{"orpha":697403,"name":"Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency","Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IkappaB kinase alpha deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-697403/","orphanet_url":"https://www.orpha.net/en/disease/detail/697403","names":{"fr":{"name":"Syndrome de déficit immunitaire combiné-hypogammaglobulinémie-anomalies squelettiques par déficit en IKBKA","synonyms":["Syndrome d'immunodéficience combinée-hypogammaglobulinémie-anomalies squelettiques par déficit en IKBKA","Syndrome de CID-hypogammaglobulinémie-anomalies squelettiques par déficit en IKBKA","Syndrome de DIC-hypogammaglobulinémie-anomalies squelettiques par déficit en IKBKA","Syndrome de déficit immunitaire combiné-hypogammaglobulinémie-anomalies squelettiques par déficit en protéine IkappaB kinase alpha"]},"de":{"name":"Kombinierter Immundefekt mit Hypogammaglobulinämie und Skelettanomalien durch IKBKA-Mangel","synonyms":["CID mit Hypogammaglobulinämie und Skelettanomalien durch IKBKA-Defizienz","IKKA-Defekt"]},"es":{"name":"Síndrome de inmunodeficiencia combinada-hipogammaglobulinemia-anomalías esqueléticas por deficiencia de IKBKA","synonyms":["Síndrome de IDC-hipogammaglobulinemia-anomalías esqueléticas por deficiencia de IKBKA","Síndrome de inmunodeficiencia combinada-hipogammaglobulinemia-anomalías esqueléticas por deficiencia de la cinasa IkappaB-alfa"]},"it":{"name":"Sindrome immunodeficienza combinata-ipogammaglobulinemia-anomalie scheletriche da deficit di IKBKA","synonyms":["CID-ipogammaglobulinemia-anomalie scheletriche da deficit di IKBKA","Sindrome immunodeficienza combinata-ipogammaglobulinemia-anomalie scheletriche da deficit di IkappaB chinasi alfa"]},"nl":{"name":"Gecombineerde immuundeficiëntie - hypogammaglobulinemie - skeletanomalieën-syndroom door IKBKA-deficiëntie","synonyms":["CID - hypogammaglobulinemie - skeletanomalieën-syndroom door IKBKA-deficiëntie","Gecombineerde immuundeficiëntie - hypogammaglobulinemie - skeletanomalieën-syndroom door deficiëntie van IkappaB kinase alfa"]},"pt":{"name":"Combined immunodeficiency due to IKBKA deficiency"},"pl":{"name":"Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency","synonyms":["CID-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency","Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IkappaB kinase alpha deficiency"]},"cs":{"name":"Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency","synonyms":["CID-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency","Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IkappaB kinase alpha deficiency"]}},"xrefs":[{"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":688571,"name":"Combined immunodeficiency with low immunoglobulins and normal B cells","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"CHUK","name":"component of inhibitor of nuclear factor kappa B kinase complex","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34533979[PMID]_39812688[PMID]","hgnc":"1974","ensembl":"ENSG00000213341","omim":"600664","loci":["10q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}