{"orpha":726452,"name":"Combined immunodeficiency with early gray hairing","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Primary antibody deficiency/CID due to IRF4 neomorphic mutation","CID with early gray hairing"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-726452/","orphanet_url":"https://www.orpha.net/en/disease/detail/726452","names":{"fr":{"name":"Déficit immunitaire combiné avec blanchiment précoce des cheveux","synonyms":["CID avec blanchiment précoce des cheveux","DIC avec blanchiment précoce des cheveux","Immunodéficience combinée avec blanchiment précoce des cheveux","Déficit immunitaire combiné/déficit de production d'anticorps dû à une mutation néomorphique d'IRF4"]},"de":{"name":"Kombinierter Immundefekt mit frühzeitigem Ergrauen der Haare","synonyms":["Primärer Antikörpermangel/Kombinierter Immundefekt durch neomorphe IRF4-Mutation"]},"es":{"name":"Inmunodeficiencia combinada con canicie prematura","synonyms":["CID con canicie prematura","IDC con canicie prematura","Deficiencia primaria de anticuerpos/IDC por una mutación neomórfica del gen IRF4"]},"it":{"name":"Immunodeficienza combinata con incanutimento precoce","synonyms":["CID con incanutimento precoce","Deficit primitivo di anticorpi/CID da mutazione neomorfa di IRF4"]},"nl":{"name":"Gecombineerde immuundeficiëntie met premature vergrijzing van haar","synonyms":["CID met premature vergrijzing van haar"]},"pt":{"name":"Combined immunodeficiency with early gray hairing"},"pl":{"name":"Combined immunodeficiency with early gray hairing","synonyms":["Primary antibody deficiency/CID due to IRF4 neomorphic mutation","CID with early gray hairing"]},"cs":{"name":"Combined immunodeficiency with early gray hairing","synonyms":["Primary antibody deficiency/CID due to IRF4 neomorphic mutation","CID with early gray hairing"]}},"xrefs":[{"source":"OMIM","code":"621097","qualifier":"NTBT","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]},{"orpha":183469,"name":"Genetic hypopigmentation of the skin","classifications":[156]},{"orpha":79376,"name":"Hypopigmentation of the skin","classifications":[187]}],"children":[],"genes":[{"symbol":"IRF4","name":"interferon regulatory factor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36917008[PMID]","hgnc":"6119","ensembl":"ENSG00000137265","omim":"601900","loci":["6p25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"36917008[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"36917008[PMID]_ORPHANET"}],"phenotypes":null}