{"orpha":329173,"name":"Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329173/","orphanet_url":"https://www.orpha.net/en/disease/detail/329173","names":{"fr":{"name":"Syndrome auto-inflammatoire avec infection bactérienne pyogénique et amylopectinose","definition":"Syndrome mixte auto-inflammatoire et auto-immun rare d'origine génétique caractérisé par une inflammation systémique chronique (se manifestant par une fièvre récurrente en période néonatale ou infantile) et un déficit immunitaire combiné (se manifestant par des infections invasives et récurrentes d'origine virale et bactérienne). L'amylopectinose musculaire peut être subclinique ou se compliquer d'une myopathie/cardiomyopathie."},"de":{"name":"Autoinflammatorisches Syndrom mit pyogener Bakterieninfektion und Amylopektinose","synonyms":["HOIL1-Mangel"],"definition":"Ein genetisch bedingter Immundefekt, der durch das gemischte Auftreten einer chronisch systemischen Autoinflammation (mit wiederkehrendem Fieber in der Neugeborenen- oder Säuglingszeit) mit einer kombinierter Immundefizienz (die sich in wiederkehrenden viralen und invasiven bakteriellen Infektionen äußert) gekennzeichnet ist. Die muskuläre Amylopektinose kann subklinisch sein oder durch Myopathie/Kardiomyopathie kompliziert werden."},"es":{"name":"Síndrome autoinflamatorio con infección bacteriana piogénica y amilopectinosis","synonyms":["Deficiencia de HOIL1"],"definition":"Es un síndrome mixto autoinflamatorio y autoinmune, de origen genético y poco frecuente, caracterizado por autoinflamación sistémica crónica (que se presenta con fiebre recurrente en el período neonatal o de lactancia) e inmunodeficiencia combinada (que se manifiesta con infecciones bacterianas invasivas y virales recurrentes). La amilopectinosis muscular puede ser subclínica o complicarse por una miopatía/miocardiopatía."},"it":{"name":"Sindrome autoinfiammatoria con infezione da batteri piogeni e amilopectinosi","synonyms":["Deficit di HOIL1"],"definition":"Si tratta di una sindrome genetica rara autoinfiammatoria e autoimmune, caratterizzata da autoinfiammazione sistemica cronica (che esordisce con febbre ricorrente nel periodo neonatale o nell'infanzia) e immunodeficienza combinata (che si manifesta con infezioni virali ricorrenti e batteriche invasive). L'amilopectinosi muscolare può essere subclinica o associarsi a complicanze come la miopatia e la cardiomiopatia."},"nl":{"name":"Auto-inflammatoir syndroom met pyogene bacteriële infectie en amylopectinose","definition":"Een zeldzaam, genetisch, gemengd auto-inflammatoir en auto-immuun syndroom, gekarakteriseerd door chronische systemische auto-inflammatie (die zich presenteert als terugkerende koorts in de neonatale of infantiele periode) en gecombineerde immuundeficiëntie (die zich manifesteert als terugkerende virale en invasieve bacteriële infecties). Musculaire amylopectinose kan subklinisch zijn of gecompliceerd worden door myopathie/cardiomyopathie."},"pt":{"name":"Síndrome autoinflamatório com infeções bacterianas piogénicas e amilopectinose"},"pl":{"name":"Zespół autozapalenie z ropnym zakażeniem bakteryjnym i amylopektynozą"},"cs":{"name":"Autoinflamatorní syndrom s pyogenní bakteriální infekcí a amylopektinózou","synonyms":["HOIL1 deficit"]},"uk":{"name":"Аутозапальний синдром з піогенною бактеріальною інфекцією та амілопектинозом","definition":"A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy."},"zh":{"name":"自身炎症综合征伴化脓性细菌感染和支链淀粉病","definition":"一种罕见的遗传性混合性自身炎症和自身免疫综合征，特征为慢性全身性自身炎症（表现为新生儿或婴儿期反复发热）和联合免疫缺陷（表现为反复病毒感染和侵袭性细菌感染）。肌支链淀粉病可能呈亚临床表现，也可能并发肌病/心肌病。"},"tr":{"name":"Piyojenik bakteriyel enfeksiyon ve amilopektinoz ile seyreden otoinflamatuar sendrom"}},"xrefs":[{"source":"OMIM","code":"615895","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620632","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.21","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017992","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5394674","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":324933,"name":"Mixed autoinflammatory and autoimmune syndrome","classifications":[156,196,231]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"RBCK1","name":"RANBP2-type and C3HC4-type zinc finger containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23104095[PMID]","hgnc":"15864","ensembl":"ENSG00000125826","omim":"610924","loci":["20p13"]},{"symbol":"RNF31","name":"ring finger protein 31","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26008899[PMID]","hgnc":"16031","ensembl":"ENSG00000092098","omim":"612487","loci":["14q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"30936877[PMID]_23104095[PMID]_26008899[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30936877[PMID]"}],"phenotypes":null}