{"orpha":275,"name":"T-B-NK+ severe combined immunodeficiency due to DCLRE1C deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCID T-B-NK+ due to ARTEMIS deficiency","SCID T-B-NK+ due to DCLRE1C deficiency","SCID T-B-NK+, Athabascan type","SCID T-B-NK+, Athabaskan type","T-B-NK+ severe combined immunodeficiency due to ARTEMIS deficiency","T-B-NK+ severe combined immunodeficiency, Athabascan type","T-B-NK+ severe combined immunodeficiency, Athabaskan type"],"definition":"Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-275/","orphanet_url":"https://www.orpha.net/en/disease/detail/275","names":{"fr":{"name":"Déficit immunitaire combiné sévère T-B-NK+ type alymphocytosique","synonyms":["DICS T-B-NK+ par déficit en ARTEMIS","DICS T-B-NK+ type Athabascan","DICS T-B-NK+ type alymphocytose","Déficit immunitaire combiné sévère T-B-NK+ type Athabascan","IDCS T-B-NK+ type Athabascan","IDCS T-B-NK+ type alymphocytose","SCID T-B-NK+ par déficit en ARTEMIS","SCID T-B-NK+ type Athabascan","SCID T-B-NK+ type alymphocytose"],"definition":"Le déficit immunitaire combiné sévère (DICS) type alymphocytosique est un DICS caractérisé par des infections sévères et récurrentes, des diarrhées, un retard de croissance staturo-pondérale et une sensibilité cellulaire excessive aux radiations ionisantes."},"de":{"name":"Immundefekt, kombinierter schwerer, T-B-NK+, durch DCLRE1C-Mangel","synonyms":["T-B-NK+ SCID vom Athabasken-Typ","T-B-NK+ SCID durch ARTEMIS-Defizienz","T-B-NK+ SCID durch DCLRE1C-Defizienz","Immundefekt, kombinierter schwerer, T-B-NK+, Athabasken-Typ","Immundefekt, kombinierter schwerer, T-B-NK+, durch ARTEMIS-Mangel"],"definition":"Der kombinierte schwere Immundefekt (SCID) mit DCLRE1C-Mangel, ein Typ des SCID (siehe dort), ist gekennzeichnet durch schwere und rezidivierende Infektionen, Diarrhöe, Gedeihstörung und erhöhter Sensitivität der Zellen gegenüber ionisierender Strahlung."},"es":{"name":"Inmunodeficiencia combinada grave T-B-NK+ por deficiencia de DCLRE1C","synonyms":["IDCG T-B-NK+ por deficiencia de ARTEMIS","SCID T-B-NK+ por deficiencia de ARTEMIS","IDCG T-B-NK+ por deficiencia de DCLRE1C","SCID T-B-NK+ por deficiencia de DCLRE1C","IDCG T-B-NK+, tipo Athabascan","SCID T-B-NK+, tipo Athabascan","IDCG T-B-NK+, tipo Athabaskan","SCID T-B-NK+, tipo Athabaskan","Inmunodeficiencia combinada grave T-B-NK+ por deficiencia de ARTEMIS","Inmunodeficiencia combinada grave T-B-NK+ tipo Athabascan","Inmunodeficiencia combinada grave T-B-NK+ tipo Athabaskan"],"definition":"La inmunodeficiencia combinada grave (IDCG) por déficit de DCLRE1C es un tipo de IDCG (consulta este término) caracterizada por infecciones graves y recurrentes, diarrea, retraso en el crecimiento, y sensibilidad celular a la radiación ionizante."},"it":{"name":"Immunodeficienza combinata grave T-B-NK+ da deficit di DCLRE1C","synonyms":["Immunodeficienza combinata grave T-B-NK+, tipo Athabascan","Immunodeficienza combinata grave T-B-NK+, tipo Athabaskan","Immunodeficienza da deficit di ARTEMIS","SCID T-B-NK+, tipo Athabascan","SCID T-B-NK+, tipo Athabaskan","SCID T-B-NK+ da deficit di ARTEMIS","SCID T-B-NK+ da deficit di DCLRE1C"],"definition":"L'immunodeficienza combinata grave (SCID) da deficit di DCLRE1C è una forma di SCID (si veda questo termine) caratterizzata da infezioni gravi e ricorrenti, diarrea, ritardo della crescita, e ipersensibilità delle cellule alle radiazioni ionizzanti."},"nl":{"name":"T-B-NK+ ernstige gecombineerde immuundeficiëntie door DCLRE1C-deficiëntie","synonyms":["SCID T-B-NK+ door ARTEMIS-deficiëntie","SCID T-B-NK+ door DCLRE1C-deficiëntie","SCID T-B-NK+, Athabaskisch type","T-B-NK+ ernstige gecombineerde immuundeficiëntie door ARTEMIS-deficiëntie","T-B-NK+ ernstige gecombineerde immuundeficiëntie, Athabaskisch type"],"definition":"Ernstige gecombineerde immuundeficiëntie (SCID) door DCLRE1C-deficiëntie is een vorm van SCID (zie deze term) die wordt gekarakteriseerd door ernstige en weerkerende infecties, diarree, groeiachterstand, en gevoeligheid van cellen voor ioniserende straling."},"pt":{"name":"Imunodeficiência combinada grave T-B-NK+ por deficiência de DCLRE1C","synonyms":["Agamaglobulinemia, tipo alinfocítico","Imunodeficiência combinada grave, tipo alinfocítico"],"definition":"A imunodeficiência combinada grave (SCID) devido à deficiência de DCLRE1C é um tipo de SCID caracterizada por infeções graves e recorrentes, diarreia, dificuldade de crescimento e sensibilidade celular à radiação ionizante."