{"orpha":317425,"name":"T-B-NK+ severe combined immunodeficiency due to DNA-PKcs deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["T-B-NK+ SCID due to DNA-PKcs deficiency"],"definition":"Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-317425/","orphanet_url":"https://www.orpha.net/en/disease/detail/317425","names":{"fr":{"name":"Déficit immunitaire combiné sévère T-B-NK+ par déficit en DNA-PKcs","synonyms":["DICS T-B-NK+ par déficit en DNA-PKcs","IDCS T-B-NK+ par déficit en DNA-PKcs","Immunodéficience combinée sévère T-B-NK+ par déficit en DNA-PKcs","SCID T-B-NK+ par déficit en DNA-PKcs"],"definition":"Le déficit immunitaire combiné sévère (DICS) par déficit en DNA-PKcs est un type très rare de DICS, avec les symptômes classiques du DICS (infections sévères et récurrentes, diarrhée, retard de croissance staturo-pondérale), absence de lymphocytes T et B, et sensibilité cellulaire excessive aux radiations ionisantes."},"de":{"name":"Immundefekt, kombinierter schwerer, T-B-NK+, durch DNA-PKcs-Mangel","synonyms":["T-B-NK+ SCID durch DNA-PKcs-Defizienz"],"definition":"Der kombinierte schwere Immundefekt (SCID) durch DNA-PKcs-Mangel ist ein extrem seltener Typ des SCID (siehe dort), der durch die klassischen Anzeichen des SCID (schwere und rekurrierende Infektionen, Diarrhöe, Gedeihstörung), das Fehlen von T- und B-Lymphozyten und eine Zellsensitivität gegenüber ionisierender Strahlung gekennzeichnet ist."},"es":{"name":"Inmunodeficiencia combinada grave T-B-NK+ por deficiencia de DNA-PKcs","synonyms":["IDCG T-B-NK+ por deficiencia de DNA-PKcs","SCID T-B-NK+ por deficiencia de DNA-PKcs"],"definition":"La inmunodeficiencia combinada grave (IDCG) por déficit de DNA-PKcs es un tipo de IDCG (consulte este término) extremadamente poco frecuente, que se caracteriza por los signos clásicos de la IDCG (infecciones graves y recurrentes, diarrea, retraso en el crecimiento), ausencia de linfocitos T y B, y sensibilidad celular a la radiación ionizante."},"it":{"name":"Immunodeficienza combinata grave T-B-NK+ da deficit di DNA-PKcs","synonyms":["SCID T-B-NK+ da deficit di DNA-PKcs"],"definition":"L'immunodeficienza combinata grave (SCID) da deficit di DNA-PKcs è una forma estremamente rara di SCID (si veda questo termine), caratterizzata dai segni classici della SCID (infezioni gravi e ricorrenti, diarrea, ritardo della crescita), assenza dei linfociti T e B, e iperpersensibilità delle cellule alle radiazioni ionizzanti."},"nl":{"name":"T-B-NK+ ernstige gecombineerde immuundeficiëntie door DNA-PKcs-deficiëntie","synonyms":["T-B-NK+ SCID door DNA-PKcs-deficiëntie"],"definition":"Ernstige gecombineerde immuundeficiëntie (SCID) door DNA-PKcs-deficiëntie is een uiterst zeldzaam type van SCID (zie deze term) die wordt gekarakteriseerd door de klassieke kenmerken van SCID (ernstige en terugkerende infecties, diarree, groeiachterstand), afwezigheid van T- en B-lymfocyten, en gevoeligheid van cellen voor ioniserende straling."},"pt":{"name":"Imunodeficiência combinada grave por deficiência de ADN-PKcs","synonyms":["SCID por deficiência de ADN-PKcs"]},"pl":{"name":"Ciężki złożony Niedobór odporności z powodu deficytu DNA-PKcs","synonyms":["SCID z powodu niedoboru DNA-PKcs"]},"cs":{"name":"Těžká kombinovaná imunodeficience způsobená deficitem DNA-PKcs","synonyms":["SCID způsobená deficitem DNA-PKcs (DNA dependentní protein kináza - katalytická podjednotka)"]},"uk":{"name":"Тяжкий комбінований імунодефіцит, зумовлений дефіцитом ДНК-PKcs","synonyms":["ТКІД внаслідок дефіциту ДНК-PKcs"],"definition":"Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation."},"zh":{"name":"DNA-PKcs缺陷所致重症联合免疫缺陷","synonyms":["DNA-PKcs缺陷所致SCID"],"definition":"DNA-PKcs缺陷所致重症联合免疫缺陷（SCID）是一种极其罕见的SCID类型（见本术语），其特征是重症联合免疫缺陷（严重和反复感染、腹泻、生长发育迟滞）、缺乏T和B淋巴细胞以及细胞对电离辐射敏感。"},"tr":{"name":"DNA-PKcs eksikliğine bağlı ağır kombine immün yetmezlik","synonyms":["DNA-PKcs eksikliğine bağlı SCID"]}},"xrefs":[{"source":"OMIM","code":"615966","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"304311373"},{"source":"MONDO","code":"0014423","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274221","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":720308,"name":"T-B-NK+ severe combined immunodeficiency with microcephaly","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"PRKDC","name":"protein kinase, DNA-activated, catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19823081[PMID]","hgnc":"9413","ensembl":"ENSG00000253729","omim":"600899","loci":["8q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"19075392[PMID]_23722905[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19075392[PMID]_23722905[PMID]"}],"phenotypes":null}