{"orpha":169467,"name":"Recurrent Neisseria infections due to factor D deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to <i> Neisseria </i> bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169467/","orphanet_url":"https://www.orpha.net/en/disease/detail/169467","names":{"fr":{"name":"Infections récurrentes à Neisseria par déficit en facteur D","definition":"Déficit immunitaire primaire rare d'origine génétique caractérisé par une susceptibilité accrue aux infections bactériennes à <i>Neisseria</i>, résultant d'un déficit en facteur D du complément, se manifestant typiquement par des infections respiratoires récurrentes, des méningites récurrentes et/ou par des septicémies. Les patients présentent généralement une fièvre, une éruption purpurique, des arthralgies, des myalgies et des concentrations plasmatiques de facteur D du complément indétectables."},"de":{"name":"Neisseria-Infektionen, rekurrente, durch Faktor D-Mangel"},"es":{"name":"Infecciones recurrentes de Neisseria por deficiencia de factor D","definition":"Las infecciones recurrentes de Neisseria por deficiencia del factor D son un trastorno de inmunodeficiencia primaria, genético y poco frecuente, caracterizado por una mayor susceptibilidad a las infecciones bacterianas causadas por <i>Neisseria</i>, como resultado de la deficiencia del factor D del complemento, que se manifiesta generalmente con infecciones respiratorias recurrentes, meningitis recurrente y/o septicemia. Los afectados suelen presentar fiebre, erupción purpúrica, artralgia, mialgia y concentraciones plasmáticas indetectables del factor D del complemento."},"it":{"name":"Infezioni ricorrenti di Neisseria da deficit del fattore D","definition":"Le infezioni ricorrenti di Neisseria da deficit del fattore D configurano un'immunodeficienza primitiva genetica rara, associata ad un aumento della suscettibilità alle infezioni batteriche da Neisseria, causata da un deficit del fattore D del complemento. Di solito esordisce con infezioni respiratorie e meningite ricorrenti e/o setticemia. In genere i pazienti presentano febbre, eritemi pruriginosi, artralgia, mialgia e concentrazioni non misurabili nel plasma del fattore D del complemento."},"nl":{"name":"Recurrente Neisseria-infecties door factor D-deficiëntie","definition":"Recurrente Neisseria-infecties door factor D-deficiëntie is een zeldzame, genetische, primaire immuundeficiëntie die gekarakteriseerd wordt door een verhoogde vatbaarheid voor bacteriële infecties met <i>Neisseria</i> als gevolg van deficiëntie van complementfactor D, en die zich typisch manifesteert als terugkerende respiratoire infecties, recurrente meningitis en/of bloedvergiftiging. Patiënten presenteren zich doorgaans met koorts, purpura-achtige uitslag, artralgie, myalgie en ondetecteerbare concentraties van complementfactor D in het plasma."},"pt":{"name":"Infeções recorrentes por Neisseria por deficiência de fator D"},"pl":{"name":"Nawracające zakażenia Neisserią z powodu niedoboru czynnika D"},"cs":{"name":"Rekurentní Neisseriové infekce způsobené deficitem faktoru D"},"uk":{"name":"Рецидивуючі інфекції Neisseria через дефіцит фактора D","definition":"Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to <i> Neisseria </i> bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations."},"zh":{"name":"D因子缺乏所致复发性奈瑟菌感染","definition":"D因子缺陷所致复发性奈瑟菌感染是一种罕见的遗传性原发性免疫缺陷疾病，其特征为补体因子D缺陷导致容易感染 奈瑟菌 ，其主要临床表现为反复呼吸道感染、复发性脑膜炎和（或）败血病。患者通常出现发热、紫癜、关节痛、肌痛，血清中无法检测到补体D因子。"},"tr":{"name":"Faktör D eksikliğine bağlı tekrarlayan Neisseria enfeksiyonları"}},"xrefs":[{"source":"OMIM","code":"613912","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"528757185"},{"source":"MONDO","code":"0013487","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190780","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":459348,"name":"Immunodeficiency due to a complement regulatory deficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"CFD","name":"complement factor D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16527897[PMID]","hgnc":"2771","ensembl":"ENSG00000197766","omim":"134350","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}