{"orpha":275517,"name":"Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ALPS-recurrent viral infections due to CASP8 deficiency","Autoimmune lymphoproliferative syndrome-recurrent viral infections due to Caspase 8 deficiency","CEDS","Caspase 8 deficiency syndrome"],"definition":"A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-275517/","orphanet_url":"https://www.orpha.net/en/disease/detail/275517","names":{"fr":{"name":"Syndrome lymphoprolifératif auto-immun-infections virales récurrentes par déficit en CASP8","synonyms":["ALPS-infections virales récurrentes par déficit en CASP8","CEDS","SLAI-infections virales récurrentes par déficit en CASP8","Syndrome de déficit en caspase 8","Syndrome lymphoprolifératif auto-immun-infections virales récurrentes par déficit en caspase 8","Syndrome lymphoprolifératif avec auto-immunité-infections virales récurrentes par déficit en CASP8"],"definition":"Le syndrome lymphoprolifératif auto-immun (SLAI) avec infections virales récurrentes est une maladie génétique rare caractérisée par une lymphadénopathie et/ou une splénomégalie, et par des infections causées par le virus de l'herpès."},"de":{"name":"Autoimmun-lymphoproliferatives Syndrom mit rezidivierenden Infekten durch CASP8-Defizienz","synonyms":["ALPS-rezidivierende virale Infektionen aufgrund von CASP8-Mangel","CEDS","Caspase 8-Mangel-Syndrom","Caspase-8-Defizienz"]},"es":{"name":"Síndrome linfoproliferativo autoinmune-infecciones virales recurrentes por deficiencia de CASP8","synonyms":["SLPA-infecciones virales recurrentes por deficiencia de CASP8","Síndrome de deficiencia de caspasa 8","Síndrome linfoproliferativo autoinmune-infecciones virales recurrentes por deficiencia de caspasa 8"],"definition":"Es un trastorno de origen genético poco frecuente caracterizado por linfadenopatía y/o esplenomegalia e infecciones recurrentes debido al virus del herpes."},"it":{"name":"Sindrome linfoproliferativa autoimmune con infezioni virali ricorrenti dovute a deficit di caspasi 8","synonyms":["CEDS","Simile ad ALPS","ALPS con infezioni virali ricorrenti da deficit di CASP8","Sindrome da deficit di caspasi 8","Sindrome linfoproliferativa autoimmune con infezioni virali ricorrenti da deficit della caspasi 8"]},"nl":{"name":"Auto-immuun lymfoproliferatief syndroom-recidiverende virale infecties door CASP8-deficiëntie","synonyms":["ALPS-recidiverende virale infecties door CASP8-deficiëntie","Auto-immuun lymfoproliferatief syndroom-recidiverende virale infecties door deficiëntie van Caspase8","CEDS","Caspase 8-deficiëntiesyndroom"],"definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door lymfadenopathie en/of splenomegalie en terugkerende infecties door herpesvirussen."},"pt":{"name":"Síndrome linfoproliferativa autoimune-infeções virais recorrentes devido a deficiência CASP8","synonyms":["CEDS","Infeções víricas ALPS-recorrentes devido a deficiência CASP8","Síndrome de deficiência caspase 8","Síndrome linfoproliferativa autoimune-infeções virais recorrentes devido a deficiência de caspase 8"]},"pl":{"name":"Autoimmunologiczny zespół limfoproliferacyjny – nawracające infekcje wirusowe spowodowane niedoborem CASP8","synonyms":["ALPS z nawracającymi infekcjami","CEDS","Stan niedoboru kaspazy ósmej","Zespół niedoboru kaspazy 8"]},"cs":{"name":"Autoimunitní lymfoproliferativní syndrom s rekurentními virovými infekcemi","synonyms":["ALPS s rekurentními virovými infekcemi","CEDS","Syndrom deficitu kaspázy 8","Stav deficitu kaspázy 8"]},"uk":{"name":"Аутоімунний лімфопроліферативний синдром - рецидивуючі вірусні інфекції через дефіцит CASP8","synonyms":["ALPS-рецидивуючі вірусні інфекції, спричинені дефіцитом CASP8","Аутоімунний лімфопроліферативний синдром - рецидивуючі вірусні інфекції, спричинені дефіцитом каспази 8","Синдром дефіциту каспази 8","CEDS"],"definition":"A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses."},"zh":{"name":"自身免疫性淋巴细胞增生综合征伴复发性病毒感染","synonyms":["ALPS伴复发性病毒感染"],"definition":"一种罕见的遗传性疾病，其特征为淋巴结病和/或脾肿大以及由疱疹病毒引起的反复感染。"},"tr":{"name":"Tekrarlayan viral enfeksiyonlar ile seyreden otoimmün lenfoproliferatif sendrom","synonyms":["CEDS","Kaspaz 8 eksikliği sendromu","Tekrarlayan viral enfeksiyonlar ile seyreden ALPS"]}},"xrefs":[{"source":"OMIM","code":"607271","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D47.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.22","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"867549613"},{"source":"MONDO","code":"0011804","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846545","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9796","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":169355,"name":"Immunodeficiency syndrome with autoimmunity","classifications":[156,195,233]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"CASP8","name":"caspase 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21447005[PMID]_16446975[PMID]_20301287[PMID]","hgnc":"1509","ensembl":"ENSG00000064012","omim":"601763","loci":["2q33.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12353035[PMID]"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"12353035[PMID]_Dr Koneti RAO[EXPERT]"}],"phenotypes":null}