},"pl":{"name":"Ciężki złożony niedobór odporności z powodu niedoboru DCLRE1C","synonyms":["SCID, typ atabaskański","SCID, typ atapaskański","SCID z powodu niedoboru ARTEMIS","SCID z powodu niedoboru DCLRE1C","Ciężki złożony niedobór odporności, typ atabaskański","Ciężki złożony niedobór odporności, typ atapaskański","Ciężki złożony niedobór odporności z powodu niedoboru ARTEMIS"]},"cs":{"name":"Těžká kombinovaná imunodeficience způsobená deficitem DCLRE1C","synonyms":["Athabaskan SCID","SCID způsobená deficitem DCLRE1C","SCID způsobená mutací v genu artemis","Těžká kombinovaná imunodeficience způsobená mutací v genu artemis","Těžká kombinovaná imunodeficience, Athabaskan typ"]},"uk":{"name":"Тяжкий комбінований імунодефіцит, зумовлений дефіцитом DCLRE1C","synonyms":["ТКІД через дефіцит АРТЕМІСУ","ТКІД внаслідок дефіциту DCLRE1C","ТКІД, атабаський тип","ТКІД, атабаський тип","Тяжкий комбінований імунодефіцит, спричинений дефіцитом АРТЕМІС","Тяжкий комбінований імунодефіцит, тип Атабаскан","Тяжкий комбінований імунодефіцит, атабаський тип"],"definition":"Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation."},"zh":{"name":"DCLRE1C缺陷所致重症联合免疫缺陷","synonyms":["ARTEMIS缺乏所致重症联合免疫缺陷"]},"tr":{"name":"DCLRE1C eksikliğine bağlı ağır kombine immün yetmezlik","synonyms":["SCID, Athabascan türü","SCID, Athabaskan türü","ARTEMIS eksikliğine bağlı SCID","DCLRE1C eksikliğine bağlı SCID","Ağır kombine immün yetmezlik, Athabascan tipi","Ağır kombine immün yetmezlik, Athabaskan tipi","ARTEMIS eksikliğine bağlı ağır kombine immün yetmezlik"]}},"xrefs":[{"source":"OMIM","code":"602450","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1242093136"},{"source":"MONDO","code":"0011225","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536786","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865371","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9987","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":720314,"name":"T-B-NK+ severe combined immunodeficiency without microcephaly","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"DCLRE1C","name":"DNA cross-link repair 1C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12055248[PMID]","hgnc":"17642","ensembl":"ENSG00000152457","omim":"605988","loci":["10p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-07-09","source":"39425552[PMID]","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:0001890","label":"Autoimmune hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031292","label":"Cutaneous abscess","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000070","label":"Cutaneous granuloma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002720","label":"Decreased circulating IgA level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004315","label":"Decreased circulating IgG level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005390","label":"Recurrent opportunistic infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200117","label":"Recurrent upper and lower respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200043","label":"Verrucae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001973","label":"Autoimmune thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009098","label":"Chronic oral candidiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045080","label":"Decreased proportion of CD3-positive T cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002041","label":"Intractable diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005681","label":"Juvenile rheumatoid arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011107","label":"Recurrent aphthous stomatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031123","label":"Recurrent gastroenteritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011274","label":"Recurrent mycobacterial infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004429","label":"Recurrent viral infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000872","label":"Hashimoto thyroiditis","frequency":"Very rare (<4-1%)","criteria":null}]}}