{"orpha":688594,"name":"Combined immunodeficiency due to RELB deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID due to RELB deficiency","Combined immunodeficiency due to RELB proto-oncogene NF-kB subunit deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-688594/","orphanet_url":"https://www.orpha.net/en/disease/detail/688594","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en RELB","synonyms":["CID par déficit en RELB","DIC par déficit en RELB","Déficit immunitaire combiné par déficit en protéine RELB proto-oncogene NF-kB subunit","Immunodéficience combinée par déficit en RELB"]},"de":{"name":"Immundefekt, kombinierter, durch RELB-Defizienz","synonyms":["Kombinierter Immundefekt aufgrund eines Mangels an der NF-kB-Untereinheit des RELB-Protoonkogens","RelB-Defekt"]},"es":{"name":"Inmunodeficiencia combinada por deficiencia de RELB","synonyms":["IDC por deficiencia de RELB","Inmunodeficiencia combinada por deficiencia de la subunidad NF-kB del protooncogén RELB"]},"it":{"name":"Immunodeficienza combinata da deficit di RELB"},"nl":{"name":"Gecombineerde immuundeficiëntie door RELB-deficiëntie","synonyms":["CID door RELB-deficiëntie","Gecombineerde immuundeficiëntie door deficiëntie van RELB proto-oncogen NF-kB-subeenheid"]},"pt":{"name":"Imunodeficiência combinada devido a deficiência RELB","synonyms":["CID devido a deficiência RELB","Imunodeficiência combinada devido a deficiência da subunidade NK-kB do proto-oncogene RELB"]},"pl":{"name":"Skojarzony niedobór odporności spowodowany niedoborem RELB","synonyms":["CID due to RELB deficiency","Combined immunodeficiency due to RELB proto-oncogene NF-kB subunit deficiency"]},"cs":{"name":"Kombinovaná imunodeficience způsobená nedostatkem RELB","synonyms":["CID due to RELB deficiency","Combined immunodeficiency due to RELB proto-oncogene NF-kB subunit deficiency"]}},"xrefs":[{"source":"OMIM","code":"617585","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"54696","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":688563,"name":"Combined immunodeficiency with normal Ig and poor specific antibody response","classifications":[156,195,233]},{"orpha":169355,"name":"Immunodeficiency syndrome with autoimmunity","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"RELB","name":"RELB proto-oncogene, NF-kB subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"39231201[PMID]","hgnc":"9956","ensembl":"ENSG00000104856","omim":"604758","loci":["19q13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"39231201[PMID]_26385063[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"39231201[PMID]_26385063[PMID]_ORPHANET"}],"phenotypes":null}