{"orpha":331187,"name":"Immunodeficiency due to MASP-2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-331187/","orphanet_url":"https://www.orpha.net/en/disease/detail/331187","names":{"fr":{"name":"Déficit immunitaire par déficit en MASP-2","synonyms":["Immunodéficience par déficit en MASP-2"],"definition":"Une immunodéficience génétique rare causée par une anomalie de la cascade protéique du complément. Elle se caractérise par des taux bas de MASP-2 sérique, une susceptibilité variable aux infections (ex. tuberculose pulmonaire, pneumonie au pneumocoque, abcès cutanés et sepsis) et par des maladies auto-immunes (comme la pneumopathie inflammatoire, la mucoviscidose, le lupus érythémateux disséminé). La maladie reste asymptomatique dans de nombreux cas."},"de":{"name":"Immundefekt durch MASP-2-Mangel"},"es":{"name":"Inmunodeficiencia por deficiencia de MASP-2","definition":"La inmunodeficiencia por deficiencia de MASP-2, es una inmunodeficiencia genética poco frecuente debida a anomalías de la cascada proteica del complemento, caracterizada por niveles séricos de MASP-2 bajos, susceptibilidad variable a infecciones bacterianas (p. ej., tuberculosis pulmonar, neumonía neumocócica, abscesos cutáneos y sepsis) y enfermedades autoinmunes (p. ej. enfermedad pulmonar inflamatoria, fibrosis quística, lupus eritematoso sistémico). En muchos casos permanece asintomática."},"it":{"name":"Immunodeficieza da deficit di MASP-2","definition":"L'immunodeficienza da deficit di MASP-2 è un'immunodeficienza genetica rara causata da un'anomalia di una proteina della cascata del complemento. È caratterizzata da bassi livelli di MASP-2 nel siero, suscettibilità variabile alle infezioni batteriche (ad esempio tubercolosi polmonare, polmonite pneumococcica, ascessi cutanei e sepsi) e malattie autoimmuni (pneumopatia infiammatoria, fibrosi cistica, lupus eritematoso sistemico). Molti pazienti rimangono asintomatici."},"nl":{"name":"Immuundeficiëntie door MASP-2-deficiëntie","definition":"Immuundeficiëntie door MASP-2-deficiëntie is een zeldzame, genetische immuundeficiëntie door een anomalie van een proteïne van de complementcascade, en wordt gekarakteriseerd door lage gehaltes van MASP-2 in het serum en een variabele susceptibiliteit voor bacteriële infectie (e.g. pulmonale tuberculose, pneumokokkenpneumonie, huidabcessen en sepsis), en auto-immuunziekten (e.g. inflammatoire longziekte, cystische fibrose, systemische lupus erythematosus). In vele gevallen blijft het asymptomatisch."},"pt":{"name":"Imunodeficiência por défice de MASP-2"},"pl":{"name":"Niedobór odporności z powodu deficytu MASP-2"},"cs":{"name":"Imunodeficience způsobená deficitem MASP-2"},"uk":{"name":"Імунодефіцит, зумовлений дефіцитом MASP-2","definition":"Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic."},"zh":{"name":"MASP-2基因缺乏所致免疫缺陷","definition":"MASP-2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，其特征是血清中MASP-2水平较低，易患细菌感染（如肺结核、肺炎球菌肺炎、皮肤脓肿和败血症）和自身免疫性疾病（如炎症性肺，囊性纤维化，系统性红斑狼疮）。通常没有症状。"},"tr":{"name":"MASP-2 eksikliğine bağlı immün yetmezlik"}},"xrefs":[{"source":"OMIM","code":"613791","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":"644800909"},{"source":"MONDO","code":"0013423","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749651","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]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"MASP2","name":"MBL associated serine protease 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12904520[PMID]","hgnc":"6902","ensembl":"ENSG00000009724","omim":"605102","loci":["1p36.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"12904520[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12904520[PMID]"}],"phenotypes":null}