{"orpha":169147,"name":"Immunodeficiency due to a classical component pathway complement deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Immunodeficiency due to C1, C4, or C2 component complement deficiency","Immunodeficiency due to an early component of complement deficiency"],"definition":"A rare primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169147/","orphanet_url":"https://www.orpha.net/en/disease/detail/169147","names":{"fr":{"name":"Immunodéficence due à un déficit des composés classiques de la voie classique du complément","synonyms":["Immunodéficence due à un déficit de C1, C2 ou C4","Immunodéficence due à un déficit des composés précoces de la voie classique du complément"],"definition":"Déficit immunitaire primaire par déficit de l'un des composants du complément C1q, C1r, C1s, C2 ou C4, caractérisé par une susceptibilité accrue aux infections bactériennes, en particulier aux bactéries encapsulées, et par un risque accru de maladie auto-immune. Il s'agit le plus souvent du lupus érythémateux disséminé (LED), d'une maladie de type LED, du purpura de Henoch-Schönlein, de la polymyosite et de l'arthralgie. La gravité de la maladie varie en fonction du complément affecté."},"de":{"name":"Immundefekt durch klassischen Komponentenmangel des Komplementsystems","synonyms":["Immundefekt durch Komplementdefekt bei Störung einer frühen Komponente","Komplementdefekt bei Mangel der frühen Komponenten C1, C4 oder C2"]},"es":{"name":"Inmunodeficiencia por deficiencia de un componente de la vía clásica del complemento","synonyms":["Inmunodeficiencia por deficiencia de componentes precoces del complemento","Inmunodeficiencia por deficiencia de los componentes C1, C4 o C2 del complemento"],"definition":"La inmunodeficiencia por deficiencia de componentes de la vía clásica del complemento es una inmunodeficiencia primaria debida a una deficiencia de cualquiera de los componentes del complemento: C1q, C1r, C1s, C2 o C4. Está caracterizada por una mayor susceptibilidad a las infecciones bacterianas, específicamente por bacterias encapsuladas, y un mayor riesgo de enfermedad autoinmune. Por lo general, incluye lupus eritematoso sistémico (LES), enfermedades parecidas a LES, púrpura de Henoch-Schönlein, polimiositis y artralgia. La gravedad de la enfermedad es variable y depende del componente del complemento afectado."},"it":{"name":"Immunodeficienza da deficit di una componente della via classica del complemento","synonyms":["Immunodeficienza da deficit dei componenti del complemento C1, C4 o C2"],"definition":"L'immunodeficienza da deficit di una componente della via classica del complemento è un'immunodeficienza primitiva causata da deficit dei componenti C1q, C1r, C1s, C2 o C4 del complemento; è caratterizzata da un aumento della suscettibilità alle infezioni batteriche, in particolare quelle da batteri incapsulati, e dal rischio di sviluppare malattie autoimmuni, tra le quali in particolare il lupus eritematoso sistemico (LES), la malattia simil-LES, la porpora di Henoch-Schonlein, la polimiosite e l'artralgia. La gravità della malattia è variabile e dipende dal complemento interessato."},"nl":{"name":"Immuundeficiëntie door deficiëntie van een component van de klassieke route van het complementsysteem","synonyms":["Immuundeficiëntie door deficiëntie van de C1-, C4- of C2-component van het complementsysteem","Immuundeficiëntie door deficiëntie van een vroege component van het complementsysteem"],"definition":"Immuundeficiëntie door deficiëntie van een component van de klassieke route van het complementsysteem is een primaire immuundeficiëntie als gevolg van een deficiëntie van complementcomponent C1q, C1r, C1s, C2 of C4, en wordt gekarakteriseerd door verhoogde susceptibiliteit voor bacteriële infecties, voornamelijk door ingekapselde bacteriën, en een verhoogd risico op auto-immuunziekte. Deze laatste omvat meestal systemische lupus erythematosus (SLE), SLE-achtige ziekte, purpura van Henoch-Schonlein, polymyositis en artralgie. De ernst van de ziekte is variabel en afhankelijk van de getroffen component."},"pt":{"name":"Imunodeficiência por deficiência de componente da via clássica do complemento"},"pl":{"name":"Niedobór odporności z powodu deficytu wczesnych składników układu dopełniacza","synonyms":["Niedobór odporności z powodu deficytu składników C1, C4, lub C2 układu dopełniacza"]},"cs":{"name":"Imunodeficience způsobená poruchou složky klasické dráhy komplementu","synonyms":["Imunodeficience způsobená poruchou složek C1, C4 nebo C2 komplementu","Imunodeficience způsobená poruchou časné složky komplementu"]},"uk":{"name":"Імунодефіцит, зумовлений дефіцитом класичного компонента шляху комплементу","synonyms":["Імунодефіцит через ранній компонент дефіциту комплементу","Імунодефіцит внаслідок дефіциту С1, С4 або С2 компонентів комплементу"],"definition":"A rare primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected."},"zh":{"name":"经典途径补体缺乏所致免疫缺陷","synonyms":["C1,C4或C2补体缺乏所致免疫缺陷"],"definition":"经典激活途径补体缺陷所致免疫缺陷病是一种原发性免疫缺陷病，由于补体成分C1q、C1r、C1s、C2或C4缺陷所致，其特征为细菌感染的易感性增加，尤其是荚膜细菌。同时自身免疫性疾病的风险增加，最常见的临床表现为系统性红斑狼疮（SLE）、系统性红斑狼疮样疾病、过敏性紫癜、多发性肌炎和关节痛。疾病的严重程度不等，与受累的补体有关。"},"tr":{"name":"Klasik bileşen yolu tamamlayıcı eksikliğine bağlı immün yetmezlik","synonyms":["Kompleman eksikliğinin erken bir bileşenine bağlı immün yetmezlik","C1, C4 veya C2 bileşen kompleman eksikliğine bağlı immün yetmezlik"]}},"xrefs":[{"source":"OMIM","code":"216950","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"217000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613652","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613783","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614379","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614380","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620321","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620322","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"327609494"},{"source":"MONDO","code":"0015699","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0398750","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1452","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":"C1QA","name":"complement C1q A chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1241","ensembl":"ENSG00000173372","omim":"120550","loci":["1p36.12"]},{"symbol":"C1QB","name":"complement C1q B chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1242","ensembl":"ENSG00000173369","omim":"120570","loci":["1p36.12"]},{"symbol":"C1QC","name":"complement C1q C chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1245","ensembl":"ENSG00000159189","omim":"120575","loci":["1p36.12"]},{"symbol":"C1R","name":"complement C1r","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22773339[PMID]","hgnc":"1246","ensembl":"ENSG00000159403","omim":"613785","loci":["12p13.31"]},{"symbol":"C1S","name":"complement C1s","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1247","ensembl":"ENSG00000182326","omim":"120580","loci":["12p13.31"]},{"symbol":"C2","name":"complement C2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1248","ensembl":"ENSG00000166278","omim":"613927","loci":["6p21.33"]},{"symbol":"C4A","name":"complement C4A (Chido/Rodgers blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1323","ensembl":"ENSG00000244731","omim":"120810","loci":["6p21.33"]},{"symbol":"C4B","name":"complement C4B (Chido/Rodgers blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1324","ensembl":"ENSG00000224389","omim":"120820","loci":["6p21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}