{"orpha":397787,"name":"Combined immunodeficiency due to IKBKB deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID due to IKBKB deficiency","Combined immunodeficiency due to inhibitor of nuclear factor kappa B subunit beta deficiency"],"definition":"A rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397787/","orphanet_url":"https://www.orpha.net/en/disease/detail/397787","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en IKBKB","synonyms":["Déficit immunitaire combiné par déficit en protéine inhibitor of nuclear factor kappa B subunit beta","Immunodéficience combinée par déficit en IKBKB","CID par déficit en IKBKB","DIC par déficit en IKBKB"],"definition":"Forme rare et génétique de déficit immunitaire primaire caractérisée par des infections bactériennes, fongiques et virales mettant en jeu le pronostic vital, qui se manifestent dès la petite enfance, et par un retard de croissance staturo-pondérale. En général, une hypogammaglobulinémie ou une agammaglobulinémie et des taux normaux de lymphocytes T et B sont observés."},"de":{"name":"Immundefekt, kombinierter, durch IKK2-Mangel","synonyms":["CID durch IKK2-Defizienz","Kombinierter Immundefekt durch I-kappa-B-Kinase 2-Defizienz"]},"es":{"name":"Inmunodeficiencia combinada por deficiencia de IKK2","synonyms":["IDC por deficiencia de IKBKB","Inmunodeficiencia combinada por deficiencia del inhibidor de la subunidad beta del factor nuclear kappa B"],"definition":"La inmunodeficiencia combinada grave por deficiencia de IKK2 es una forma de inmunodeficiencia primaria, genética y poco frecuente, caracterizada por la presencia de infecciones bacterianas, fúngicas y víricas potencialmente mortales de inicio en la lactancia y fallo de medro. Típicamente, se presenta con hipogammaglobulinemia o agammaglobulinemia y niveles normales de células T y B."},"it":{"name":"Immunodeficienza combinata grave da deficit di IKK2","synonyms":["SCID da deficit di IKK2"],"definition":"L'immunodeficienza combinata grave da deficit di IKK2 è una forma genetica rara di immunodeficienza primitiva, che esordisce nella prima infanzia con infezioni batteriche, fungine e virali potenzialmente letali e ritardo della crescita. Di solito i pazienti presentano ipogammaglobulinemia o agammaglobulinemia e livelli normali dei linfociti T e B."},"nl":{"name":"Gecombineerde immuundeficiëntie door IKBKB-deficiëntie","synonyms":["CID door IKBKB-deficiëntie","Gecombineerde immuundeficiëntie door deficiëntie van inhibitor van nucleaire factor kappa B subeenheid bèta"],"definition":"Ernstige gecombineerde immuundeficiëntie door IKK2-deficiëntie is een zeldzame, genetische vorm van primaire immuundeficiëntie die gekarakteriseerd wordt door levensbedreigende bacteriële, fungale en virale infecties met aanvang in de zuigelingentijd, en groeiachterstand. Doorgaans zijn hypogammaglobulinemie of agammaglobulinemie en normale gehaltes van T- en B-cellen aanwezig."},"pt":{"name":"Imunodeficiência combinada devido à deficiência de IKBKB","synonyms":["CID devido a deficiência IKBKB","Imunodeficiência combinada devido à deficiência da subunidade beta do inibidor do fator nuclear kappa B"]},"pl":{"name":"Ciężki złożony Niedobór odporności z powodu deficytu IKK2","synonyms":["DICS z niedoborem IKK2","SCID z powodu niedoboru IKK2","Złożony niedobór odporności spowodowany niedoborem IKK2"],"definition":"*Ciężki złożony niedobór odporności z powodu deficytu IKK2 jest rzadką, genetycznie uwarunkowaną postacią pierwotnego niedoboru odporności; charakteryzuje się zagrażającymi życiu zakażeniami bakteryjnymi, grzybiczymi i wirusowymi, które pojawiają się w okresie niemowlęcym i brakiem prawidłowego rozwoju. Zazwyczaj obserwuje się hipogammaglobulinemię lub agammaglobulinemię oraz prawidłowe poziomy limfocytów T i B."},"cs":{"name":"Těžká kombinovaná imunodeficience způsobená deficitem IKK2","synonyms":["SCID způsobená deficitem IKK2"]},"uk":{"name":"Тяжкий комбінований імунодефіцит, зумовлений дефіцитом IKK2","synonyms":["ТКІД внаслідок дефіциту IKK2"],"definition":"A rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present."},"zh":{"name":"IKK2基因缺陷所致重症联合免疫缺陷","synonyms":["IKK2基因缺陷所致SCID"],"definition":"由IKK2缺乏所致严重联合免疫缺陷是一种罕见的遗传形式的原发性免疫缺陷，其特征是在婴儿时期就开始感染危及生命的细菌、真菌和病毒，且生长迟滞。本病的典型表现为低丙种球蛋白血症或无丙种球蛋白血症，而T细胞和B细胞水平正常。"},"tr":{"name":"IKK2 eksikliğine bağlı ağır kombine immün yetmezlik","synonyms":["IKK2 eksikliğine bağlı SCID"]}},"xrefs":[{"source":"OMIM","code":"615592","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014267","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190593","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":688571,"name":"Combined immunodeficiency with low immunoglobulins and normal B cells","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"IKBKB","name":"inhibitor of nuclear factor kappa B kinase subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24369075[PMID]","hgnc":"5960","ensembl":"ENSG00000104365","omim":"603258","loci":["8p11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"25139357[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25139357[PMID]"}],"phenotypes":null}