{"orpha":357329,"name":"Combined immunodeficiency due to IL21R deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID due to IL21R deficiency","Combined immunodeficiency due to interleukin 21 receptor deficiency"],"definition":"A rare, genetic, non-severe combined immunodeficiency disorder characterized by variable B- and T-cell defects (including defective B-cell differentiation and impaired T-cell proliferation to mitogens and bacterial antigens) and natural killer cell dysfunction (ranging from impaired cytotoxicity to lymphopenia) due to IL21R deficiency, manifesting with recurrent respiratory and/or gastrointestinal tract infections and, in some cases, with severe, chronic, progressive cholangitis and liver cirrhosis associated with cryptosporidial infection.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-357329/","orphanet_url":"https://www.orpha.net/en/disease/detail/357329","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en IL21R","synonyms":["CID par déficit en IL21R","DIC par déficit en IL21R","Déficit immunitaire combiné par déficit en protéine interleukin 21 receptor","Immunodéficience combinée par déficit en IL21R"],"definition":"Déficit immunitaire combiné non sévère rare d'origine génétique, caractérisé par des défauts variables des cellules B et T (y compris une différenciation défectueuse des cellules B et une prolifération défectueuse des cellules T vis-à-vis de mitogènes et d'antigènes bactériens) et un dysfonctionnement des cellules tueuses naturelles (allant d'une cytotoxicité défectueuse à une lymphopénie) dus à un déficit en IL21R, se manifestant par des infections récurrentes des voies respiratoires et/ou gastro-intestinales et, dans certains cas, par une cholangite et une cirrhose du foie graves, chroniques et progressives associées à une infection à <i>Cryptosporidium</i>."},"de":{"name":"Kombinierter Immundefekt durch IL21R-Mangel","synonyms":["CID durch IL21R-Defizienz","IL-21R-Defekt","Kombinierter Immundefekt durch Interleukin-21-Rezeptor-Mangel"],"definition":"Eine seltener, genetisch bedingter, nicht-schwerer kombinierter Immundefekt aufgrund eines IL21R-Mangels, der gekennzeichnet ist durch variable B- und T-Zelldefekte (einschließlich mangelhafter B-Zelldifferenzierung und beeinträchtigter T-Zellproliferation gegenüber Mitogenen und bakteriellen Antigenen) sowie Dysfunktion der natürlichen Killerzellen (von beeinträchtigter Zytotoxizität bis hin zu Lymphopenie). Klinische Merkmale sind wiederkehrende Infektionen der Atemwege und/oder des Magen-Darm-Traktes. In einigen Fällen manifestiert sich eine schwere, chronische, fortschreitende Cholangitis und Leberzirrhose in Verbindung mit einer Kryptosporidieninfektion."},"es":{"name":"Inmunodeficiencia combinada por deficiencia de IL21R","synonyms":["IDC por deficiencia de IL21R","Inmunodeficiencia combinada por deficiencia del receptor de interleucina 21"],"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 combinata da deficit di IL21R","synonyms":["CID da deficit di IL21R","Immunodeficienza combinata da deficit del recettore dell'interleuchina 21"],"definition":"È un'immunodeficienza genetica combinata rara non grave, caratterizzata da difetti variabili dei linfociti B e T (anomalie della differenziazione dei linfociti B e compromissione della proliferazione dei linfociti T nei confronti dei mitogeni e degli antigeni batterici) e disfunzione delle cellule natural killer (compromissione della citotossicità, linfopenia), causati da un deficit di IL21R. La malattia esordisce con infezioni ricorrenti delle vie respiratorie e/o del tratto gastrointestinale e, in alcuni pazienti, con colangite progressiva cronica grave, cirrosi epatica e infezione da Cryptosporidium."},"nl":{"name":"Gecombineerde immuundeficiëntie door IL21R-deficiëntie","synonyms":["CID door IL21R-deficiëntie","Gecombineerde immuundeficiëntie door deficiëntie van interleukine 21-receptor"],"definition":"Een zeldzame, genetische, niet-ernstige gecombineerde immuundeficiëntie die gekarakteriseerd wordt door variabele defecten van B- en T-cellen (waaronder gebrekkige differentiatie van B-cellen en verstoorde proliferatie van T-cellen in reactie op mitogenen en bacteriële antigenen) en disfunctie van natuurlijke killercellen (gaande van verstoorde cytotoxiciteit tot lymfopenie) als gevolg van IL21R-deficiëntie, en die zich manifesteert met recurrente infecties van het ademhalings- en/of maag-darmstelsel en, in sommige gevallen, met ernstige, chronische, progressieve cholangitis en levercirrose geassocieerd met cryptosporidiale infectie."},"pt":{"name":"Imunodeficiência combinada por deficiência de IL21R"},"pl":{"name":"Kryptosporidioza - przewlekłe zapalenie dróg żółciowych - choroba wątroby","synonyms":["Złożony niedobór odporności spowodowany niedoborem IL21R"]},"cs":{"name":"Syndrom zahrnující kryptosporidiózu, chronickou cholangitidu a postižení jater","synonyms":["CID due to IL21R deficiency","Combined immunodeficiency due to interleukin 21 receptor deficiency"]},"uk":{"name":"Комбінований імунодефіцит, зумовлений дефіцитом IL21R","definition":"A rare, genetic, non-severe combined immunodeficiency disorder characterized by variable B- and T-cell defects (including defective B-cell differentiation and impaired T-cell proliferation to mitogens and bacterial antigens) and natural killer cell dysfunction (ranging from impaired cytotoxicity to lymphopenia) due to IL21R deficiency, manifesting with recurrent respiratory and/or gastrointestinal tract infections and, in some cases, with severe, chronic, progressive cholangitis and liver cirrhosis associated with cryptosporidial infection."},"zh":{"name":"IL21R基因缺陷所致联合免疫缺陷","definition":"本病是一种罕见的、遗传性的、非严重的联合免疫缺陷疾病，其特征是B细胞和T细胞的各种缺陷(包括B细胞分化缺陷和T细胞对有丝分裂原和细菌抗原的增殖受损)和自然杀伤细胞功能障碍(从细胞毒性受损到淋巴细胞减少)，表现为反复的呼吸道和/或胃肠道感染。在某些情况下，本病与严重的慢性进行性胆管炎和肝硬化和隐孢子虫感染相关。"},"tr":{"name":"IL21R eksikliğine bağlı kombine immün yetmezlik"}},"xrefs":[{"source":"OMIM","code":"615207","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5191307","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":688571,"name":"Combined immunodeficiency with low immunoglobulins and normal B cells","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"IL21R","name":"interleukin 21 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23440042[PMID]","hgnc":"6006","ensembl":"ENSG00000103522","omim":"605383","loci":["16p12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"23440042[PMID]_25769540[PMID]_25398835[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23440042[PMID]_25769540[PMID]_25398835[PMID]"}],"phenotypes":null}