{"orpha":231154,"name":"Atypical/leaky severe combined immunodeficiency due to partial RAG defect","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Atypical/leaky SCID due to partial RAG defect","Atypical/leaky severe combined immunodeficiency due to partial recombination activating gene defect"],"definition":"Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231154/","orphanet_url":"https://www.orpha.net/en/disease/detail/231154","names":{"fr":{"name":"Déficit immunitaire combiné sévère atypique/atténué par déficit partiel en RAG","synonyms":["DICS atypique/atténué par déficit partiel en RAG","SCID atypique/atténuée par déficit partiel en RAG","Immunodéficience combinée sévère atypique/atténuée par déficit partiel en RAG","Déficit immunitaire combiné sévère atypique/atténué par déficit partiel en protéine recombination activating gene"],"definition":"Le déficit immunitaire combiné T+B+ du à un déficit partiel en RAG1 est une forme de déficit immunitaire combiné des cellules T et B (DIC) caractérisée par une infection à cytomégalovirus persistante et sévère et une cytopénie auto-immune."},"de":{"name":"Atypischer schwerer kombinierter Immundefekt durch partiellen RAG1-Mangel","synonyms":["Leaky-SCID durch partiellen RAG1-Defekt","Atypischer/Leaky-SCID mit partieller Rekombinationsaktivierung durch Gendefekt"],"definition":"Der Kombinierte Immundefekt durch partiellen RAG1-Mangel ist eine Form des kombinierten T-und B-Zell-Immundefektes (CID; s. dort) und gekennzeichnet durch schwere, persistierende Infektionen mit Zytomegalie-Virus (CMV) und Autoimmun-Zytopenie."},"es":{"name":"Inmunodeficiencia combinada grave atípica/con fugas por un defecto parcial de RAG","synonyms":["IDCG atípica/con fugas por un defecto parcial de RAG","Inmunodeficiencia combinada grave atípica/con fugas por un defecto parcial del gen activador de recombinación"],"definition":"La inmunodeficiencia combinada por déficit parcial de RAG1 es una forma de inmunodeficiencia combinada de linfocitos T y B (CID; consulte este término) caracterizada por una infección grave y persistente de citomegalovirus (CMV) y citopenia autoinmune."},"it":{"name":"Immunodeficienza combinata grave atipica/con perdite da difetto parziale di RAG","synonyms":["SCID atipica/con perdite da difetto parziale di RAG","Immunodeficienza combinata grave atipica/con perdite da difetto parziale del gene attivante la ricombinazione"],"definition":"L'immunodeficienza combinata da deficit parziale di RAG1 è una forma di immunodeficienza combinata dei linfociti T e B (CID; si veda questo termine), caratterizzata da infezione grave e persistente da citomegalovirus (CMV) e citopenia autoimmune."},"nl":{"name":"Atypische/lekkende ernstige gecombineerde immuundeficiëntie door partieel RAG-defect","synonyms":["Atypische/lekkende SCID door partieel RAG-defect","Atypische/lekkende ernstige gecombineerde immuundeficiëntie door partieel defect van recombinatie-activerend gen"],"definition":"Gecombineerde immuundeficiëntie door gedeeltelijke RAG1-deficiëntie is een vorm van gecombineerde T- en B-celimmunodeficiëntie (CID; zie deze term) gekenmerkt door ernstige en aanhoudende cytomegalovirusinfectie (CMV) en autocytopenie."},"pt":{"name":"Imunodeficiência combinada por deficiência parcial do RAG1"},"pl":{"name":"Złożony niedobór odporności z powodu częściowego niedoboru RAG1","synonyms":["CID powodu częściowego niedoboru RAG1","CID z ekspansją komórek gamma delta T","Złożony niedobór odporności z ekspansją komórek gamma delta T"]},"cs":{"name":"Kombinovaná imunodeficience T+ B+ způsobená parciálním RAG1 deficitem","synonyms":["CID T+ B+ způsobená parciálním RAG1 deficitem","CID s expanzí gama delta T-buněk"]},"uk":{"name":"Комбінований імунодефіцит, зумовлений частковою недостатністю RAG1","synonyms":["КІД через частковий дефіцит RAG1","КІД з експансією гамма-дельта Т-лімфоцитів","Комбінований імунодефіцит з експансією гамма-дельта Т-клітин"],"definition":"Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia."},"zh":{"name":"部分RAG1基因缺陷所致联合免疫缺陷","synonyms":["γδT细胞增生所致联合免疫缺陷"],"definition":"部分RAG1缺乏所致联合免疫缺陷是一种T细胞和B细胞联合免疫缺陷（CID；见该词条），其特征是严重和持续的巨细胞病毒（CMV）感染和自身免疫性细胞减少。"},"tr":{"name":"Kısmi RAG1 eksikliğine bağlı kombine immün yetmezlik","synonyms":["Kısmi RAG1 eksikliğine bağlı CID","Gama delta T hücrelerinin genişlemesi ile seyreden CID","Gama delta T hücrelerinin genişlemesi ile seyreden kombine immün yetmezlik"]}},"xrefs":[{"source":"OMIM","code":"609889","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1692593795"},{"source":"MONDO","code":"0012359","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510944","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13712","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":480549,"name":"Non-severe combined immunodeficiency","classifications":[156,195,233]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"RAG1","name":"recombination activating 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9831","ensembl":"ENSG00000166349","omim":"179615","loci":["11p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"16276422[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16276422[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010976","label":"Decreased total B cell count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005403","label":"Decreased total T cell count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006515","label":"Interstitial pneumonitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004430","label":"Severe combined immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001890","label":"Autoimmune hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001904","label":"Neutropenia in presence of anti-neutropil antibodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null}]}}