{"orpha":331190,"name":"Immunodeficiency due to ficolin3 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with <i>Staphylococcus aureus</i> to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-331190/","orphanet_url":"https://www.orpha.net/en/disease/detail/331190","names":{"fr":{"name":"Déficit immunitaire par déficit en ficoline 3","synonyms":["Immunodéficience par déficit en ficoline 3"],"definition":"Déficit immunitaire rare dû à une anomalie de la cascade du complément, d'origine génétique, caractérisé par des taux sériques de ficoline 3 faibles ou indétectables, une susceptibilité aux infections et, éventuellement, une auto-immunité. La présentation est variable, allant d'une entérocolite nécrosante périnatale et des infections cutanées récurrentes à <i>Staphylococcus aureus</i> à des infections pulmonaires récurrentes à début infantile entraînant des abcès cérébraux et une fibrose pulmonaire, en passant par la néphropathie membraneuse. Chez certains patients, les conséquences cliniques de la maladie ne sont pas claires."},"de":{"name":"Immundefekt durch Ficolin-3-Mangel","definition":"Der Immundefekt durch Ficolin3-Mangel ist eine seltene, genetisch bedingte Immunstörung, die auf einer Anomalie der Komplementkaskadenproteine beruht und durch niedrige oder nicht nachweisbare Ficolin3-Serumspiegel, Anfälligkeit für Infektionen und möglicherweise Autoimmunität gekennzeichnet ist. Das Erscheinungsbild ist variabel und reicht von perinataler nekrotisierender Enterokolitis und rezidivierenden Hautinfektionen mit <i>Staphylococcus aureus</i> über im Kindesalter auftretende rezidivierende Lungeninfektionen, die zu Hirnabszessen und Lungenfibrose führen, bis hin zu membranöser Nephropathie. Bei einigen Patienten waren die klinischen Folgen des Ficolin3-Mangels unklar."},"es":{"name":"Inmunodeficiencia por deficiencia de ficolina3","definition":"La inmunodeficiencia debida a la deficiencia de ficolina-3, es una inmunodeficiencia de causa genética poco frecuente que produce una anomalía proteica en la cascada del complemento. Está caracterizada por niveles séricos bajos o indetectables de ficolina-3, susceptibilidad a infecciones y posiblemente autoinmunidad. La presentación es variable, desde enterocolitis necrotizante perinatal e infecciones cutáneas recurrentes por <i>Staphylococcus aureus</i> hasta infecciones pulmonares recurrentes de inicio en la infancia que conducen a abscesos cerebrales, fibrosis pulmonar y nefropatía membranosa. En algunos afectados, las consecuencias clínicas de la deficiencia de ficolina-3 no han sido bien establecidas."},"it":{"name":"Immunodeficienza da deficit di ficolina-3","definition":"L'immunodeficienza da deficit di ficolina 3 è un'immunodeficienza genetica rara causata da un'anomalia di una proteina della cascata del complemento. È caratterizzata da livelli di ficolina 3 bassi o non rilevabili nel siero, suscettibilità alle infezioni e possibile autoimmunità. Il quadro clinico è variabile e va dall'enterocolite necrotizzante perinatale con infezioni cutanee ricorrenti da Staphylococcus aureus alle infezioni polmonari ricorrenti ad esordio infantile che esitano negli ascessi cerebrali e nella fibrosi polmonare, fino alla nefropatia membranosa. In alcuni pazienti, le ripercussioni cliniche del deficit di ficolina 3 non sono chiare."},"nl":{"name":"Immuundeficiëntie door ficolin3-deficiëntie","definition":"Immuundeficiëntie door ficolin3-deficiëntie is een zeldzame, genetische, immuundeficiëntie door een anomalie van een eiwit van de complementcascade, en wordt gekarakteriseerd door lage of onwaarneembare gehaltes van ficolin3 in het serum, vatbaarheid voor infecties, en mogelijk auto-immuniteit. Het klinisch beeld varieert, gaande van perinatale necrotiserende enterocolitis en recurrente huidinfecties met <i>Staphylococcus aureus</i> tot recurrente longinfecties met aanvang in de kindertijd die leiden tot hersenabcessen en longfibrose, en tot membraneuze nefropathie. In geval van sommige patiënten waren de klinische gevolgen van ficolin3-deficiëntie niet duidelijk."},"pt":{"name":"Imunodeficiência por défice de ficolin3"},"pl":{"name":"Niedobór odporności z powodu deficytu fikoliny3"},"cs":{"name":"Imunodeficience způsobená ficolin3 deficitem"},"uk":{"name":"Імунодефіцит, зумовлений дефіцитом фіколіну3","definition":"Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with <i>Staphylococcus aureus</i> to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear."},"zh":{"name":"ficolin3基因缺乏所致免疫缺陷","definition":"ficolin3基因缺乏所致免疫缺陷是一种罕见的遗传性免疫缺陷，其特征是补体级联蛋白异常，其特征是血清ficolin3水平低或无法检测到，易受感染，可能还有自身免疫性疾病。其表现多种多样，从围产期坏死性小肠结肠炎和复发性皮肤感染的金黄色葡萄球菌到儿童期反复肺部感染导致脑脓肿和肺纤维化，再到膜性肾病都可见。在一些患者中，ficolin3缺乏症的临床预后尚不清楚。"},"tr":{"name":"Ficolin3 eksikliğine bağlı immün yetmezlik"}},"xrefs":[{"source":"OMIM","code":"613860","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":"201749924"},{"source":"MONDO","code":"0013467","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707940","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":"FCN3","name":"ficolin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19535802[PMID]","hgnc":"3625","ensembl":"ENSG00000142748","omim":"604973","loci":["1p36.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"19535802[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19535802[PMID]"}],"phenotypes":null}