{"orpha":700205,"name":"Combined immunodeficiency due to IKBKB gain-of-function mutation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID due to IKBKB GOF mutation","Combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta gain-of-function mutation"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-700205/","orphanet_url":"https://www.orpha.net/en/disease/detail/700205","names":{"fr":{"name":"Déficit immunitaire combiné associé à une mutation gain de fonction d'IKBKB","synonyms":["CID associée à une mutation gain de fonction d'IKBKB","DIC associé à une mutation gain de fonction d'IKBKB","Déficit immunitaire combiné associé à une mutation gain de fonction de la protéine inhibitor of nuclear factor kappa B kinase subunit beta","Immunodéficience combinée associée à une mutation gain de fonction d'IKBKB"]},"de":{"name":"Immundefekt, kombinierter, durch gain-of-function-Mutation im IKBKB-Gen","synonyms":["CID durch IKBKB-GOF-Mutation","Kombinerter Immundefekt durch GOF-Mutation im IKBKB-Gen"]},"es":{"name":"Inmunodeficiencia combinada por mutación de ganancia de función de IKBKB","synonyms":["IDC por mutación GOF de IKBKB","Inmunodeficiencia combinada por mutación de ganancia de función del inhibidor de la subunidad beta de la cinasa del factor nuclear kappa B"]},"it":{"name":"Immunodeficienza combinata da mutazione con guadagno di funzione di IKBKB","synonyms":["CID da mutazione GOF di IKBKB","Immunodeficienza combinata da mutazione con guadagno di funzione della subunità beta dell'inibitore della chinasi del fattore nucleare kappa B"]},"nl":{"name":"Gecombineerde immuundeficiëntie door winstmutatie van IKBKB","synonyms":["CID door IKBKB-winstmutatie","Gecombineerde immuundeficiëntie door winstmutatie van inhibitor van nucleaire factor kappa B kinase subeenheid bèta"]},"pt":{"name":"Combined immunodeficiency due to IKBKB gain-of-function mutation"},"pl":{"name":"Combined immunodeficiency due to IKBKB gain-of-function mutation","synonyms":["CID due to IKBKB GOF mutation","Combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta gain-of-function mutation"]},"cs":{"name":"Combined immunodeficiency due to IKBKB gain-of-function mutation","synonyms":["CID due to IKBKB GOF mutation","Combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta gain-of-function mutation"]}},"xrefs":[{"source":"OMIM","code":"618204","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}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":695164,"name":"Combined immunodeficiency with low B cells and hypogammaglobulinemia","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) (gain of function) in","status":"Assessed","source":"30337470[PMID]","hgnc":"5960","ensembl":"ENSG00000104365","omim":"603258","loci":["8p11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"30337470[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30337470[PMID]_ORPHANET"}],"phenotypes":null}