{"orpha":157949,"name":"Combined immunodeficiency with granulomas and/or autoimmunity due to RAG defect","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID with granulomas and/or autoimmunity due to RAG defect","Combined immunodeficiency with granulomas and/or autoimmunity due to recombination activating gene defect"],"definition":"A rare, genetic, non-severe combined immunodeficiency disease characterized by immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs, and various autoimmune manifestations (including cytopenias, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-157949/","orphanet_url":"https://www.orpha.net/en/disease/detail/157949","names":{"fr":{"name":"Déficit immunitaire combiné avec granulomes et/ou auto-immunité par déficit en RAG","synonyms":["CID-G/AI","DIC avec granulomes et/ou auto-immunité par déficit en RAG","CID avec granulomes et/ou auto-immunité par déficit en RAG","Déficits combinés de l'immunité humorale et cellulaire avec granulomes multiples","Immunodéficience combinée avec granulomes et/ou auto-immunité par déficit en RAG","Déficit immunitaire combiné avec granulomes et/ou auto-immunité par déficit en protéine recombination activating gene"],"definition":"Déficit immunitaire combiné non sévère rare, d'origine génétique, caractérisé par un déficit immunitaire (se manifestant par des infections virales et bactériennes récurrentes et/ou sévères), des granulomes destructeurs non infectieux affectant la peau, les muqueuses et les organes internes, ainsi que par diverses manifestations auto-immunes (cytopénies, vitiligo, psoriasis, myasthénie auto-immune, entéropathie). Sur le plan du phénotype immunitaire, une lymphopénie à cellules T et B, une hypogammaglobulinémie, une production anormale d'anticorps spécifiques et un dysfonctionnement des cellules T sont observés."},"de":{"name":"Kombinierter Immundefekt mit Granulomatose und/oder Autoimmunität durch RAG-Defekt","synonyms":["CID mit Granulomatose und/oder Autoimmunität durch RAG 1/2-Defekt","Immundefekt, kombinierter, durch RAG 1/2-Mangel"]},"es":{"name":"Inmunodeficiencia combinada con granulomatosis y/o autoinmunidad por un defecto RAG","synonyms":["CID con granulomatosis y/o autoinmunidad por un defecto de RAG","IDC con granulomatosis y/o autoinmunidad por un defecto de RAG","Inmunodeficiencia combinada con granulomatosis y/o autoinmunidad por un defecto del gen activador de recombinación"],"definition":"Es una enfermedad por inmunodeficiencia combinada no grave, genética y poco frecuente, caracterizada por inmunodeficiencia (que se manifiesta con infecciones virales y bacterianas recurrentes y/o graves), granulomas destructivos no infecciosos que afectan a la piel, mucosas y órganos internos, y diversas manifestaciones autoinmunes (tales como citopenias, vitíligo, psoriasis, miastenia gravis, enteropatía). Inmunofenotípicamente se observa linfopenia de células T y células B, hipogammaglobulinemia, producción anómala de anticuerpos específicos y alteración de la función de las células T."},"it":{"name":"Immunodeficienza combinata con granulomi e/o autoimmunità da deficit di RAG","synonyms":["CID con granulomi e/o autoimmunità da deficit di RAG","Immunodeficienza combinata con granulomi e/o autoimmunità da difetto del gene attivante la ricombinazione"],"definition":"È un'immunodeficienza genetica rara non grave, caratterizzata da immunodeficienza (che esordisce con infezioni batteriche e virali ricorrenti e/o gravi), granulomi distruttivi non infettivi che interessano la cute, le mucose e gli organi interni, e diversi segni di patologie autoimmuni (citopenia, vitiligine, psoriasi, miastenia grave, enteropatia). Dal punto di vista immunofenotipico, si osserva linfopenia delle cellule T e B, ipogammaglobulinemia, anomalie della produzione di anticorpi specifici e deficit della funzione delle cellule T."},"nl":{"name":"Gecombineerde immuundeficiëntie met granulomen en/of auto-immuniteit door RAG-defect","synonyms":["CID met granulomen en/of auto-immuniteit door RAG-defect","Gecombineerde immuundeficiëntie met granulomen en/of auto-immuniteit door defect van recombinatie-activerend gen"],"definition":"Een zeldzame, genetische, niet-ernstige gecombineerde immuundeficiëntie die gekarakteriseerd wordt door immuundeficiëntie (gemanifesteerd door recurrente en/of ernstige bacteriële en virale infecties), destructieve niet-infectieuze granulomen met betrokkenheid van huid, slijmvlies en inwendige organen, en verscheidene auto-immune manifestaties (waaronder cytopenieën, vitiligo, psoriasis, myasthenia gravis, enteropathie). Immunofenotypisch worden T-cel- en B-cellymfopenie, hypogammaglobulinemie, abnormale productie van specifieke antilichamen en verstoorde functie van T-cellen waargenomen."},"pt":{"name":"Imunodeficiência combinada com granulomatose"},"pl":{"name":"Złożony Niedobór odporności z ziarniniakami skóry","synonyms":["CID z powodu niedoboru RAG 1/2","Złożony Niedobór odporności z powodu niedoboru RAG 1/2"]},"cs":{"name":"Kombinovaná imunodeficience s kožními granulomy","synonyms":["CID zpusobený deficitem RAG 1/2","CID způsobený deficitem RAG 1/2","Kombinovaná imunodeficience způsobená deficitem RAG 1/2","Těžká kombinovaná imunodeficience způsobená mutací RAG1 či RAG 2"]},"uk":{"name":"Комбінований імунодефіцит з гранулематозом","synonyms":["КІД через дефіцит RAG 1/2","Комбінований імунодефіцит внаслідок дефіциту RAG 1/2"],"definition":"A rare, genetic, non-severe combined immunodeficiency disease characterized by immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs, and various autoimmune manifestations (including cytopenias, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed."},"zh":{"name":"细胞和体液免疫缺陷合并肉芽肿","synonyms":["RAG1/2缺陷所致联合免疫缺陷"],"definition":"一种罕见的遗传性非重症联合免疫缺陷疾病，其特征是免疫缺陷(表现为反复和/或严重的细菌和病毒感染)，累及皮肤、粘膜和内脏器官的破坏性非传染性肉芽肿，以及多种自身免疫表现(包括血细胞减少症、白癜风、银屑病、重症肌无力、肠病)。免疫表型表现为T细胞和B细胞淋巴细胞减少，低丙种球蛋白血症，异常特异性抗体产生和T细胞功能受损。"},"tr":{"name":"Granülomatoz ile seyreden kombine immün yetmezlik","synonyms":["RAG1/2 eksikliğine bağlı CID","RAG1/2 eksikliğine bağlı kombine immün yetmezlik"]}},"xrefs":[{"source":"OMIM","code":"233650","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009306","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191061","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13587","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183494,"name":"Genetic immune deficiency with skin involvement","classifications":[156]},{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]},{"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":"18463379[PMID]","hgnc":"9831","ensembl":"ENSG00000166349","omim":"179615","loci":["11p12"]},{"symbol":"RAG2","name":"recombination activating 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18463379[PMID]","hgnc":"9832","ensembl":"ENSG00000175097","omim":"179616","loci":["11p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}