{"orpha":217390,"name":"Combined immunodeficiency due to DOCK8 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID due to DOCK8 deficiency","Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency","DOCK8 immunodeficiency syndrome"],"definition":"Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217390/","orphanet_url":"https://www.orpha.net/en/disease/detail/217390","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en DOCK8","synonyms":["CID par déficit en DOCK8","DIC par déficit en DOCK8","Déficit immunitaire combiné par déficit en dedicator of cytokinesis 8"],"definition":"Le déficit immunitaire combiné par déficit en DOCK8 une forme de déficit immunitaire des cellules T et B caractérisé par des infections cutanées virales récurrentes, une susceptibilité aux cancers et des taux élevés d'IgE sériques."},"de":{"name":"Immundefekt, kombinierter schwerer, durch DOCK8-Mangel","synonyms":["Immundefekt, kombinierter schwerer, durch DOCK8-Defekt","SCID durch DOCK8-Mangel"],"definition":"Der Kombinierte Immundefekt durch Mangel des dedicator of cytokinesis 8-Proteins (DOCK8) ist eine Form von T- und B-Zell-Immundefekt und gekennzeichnet durch rezidivierende virale Hautinfektionen, Krebsneigung und erhöhte Immunglobulin E (IgE)-Serumspiegel."},"es":{"name":"Inmunodeficiencia combinada por deficiencia de DOCK8","synonyms":["CID por deficiencia de DOCK8","Inmunodeficiencia combinada por deficiencia de dedicador de la proteina citocinesis 8","Síndrome de inmunodeficiencia DOCK8"],"definition":"La inmunodeficiencia combinada (CID) por déficit de DOCK8 (''dedicator of cytokinesis 8 protein'') es una forma de inmunodeficiencia de linfocitos T y B caracterizada por infecciones virales cutáneas recurrentes, susceptibilidad a tumores y niveles elevados de inmunoglobulina E (IgE) en suero."},"it":{"name":"Immunodeficienza combinata da deficit di DOCK8","synonyms":["CID da deficit di DOCK8","Immunodeficienza combinata da deficit del dedicatore della proteina di citochinesi 8","Sindrome da immunodeficienza DOCK8"],"definition":"L'immunodeficienza combinata da deficit di DOCK8 (dedicator of cytokinesis 8 protein) è una forma di immunodeficienza dei lifociti T e B, caratterizzata da infezioni virali cutanee ricorrenti, suscettibilità ai tumori e aumento dei livelli sierici delle immunoglobuline E (IgE)."},"nl":{"name":"Gecombineerde immuundeficiëntie als gevolg van DOCK8-deficiëntie","synonyms":["CID als gevolg van DOCK8-deficiëntie","DOCK8 immuundeficiëntiesyndroom","Gecombineerde immuundeficiëntie als gevolg van dedicator of cytokinese 8-proteïnedeficiëntie"],"definition":"Gecombineerde immuundeficiëntie als gevolg van 'dedicator of cytokinesis 8'-eiwitdeficiëntie (DOCK8) is een vorm van T- en B-celimmunodeficiëntie gekenmerkt door terugkerende virale huidinfecties, gevoeligheid voor kanker en verhoogde serumniveaus van immunoglobuline E (IgE)."},"pt":{"name":"Imunodeficiência combinada por deficiência de DOCK8"},"pl":{"name":"Złożony Niedobór odporności z powodu deficytu DOCK8","synonyms":["CID z powodu niedoboru DOCK8","Zespół niedoboru odporności DOCK8"]},"cs":{"name":"Kombinovaná imunodeficience způsobená deficitem DOCK8","synonyms":["Syndrom DOCK8 imunodeficience","CID způsobená deficitem DOCK8","Kombinovaná imunodeficience způsobená deficitem donoru proteinu cytokineze 8"]},"uk":{"name":"Комбінований імунодефіцит, зумовлений дефіцитом DOCK8","synonyms":["CID через дефіцит DOCK8","Комбінований імунодефіцит, зумовлений дефіцитом білка десикатора цитокінезу 8","Синдром імунодефіциту DOCK8"],"definition":"Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)."},"zh":{"name":"DOCK8基因缺陷所致联合免疫缺陷","synonyms":["胞质分裂作用蛋白8缺陷所致联合免疫缺陷"],"definition":"胞质分裂蛋白8（DOCK8）缺乏所致联合免疫缺陷是一种T细胞和B细胞免疫缺陷，其特征是反复发生皮肤病毒感染，易患癌症和血清免疫球蛋白E（IgE）水平升高。"},"tr":{"name":"DOCK8 eksikliğine bağlı kombine immün yetmezlik","synonyms":["DOCK8 eksikliğine bağlı CID","DOCK8 immün yetmezlik sendromu","Sitokinez 8 protein eksikliğinin belirleyicisine bağlı kombine immün yetmezlik"]}},"xrefs":[{"source":"OMIM","code":"243700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"136043326"},{"source":"MONDO","code":"0009478","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679816","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2816","qualifier":"E","icd_relation":null,"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]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"DOCK8","name":"dedicator of cytokinesis 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"19191","ensembl":"ENSG00000107099","omim":"611432","loci":["9p24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"19776401[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19776401[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002099","label":"Asthma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001047","label":"Atopic dermatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010976","label":"Decreased total B cell count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005403","label":"Decreased total T cell count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012203","label":"Onychomycosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005406","label":"Recurrent bacterial skin infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005401","label":"Recurrent candida infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011108","label":"Recurrent sinusitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004429","label":"Recurrent viral infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200043","label":"Verrucae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006763","label":"Anal canal squamous carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030417","label":"Squamous cell carcinoma of the vulva","frequency":"Occasional (29-5%)","criteria":null}]}}