альфа-ланцюга рецептора інтерлейкіну-2"],"definition":"A rare genetic primary immunodeficiency due to a defect in adaptive immunity characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy."},"zh":{"name":"CD25因子缺乏免疫缺陷","synonyms":["白介素-2受体α链缺乏症"],"definition":"CD25缺乏所致免疫缺陷病是一种罕见遗传性的适应性免疫缺陷所致原发性免疫缺陷病，其特征为严重的免疫缺陷，由于CD25介导的调节性T淋巴细胞功能受损所致，容易感染病毒、真菌和细菌。该病与严重的自身免疫性疾病相关，如普秃、红皮病、自身免疫性甲状腺炎和肠道疾病。"},"tr":{"name":"CD25 eksikliğine bağlı immün yetmezlik","synonyms":["İnterlökin-2 reseptör alfa zinciri eksikliği"]}},"xrefs":[{"source":"OMIM","code":"606367","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1705860123"},{"source":"MONDO","code":"0011664","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755277","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":169355,"name":"Immunodeficiency syndrome with autoimmunity","classifications":[156,195,233]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":522043,"name":"Syndromic autoimmune enteropathy","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"IL2RA","name":"interleukin 2 receptor subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9096364[PMID]","hgnc":"6008","ensembl":"ENSG00000134460","omim":"147730","loci":["10p15.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"17196245[PMID]_9096364[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17196245[PMID]_9096364[PMID]"}],"phenotypes":null}