{"orpha":314689,"name":"Combined immunodeficiency due to STK4 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID due to STK4 deficiency"],"definition":"A rare, genetic, combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314689/","orphanet_url":"https://www.orpha.net/en/disease/detail/314689","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en STK4","synonyms":["DIC par déficit en STK4"],"definition":"Déficit immunitaire combiné T et B rare, d'origine génétique, caractérisé par une lymphopénie des lymphocytes T et B, une hypergammaglobulinémie et une neutropénie intermittente. Il se manifeste par des infections virales, bactériennes et fongiques opportunistes récurrentes touchant la peau (papillomatose cutanée, molluscum contagiosum, abcès cutanés, candidose cutanéomuqueuse), les voies respiratoires supérieures et inférieures ou la septicémie. Les autres caractéristiques cliniques sont des maladies auto-immunes (anémie hémolytique auto-immune) et des malformations cardiaques congénitales (communication interauriculaire, foramen ovale, insuffisance mitrale, tricuspidienne et pulmonaire)."},"de":{"name":"Immundefekt, kombinierter, durch STK4-Mangel","synonyms":["CID durch STK4-Mangel"]},"es":{"name":"Inmunodeficiencia combinada por deficiencia de STK4","synonyms":["CID por deficiencia de STK4"],"definition":"Es una inmunodeficiencia combinada de células T y B poco frecuente, caracterizada por linfopenia de células T y B, hipergammaglobulinemia y neutropenia intermitente. Presenta infecciones víricas, bacterianas y fúngicas, oportunistas y recurrentes, que afectan a la piel (papilomatosis cutánea, molusco contagioso, abscesos cutáneos, candidiasis mucocutánea) y los tractos respiratorios superior e inferior, pudiendo dar lugar a septicemia. Otras características clínicas incluyen manifestaciones autoinmunes (anemia hemolítica autoinmune) y defectos cardíacos congénitos (comunicación interauricular, foramen oval permeable, insuficiencia de la válvula mitral, tricúspide y pulmonar)."},"it":{"name":"Immunodeficienza combinata da deficit di STK4","synonyms":["CID da deficit di STK4"],"definition":"L'immunodeficienza combinata da deficit di STK4 è un'immunodeficienza rara combinata delle cellule T e B, di origine genetica, caratterizzata da linfopenia delle cellule T e B, ipergammaglobulinemia e neutropenia intermittente. Esordisce con infezioni virali, batteriche e fungine opportunistiche ricorrenti che interessano la cute (papillomatosi cutanea, mollusco contagioso, ascessi cutanei, candidiasi muco-cutanea) e le vie aeree superiori e inferiori, o con la setticemia. Può associarsi ai segni clinici caratteristici di alcune malattie autoimmuni (anemia emolitica autoimmune) e alle cardiopatie congenite (difetti del setto interatriale, forame ovale pervio, insufficienza della valvola mitrale, tricuspide e polmonare)."},"nl":{"name":"Gecombineerde immuundeficiëntie door STK4-deficiëntie","synonyms":["CID door STK4-deficiëntie"],"definition":"Een zeldzame, genetische, gecombineerde T- en B-cel-immuundeficiëntie, gekarakteriseerd door T- en B-cellymfopenie, hypergammaglobulinemie en intermitterende neutropenie. Het presenteert zich met terugkerende opportunistische virale, bacteriële en fungale infecties van huid (cutane papillomatose, molluscum contagiosum, huidabcessen, mucocutane candidiasis) of van bovenste en onderste luchtwegen, of met septicemie. Andere klinische kenmerken zijn onder meer auto-immune manifestaties (auto-immune hemolytische anemie) en congenitale hartdefecten (atriumseptumdefecten, persisterend foramen ovale, mitralis-, tricuspidalis- en pulmonalisklepinsufficiëntie)."},"pt":{"name":"Imunodeficiência combinada devido à deficiência de STK4","synonyms":["CID devido à deficiência de STK4"]},"pl":{"name":"Złożony Niedobór odporności z powodu deficytu STK4","synonyms":["CID z powodu niedoboru STK4"]},"cs":{"name":"Kombinovaná imunodeficience způsobená deficitem STK4","synonyms":["CID způsobená deficitem STK4"]},"uk":{"name":"Комбінований імунодефіцит, зумовлений дефіцитом STK4","synonyms":["КІД через дефіцит STK4"],"definition":"A rare, genetic, combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency)."},"zh":{"name":"STK4基因缺陷所致联合免疫缺陷","synonyms":["STK4基因缺陷所致CID"],"definition":"一种罕见的遗传性T细胞和B细胞联合免疫缺陷，以T和B淋巴细胞减少、高丙种球蛋白血症和间歇性中性粒细胞减少为特征。它表现为反复的机会性病毒、细菌和真菌感染，涉及皮肤（皮肤乳头状瘤、传染性软疣、皮肤脓肿、皮肤粘膜念珠菌病）、上下呼吸道或败血症。其他临床特征包括自身免疫表现（自身免疫性溶血性贫血）和先天性心脏缺陷（房间隔缺损，卵圆孔未闭，二尖瓣、三尖瓣和肺动脉瓣关闭不全）。"},"tr":{"name":"STK4 eksikliğine bağlı kombine immün yetmezlik","synonyms":["STK4 eksikliğine bağlı CID"]}},"xrefs":[{"source":"OMIM","code":"614868","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},{"source":"MONDO","code":"0013934","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749922","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":718053,"name":"Combined immunodeficiency with low CD4 and normal CD8","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"STK4","name":"serine/threonine kinase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22294732[PMID]_22174160[PMID]","hgnc":"11408","ensembl":"ENSG00000101109","omim":"604965","loci":["20q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"22294732[PMID]_22174160[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}