{"orpha":169150,"name":"Immunodeficiency due to a late component of complement deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Immunodeficiency due to C5 to C9 component complement deficiency","Terminal complement pathway deficiency"],"definition":"Immunodeficiency due to a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to often recurrent meningococcal infections. The prognosis is generally favorable.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169150/","orphanet_url":"https://www.orpha.net/en/disease/detail/169150","names":{"fr":{"name":"Déficit immunitaire par déficit des composés terminaux de la voie classique du complément","synonyms":["Immunodéficience par déficit d'un des composés C5 à C9 du complément"],"definition":"Déficit immunitaire primaire dû à une anomalie des composés C5, C6, C7, C8 ou C9 du complément qui se caractérise typiquement par une méningite due à des infections méningococciques souvent récurrentes. Le pronostic est généralement favorable."},"de":{"name":"Immundefekt durch Komplementdefekt bei Störung einer späten Komponente","synonyms":["Immundefekt durch Komplementdefekt bei C5 bis C9 Störung","Komplementdefekt bei terminalen C-Defekt (C5 bis C9)","Störung des terminalen Komplementkomplex"]},"es":{"name":"Inmunodeficiencia por deficiencia de un componente tardío del complemento","synonyms":["Deficiencia en la vía terminal del complemento","Inmunodeficiencia por deficiencia de los componentes C5 a C9 del complemento"],"definition":"La inmunodeficiencia por deficiencia de un componente tardío del complemento es una inmunodeficiencia primaria debida a una anomalía en los componentes C5, C6, C7, C8 o C9 del complemento y se caracteriza típicamente por meningitis debida a infecciones meningocócicas frecuentes y recurrentes. Por lo general, el pronóstico es favorable."},"it":{"name":"Immunodeficienza da deficit di una componente tardiva del complemento","synonyms":["Deficit della via terminale del complemento","Immunodeficienza da deficit dei componenti del complemento da C5 a C9"],"definition":"L'immunodeficienza da deficit di una componente tardiva del complemento è un'immunodeficienza primitiva causata da un'anomalia delle componenti C5, C6, C7, C8 o C9 del complemento. Di solito è caratterizzata da meningite secondaria alle infezioni da meningococco, spesso ricorrenti. In genere la prognosi è favorevole."},"nl":{"name":"Immuundeficiëntie door deficiëntie van een late component van het complementsysteem","synonyms":["Deficiëntie van de terminale route van het complementsysteem","Immuundeficiëntie door deficiëntie van een C5- tot C9-component van het complementsysteem"],"definition":"Immuundeficiëntie door deficiëntie van een late component van het complementsysteem is een primaire immuundeficiëntie als gevolg van een anomalie van complementcomponent C5, C6, C7, C8 of C9, en wordt doorgaans gekarakteriseerd door meningitis vanwege vaak terugkerende meningokokkeninfecties. De prognose is over het algemeen gunstig."},"pt":{"name":"Deficiência dos componentes tardios do complemento (C5 to C9)"},"pl":{"name":"Niedobór odporności wskutek niedoboru składowej terminalnego szlaku dopełniacza","synonyms":["Niedobór odporności z powodu deficytu składników od C5 do C9 układu dopełniacza","Niedobór składników terminalnego szlaku układu dopełniacza"],"definition":"*Niedobór odporności wskutek niedoboru składowej terminalnego szlaku dopełniacza jest pierwotnym niedoborem odporności, który jest związany z niedoborem któregokolwiek ze składników dopełniacza C5, C6, C7, C8 lub C9 i zazwyczaj charakteryzuje się zapaleniem opon mózgowych z powodu często nawracających zakażeń meningokokowych. Generalnie rokowanie jest korzystne."},"cs":{"name":"Imunodeficience způsobená poruchou pozdní složky komplementu","synonyms":["Porucha koncové dráhy komplementu","Imunodeficience způsobená poruchou složek C5 až C9 komplementu"]},"uk":{"name":"Імунодефіцит через дефіцит пізнього компоненту комплементу","synonyms":["Імунодефіцит внаслідок дефіциту С5-С9 компонентів комплементу","Дефіцит термінального шляху комплементу"],"definition":"Immunodeficiency due to a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to often recurrent meningococcal infections. The prognosis is generally favorable."},"zh":{"name":"经典途径晚期补体缺乏所致免疫缺陷","synonyms":["C5至C9补体缺乏所致免疫缺陷"],"definition":"补体终末成分缺乏所致免疫缺陷病是一种原发性免疫缺陷病，由于补体成分C5、C6、C7、C8或C9异常所致，其典型临床表现为脑膜炎球菌反复感染而导致脑膜炎反复发作，总体预后良好。"},"tr":{"name":"Kompleman eksikliğinin geç bileşenine bağlı immün yetmezlik","synonyms":["Terminal kompleman yolak eksikliği","C5 ila C9 bileşen kompleman eksikliğine bağlı immün yetmezlik"]}},"xrefs":[{"source":"OMIM","code":"609536","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610102","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612446","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613789","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613790","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613825","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.11","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"531050218"},{"source":"MONDO","code":"0015700","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0398765","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":459345,"name":"Immunodeficiency due to a complement cascade component deficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"C5","name":"complement C5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1331","ensembl":"ENSG00000106804","omim":"120900","loci":["9q33.2"]},{"symbol":"C6","name":"complement C6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1339","ensembl":"ENSG00000039537","omim":"217050","loci":["5p13.1"]},{"symbol":"C7","name":"complement C7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1346","ensembl":"ENSG00000112936","omim":"217070","loci":["5p13.1"]},{"symbol":"C8A","name":"complement C8 alpha chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1352","ensembl":"ENSG00000157131","omim":"120950","loci":["1p32.2"]},{"symbol":"C8B","name":"complement C8 beta chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1353","ensembl":"ENSG00000021852","omim":"120960","loci":["1p32.2"]},{"symbol":"C8G","name":"complement C8 gamma chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22773339[PMID]","hgnc":"1354","ensembl":"ENSG00000176919","omim":"120930","loci":["9q34.3"]},{"symbol":"C9","name":"complement C9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1358","ensembl":"ENSG00000113600","omim":"120940","loci":["5p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}