{"title":"DOCK11 deficiency-related immune dysregulation leading to paediatric acute liver failure.","authors":"Varun Kumar, Karunesh Kumar, Nameet Jerath, Anupam Sibal","doi":"10.1136/bcr-2024-263427","DOIUrl":null,"url":null,"abstract":"<p><p>Even after a thorough workup, aetiology remains indeterminate in a majority of paediatric acute liver failure cases. Whole exome sequencing (WES) by next-generation sequencing has helped in identifying aetiology in such cases. Autoinflammatory disorders and disorders of immune dysregulation are evolving causes of acute liver failure. Here, we present a case of a young child who presented with acute liver failure and was diagnosed to have DOCK11 deficiency on WES. The child improved with symptomatic treatment. DOCK11 deficiency is a multisystem autoinflammatory disease that may present as acute liver failure.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6000,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMJ Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1136/bcr-2024-263427","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
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Abstract
Even after a thorough workup, aetiology remains indeterminate in a majority of paediatric acute liver failure cases. Whole exome sequencing (WES) by next-generation sequencing has helped in identifying aetiology in such cases. Autoinflammatory disorders and disorders of immune dysregulation are evolving causes of acute liver failure. Here, we present a case of a young child who presented with acute liver failure and was diagnosed to have DOCK11 deficiency on WES. The child improved with symptomatic treatment. DOCK11 deficiency is a multisystem autoinflammatory disease that may present as acute liver failure.
期刊介绍：
BMJ Case Reports is an important educational resource offering a high volume of cases in all disciplines so that healthcare professionals, researchers and others can easily find clinically important information on common and rare conditions. All articles are peer reviewed and copy edited before publication. BMJ Case Reports is not an edition or supplement of the BMJ.
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