{"orpha":70592,"name":"Transient predisposition to invasive pyogenic bacterial infection","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-70592/","orphanet_url":"https://www.orpha.net/en/disease/detail/70592","names":{"fr":{"name":"Prédisposition transitoire à une infection bactérienne pyogène invasive","definition":"L'immunodéficience par déficit en IRAK-4 (interleukin-1 receptor-associated kinase-4) est une immunodéficience associée à une susceptibilité accrue aux infections invasives causées par les bactéries pyogènes."},"de":{"name":"Transiente Prädisposition für eine invasive bakterielle Eiterinfektion","synonyms":["IRAK4-Mangel"],"definition":"Der Mangel der Interleukin-1-Rezeptor-assoziierten Kinase-4 (IRAK-4) äußert sich als Immundefizienz mit erhöhter Anfälligkeit für invasive Infektionen mit pyogenen Bakterien."},"es":{"name":"Predisposición transitoria a la infección bacteriana piógena invasiva","definition":"La deficiencia de quinasa 4 asociada al receptor de la interleucina 1 (IRAK-4) es una inmunodeficiencia ligada a una mayor susceptibilidad a las infecciones invasivas causadas por bacterias piógenas."},"it":{"name":"Predisposizione transitoria alle infezioni batteriche piogeniche invasive"},"nl":{"name":"Tijdelijke predispositie voor invasieve pyogene bacteriële infectie","synonyms":["IRAK4-deficiëntie","Immuundeficiëntie door IRAK4-deficiëntie","Immuundeficiëntie door MYD88-deficiëntie","Immuundeficiëntie door deficiëntie van MYD88 'innate immune signal transduction adaptor'","Immuundeficiëntie door deficiëntie van interleukine 1-receptorgeassocieerd kinase 4","MYD88-deficiëntie"],"definition":"Deficiëntie van interleukine-1-receptor-geassocieerd kinase-4 (IRAK-4) is een immuundeficiëntie, geassocieerd met verhoogde vatbaarheid voor invasieve infecties door pyogene bacteriën."},"pt":{"name":"Imunodeficiência por deficiência de cinase 4 associada ao recetor da interleucina-1","synonyms":["Deficiência de IRAK4"]},"pl":{"name":"Przejściowa predyspozycja do inwazyjnych ropnych zakażeń bakteryjnych","synonyms":["Niedobór IRAK4","Niedobór odporności spowodowany deficytem kinazy-4 związanej z receptorem interleukiny-1"]},"cs":{"name":"Imunodeficience způsobená deficitem kinázy 4 asociované s receptory interleukinu-1","synonyms":["Deficit IRAK4"]},"uk":{"name":"Імунодефіцит, зумовлений дефіцитом інтерлейкін-1 рецептор-асоційованої кінази-4","synonyms":["Дефіцит IRAK4"],"definition":"Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria."},"zh":{"name":"白介素1受体相关激酶4缺乏所致免疫缺陷","synonyms":["IRAK4缺乏症"]},"tr":{"name":"İnterlökin-1 reseptör ilişkili kinaz-4 eksikliğine bağlı immün yetmezlik","synonyms":["IRAK4 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"607676","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"612260","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"375334522"},{"source":"MONDO","code":"0011888","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564352","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843256","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10311","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":183713,"name":"OBSOLETE: Bacterial susceptibility due to TLR signaling pathway deficiency","status":"inactive"}],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183710,"name":"Genetic susceptibility to infections due to particular pathogens","classifications":[156,195]}],"children":[],"genes":[{"symbol":"IRAK4","name":"interleukin 1 receptor associated kinase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"17967","ensembl":"ENSG00000198001","omim":"606883","loci":["12q12"]},{"symbol":"MYD88","name":"MYD88 innate immune signal transduction adaptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31301515[PMID]","hgnc":"7562","ensembl":"ENSG00000172936","omim":"602170","loci":["3p22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":49.0,"area":"Worldwide","status":"Validated","source":"21734245[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21734245[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007499","label":"Recurrent staphylococcal infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005366","label":"Recurrent streptococcus pneumoniae infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005406","label":"Recurrent bacterial skin infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null}]}}