{"orpha":200418,"name":"Immunodeficiency with factor I anomaly","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Complete factor I deficiency"],"definition":"A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by <i>Neisseria meningitidis</i>, <i>Haemophilus influenzae</i> and <i>Streptococcus pneumoniae</i>), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-200418/","orphanet_url":"https://www.orpha.net/en/disease/detail/200418","names":{"fr":{"name":"Déficit immunitaire associé à une anomalie du facteur I","synonyms":["Déficit complet en facteur I","Immunodéficience associée à une anomalie du facteur I"],"definition":"Déficit immunitaire primaire rare d'origine génétique caractérisé par une susceptibilité accrue aux infections récurrentes, généralement graves (en particulier à <i>Neisseria meningitidis</i>, <i>Haemophilus influenzae</i> et à <i>Streptococcus pneumoniae</i>), se manifestant typiquement par une otite, une sinusite, une bronchite, une pneumonie et/ou une méningite. Une maladie auto-immune (lupus érythémateux disséminé, glomérulonéphrite) et un syndrome hémolytique et urémique atypique peuvent être associés. L'analyse du sérum en laboratoire révèle, outre des valeurs diminuées ou indétectables du facteur I du complément, une diminution variable des facteurs C3, B et H."},"de":{"name":"Immundefekt mit Faktor I-Anomalie","synonyms":["Faktor-I-Mangel, vollständiger"]},"es":{"name":"Inmunodeficiencia con anomalía del factor I","synonyms":["Deficiencia completa del factor I"],"definition":"La inmunodeficiencia con anomalía del factor I es una inmunodeficiencia primaria, genética y poco frecuente, caracterizada por una mayor susceptibilidad a infecciones recurrentes, generalmente graves (particularmente por <i>Neisseria meningitidis</i>, <i>Haemophilus influenzae</i> y <i>Streptococcus pneumonia </i>), que típicamente se manifiestan como otitis, sinusitis, bronquitis, neumonía y/o meningitis. Pueden estar asociados una enfermedad autoinmune (p. ej., lupus eritematoso sistémico, glomerulonefritis) y el síndrome urémico hemolítico atípico. El análisis de suero revela, además de valores disminuidos o indetectables del factor I del complemento, una disminución variable de los factores C3, B y H."},"it":{"name":"Immunodeficienza con anomalia del fattore I","definition":"L'immunodeficienza con anomalia del fattore I è un'immunodeficienza primitiva genetica rara, caratterizzata da un aumento della suscettibilità alle infezioni ricorrenti e di solito gravi (in particolare da <i>Neisseria meningitidis</i>, <i>Haemophilus influenzae</i> e <i>Streptococcus pneumoniae</i>), che in genere esordiscono con otite, sinusite, bronchite, polmonite e/o meningite. Può associarsi a malattie autoimmuni (ad es. lupus eritematoso sistemico, glomerulonefrite) e alla sindrome emolitico-uremica atipica. Le analisi di laboratorio sul siero evidenziano livelli bassi o non rilevabili del fattore I del complemento, una diminuzione di grado variabile del complemento C3, del fattore B e del fattore H del complemento."},"nl":{"name":"Immuundeficiëntie met factor I-anomalie","synonyms":["Complete factor I-deficiëntie"],"definition":"Immuundeficiëntie met factor I-anomalie is een zeldzame, genetische, primaire immuundeficiëntie, en wordt gekarakteriseerd door verhoogde vatbaarheid voor recurrente, meestal ernstige, infecties (voornamelijk met <i>Neisseria meningitidis</i>, <i>Haemophilus influenzae</i> en <i>Streptococcus pneumonia</i>) die zich doorgaans manifesteren als otitis, sinusitis, bronchitis, pneumonie, en/of meningitis. auto-immuunziekte (e.g. systemische lupus erythematosus, glomerulonefritis) en atypisch hemolytisch uremisch syndroom kunnen geassocieerd zijn. Laboratoriumanalyse van serum toont, naast verminderde of niet detecteerbare complement factor I, variabele vermindering van complementcomponent 3 (C3), complementfactor B en complementfactor H."},"pt":{"name":"Imunodeficiência com anomalia do fator I"},"pl":{"name":"Niedobór odporności z nieprawidłowym czynnikiem I","synonyms":["Complete factor I deficiency"]},"cs":{"name":"Imunodeficience s anomálií faktoru I","synonyms":["Complete factor I deficiency"]},"uk":{"name":"Імунодефіцит з аномалією фактора I","synonyms":["Повний дефіцит фактора I"],"definition":"A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by <i>Neisseria meningitidis</i>, <i>Haemophilus influenzae</i> and <i>Streptococcus pneumoniae</i>), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H."},"zh":{"name":"免疫缺陷伴I因子异常","synonyms":["I因子完全缺乏症"],"definition":"免疫缺陷伴补体因子I异常是一种罕见的遗传性原发性免疫缺陷疾病，其主要临床表现为易发生严重反复感染性疾病（尤其是由脑膜炎奈瑟菌、 流感嗜血杆菌和 肺炎链球菌），通常表现为中耳炎、鼻窦炎、支气管炎，肺炎和（或）脑膜炎。可能与自身免疫性疾病（e.g. 系统性红斑狼疮、肾小球肾炎）和非典型溶血性尿毒综合征相关。实验室血清分析显示，补体因子I减少或缺如，补体C3、补体因子B和补体因子H水平不同程度的降低。"},"tr":{"name":"Faktör I anomalisi ile seyreden immün yetmezlik","synonyms":["Tam faktör I eksikliği"]}},"xrefs":[{"source":"OMIM","code":"610984","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":"182877663"},{"source":"MONDO","code":"0012594","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191010","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":"CFI","name":"complement factor I","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"5394","ensembl":"ENSG00000205403","omim":"217030","loci":["4q25"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"22710145[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}