{"orpha":420573,"name":"EBV-induced lymphoproliferative disease due to CTPS1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EBV-induced lymphoproliferative disease due to CTP synthase 1 deficiency"],"definition":"A rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-420573/","orphanet_url":"https://www.orpha.net/en/disease/detail/420573","names":{"fr":{"name":"Maladie lymphoproliférative associée à l'EBV par déficit en CTPS1","synonyms":["Maladie lymphoproliférative associée au virus Epstein-Barr par déficit en protéine CTP synthase 1"],"definition":"Trouble rare d'immunodéficience primaire dû à une altération de la prolifération des lymphocytes B et T activés en réponse à l'activation médiée par le récepteur à l'antigène. Il se caractérise par des infections précoces, sévères, persistantes et/ou récurrentes par le virus Epstein-Barr (EBV) et Varicella Zoster (VZV, incluant la varicelle généralisée), ainsi que par des infections bactériennes sino-pulmonaires récurrentes causées par des pathogènes encapsulés."},"de":{"name":"EBV-induzierte lymphoproliferative Krankheit durch CTPS1-Mangel","synonyms":["EBV-induzierte lymphoproliferative Krankheit durch CTP-Synthase-1-Defizienz"],"definition":"Ein seltener primärer Immundefekt, der auf einer eingeschränkten Fähigkeit aktivierter T- und B-Zellen beruht, sich als Reaktion auf eine Antigenrezeptor-vermittelte Aktivierung zu vermehren. Er ist gekennzeichnet durch früh einsetzende, schwere, persistierende und/oder rezidivierende Virusinfektionen durch das Epstein-Barr-Virus (EBV) und das Varicella-Zoster-Virus (VZV, einschließlich generalisierter Varizellen) sowie durch rezidivierende sino-pulmonale bakterielle Infektionen durch eingekapselte Pathogene."},"es":{"name":"Enfermedad linfoproliferativa inducida por EBV por deficiencia de CTPS1","synonyms":["Enfermedad linfoproliferativa inducida por EBV por deficiencia de CTP sintasa 1"],"definition":"Es una inmunodeficiencia primaria poco frecuente debida a la alteración de la capacidad de las células T y B de proliferar en respuesta a la activación mediada por el receptor antigénico. Se caracteriza por un inicio temprano de infecciones víricas graves, persistentes y recurrentes, por el virus de Epstein-Barr (EBV) y el virus varicella zóster (VZV, incluyendo la varicela generalizada), así como de infecciones bacterianas sinopulmonares recurrentes por patógenos encapsulados."},"it":{"name":"Malattia linfoproliferativa indotta da EBV da deficit di CTPS1","synonyms":["Malattia linfoproliferativa indotta da EBV da deficit di CTP sintasi 1"],"definition":"L'immunodeficienza combinata grave (SCID) da deficit di CTPS1 è una malattia rara da immunodeficienza primitiva, causata dalla compromissione della capacità delle cellule T e B attivate di proliferare in risposta all'attivazione dell'antigene mediata dal recettore. È caratterizzata da infezioni virali gravi ad esordio precoce, persistenti e/o ricorrenti causate dal virus di Epstein-Barr (EBV) e dal virus Varicella Zoster (ZVZ, ivi compresa la varicella generalizzata) o da infezioni batteriche seno-polmonari ricorrenti causate da patogeni incapsulati."},"nl":{"name":"EBV-geïnduceerde lymfoproliferatieve ziekte door CTPS1-deficiëntie","synonyms":["EBV-geïnduceerde lymfoproliferatieve ziekte door deficiëntie van CTP-synthase 1"],"definition":"Een zeldzame primaire immuundeficiëntie door verstoorde capaciteit van geactiveerde T- en B-cellen om te prolifereren na antigenreceptor-gemedieerde activatie, gekenmerkt door vroeg optredende, ernstige, aanhoudende en/of recidiverende virale infectie met Epstein-Barrvirus (EBV) en Varicella-Zostervirus (VZV, inclusief gegeneraliseerde varicella), alsook recidiverende sinopulmonale bacteriële infectie door ingekapselde pathogenen."},"pt":{"name":"Imunodeficiência combinada grave por deficiência de CTPS1","synonyms":["SCID por deficiência de CTPS1"]},"pl":{"name":"Cieżki złożony Niedobór odporności z powodu niedoboru CTPS1","synonyms":["SCID z powodu niedoboru CTPS1"]},"cs":{"name":"Těžký kombinovaný imunodeficit způsobený deficitem CTPS1","synonyms":["SCID způsobená deficitem CTPS1"]},"uk":{"name":"Тяжкий комбінований імунодефіцит, зумовлений дефіцитом CTPS1","synonyms":["ТКІД внаслідок дефіциту CTPS1"],"definition":"A rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens."},"zh":{"name":"CTPS1缺陷导致的重症联合免疫缺陷","synonyms":["CTPS1缺乏导致的SCID"],"definition":"由于CTPS1缺乏导致的严重联合免疫缺陷（SCID）是一种罕见的原发性免疫缺陷疾病，原因是活化T细胞和B细胞对抗原受体介导的活化后的增殖能力降低。一般为早期发作、严重、持续和/或反复病毒感染，包括爱泼斯坦-巴尔病毒（EBV）和水痘带状疱疹病毒（VZV，包括普通水痘），以及由于有荚膜包囊的病原体引起的鼻腔-肺细菌反复感染。"},"tr":{"name":"CTPS1 eksikliğine bağlı ağır kombine immün yetmezlik","synonyms":["CTPS1 eksikliğine bağlı SCID"]}},"xrefs":[{"source":"OMIM","code":"615897","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014391","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706524","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":664456,"name":"Immune dysregulation disease with immunodeficiency associated with EBV susceptibility","classifications":[156,195]},{"orpha":664450,"name":"Inherited cancer-predisposing lymphoproliferative syndrome","classifications":[156,202]}],"children":[],"genes":[{"symbol":"CTPS1","name":"CTP synthase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24870241[PMID]","hgnc":"2519","ensembl":"ENSG00000171793","omim":"123860","loci":["1p34.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"29942301[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29942301[PMID]"}],"phenotypes":null}