Rapid whole‐genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease

Pediatric Blood & CancerVolume 70, Issue 9 e30394 LETTER TO THE EDITOR Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease Arthavan Selvanathan, Corresponding Author Arthavan Selvanathan [email protected] orcid.org/0000-0003-3073-2555 Genetic Metabolic Disorders Service, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia Correspondence Arthavan Selvanathan, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia. Email: [email protected]Search for more papers by this authorC. Forwood, C. Forwood Centre for Clinical Genetics, Sydney Children's Hospital, Sydney Children's Hospitals Network, Westmead, New South Wales, AustraliaSearch for more papers by this authorJ. Russell, J. Russell Genetic Metabolic Disorders Service, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia Centre for Clinical Genetics, Sydney Children's Hospital, Sydney Children's Hospitals Network, Westmead, New South Wales, AustraliaSearch for more papers by this authorK. Batten, K. Batten Department of Nutrition and Dietetics, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia Faculty of Medicine & Health, University of New South Wales, Sydney, New South Wales, AustraliaSearch for more papers by this authorS. Thompson, S. Thompson Department of Nutrition and Dietetics, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia Disciplines of Genetic Medicine and Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this authorE. E. Palmer, E. E. Palmer Centre for Clinical Genetics, Sydney Children's Hospital, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia Faculty of Medicine & Health, University of New South Wales, Sydney, New South Wales, AustraliaSearch for more papers by this authorR. Macintosh, R. Macintosh Centre for Clinical Genetics, Sydney Children's Hospital, Sydney Children's Hospitals Network, Westmead, New South Wales, AustraliaSearch for more papers by this authorS. Nightingale, S. Nightingale Department of Gastroenterology, John Hunter Children's Hospital, Newcastle, New South Wales, Australia School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, AustraliaSearch for more papers by this authorR. Mitchell, R. Mitchell Faculty of Medicine & Health, University of New South Wales, Sydney, New South Wales, Australia Kids Cancer Centre, Sydney Children's Hospital, Sydney Children's Hospitals Network, Westmead, New South Wales, AustraliaSearch for more papers by this authorF. Alvaro, F. Alvaro School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, Australia Children's Cancer and Haematology Service, John Hunter Children's Hospital, Newcastle, New South Wales, AustraliaSearch for more papers by this authorT. Dudding-Byth, T. Dudding-Byth School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, Australia NSW Genetics of Learning Disability (GOLD) Service, Hunter New England Health, Waratah, New South Wales, AustraliaSearch for more papers by this authorS. Lunke, S. Lunke Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, University of Melbourne, Melbourne, Victoria, AustraliaSearch for more papers by this authorJ. Christodoulou, J. Christodoulou Disciplines of Genetic Medicine and Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, Australia Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, University of Melbourne, Melbourne, Victoria, AustraliaSearch for more papers by this authorZ. Stark, Z. Stark Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia Australian Genomics Health Alliance, Darlinghurst, New South Wales, AustraliaSearch for more papers by this authorF. White, F. White Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, UKSearch for more papers by this authorS. A. Jones, S. A. Jones Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, UKSearch for more papers by this authorK. Bhattacharya, K. Bhattacharya Genetic Metabolic Disorders Service, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia Disciplines of Genetic Medicine and Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this author Arthavan Selvanathan, Corresponding Author Arthavan Selvanathan [email protected] orcid.org/0000-0003-3073-2555 Genetic Metabolic Disorders Service, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia Correspondence Arthavan Selvanathan, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia. Email: [email protected]Search for more papers by this authorC. Forwood, C. Forwood Centre for Clinical Genetics, Sydney Children's Hospital, Sydney Children's Hospitals Network, Westmead, New South Wales, AustraliaSearch for more papers by this authorJ. Russell, J. Russell Genetic Metabolic Disorders Service, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia Centre for Clinical Genetics, Sydney Children's Hospital, Sydney Children's Hospitals Network, Westmead, New South Wales, AustraliaSearch for more papers by this authorK. Batten, K. Batten Department of Nutrition and Dietetics, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia Faculty of Medicine & Health, University of New South Wales, Sydney, New South Wales, AustraliaSearch for more papers by this authorS. Thompson, S. Thompson Department of Nutrition and Dietetics, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia Disciplines of Genetic Medicine and Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this authorE. E. Palmer, E. E. Palmer Centre for Clinical Genetics, Sydney Children's Hospital, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia Faculty of Medicine & Health, University of New South Wales, Sydney, New South Wales, AustraliaSearch for more papers by this authorR. Macintosh, R. Macintosh Centre for Clinical Genetics, Sydney Children's Hospital, Sydney Children's Hospitals Network, Westmead, New South Wales, AustraliaSearch for more papers by this authorS. Nightingale, S. Nightingale Department of Gastroenterology, John Hunter Children's Hospital, Newcastle, New South Wales, Australia School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, AustraliaSearch for more papers by this authorR. Mitchell, R. Mitchell Faculty of Medicine & Health, University of New South Wales, Sydney, New South Wales, Australia Kids Cancer Centre, Sydney Children's Hospital, Sydney Children's Hospitals Network, Westmead, New South Wales, AustraliaSearch for more papers by this authorF. Alvaro, F. Alvaro School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, Australia Children's Cancer and Haematology Service, John Hunter Children's Hospital, Newcastle, New South Wales, AustraliaSearch for more papers by this authorT. Dudding-Byth, T. Dudding-Byth School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, Australia NSW Genetics of Learning Disability (GOLD) Service, Hunter New England Health, Waratah, New South Wales, AustraliaSearch for more papers by this authorS. Lunke, S. Lunke Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, University of Melbourne, Melbourne, Victoria, AustraliaSearch for more papers by this authorJ. Christodoulou, J. Christodoulou Disciplines of Genetic Medicine and Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, Australia Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, University of Melbourne, Melbourne, Victoria, AustraliaSearch for more papers by this authorZ. Stark, Z. Stark Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia Australian Genomics Health Alliance, Darlinghurst, New South Wales, AustraliaSearch for more papers by this authorF. White, F. White Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, UKSearch for more papers by this authorS. A. Jones, S. A. Jones Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, UKSearch for more papers by this authorK. Bhattacharya, K. Bhattacharya Genetic Metabolic Disorders Service, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia Disciplines of Genetic Medicine and Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this author First published: 24 April 2023 https://doi.org/10.1002/pbc.30394 A different component of this work (focussing primarily on the diagnosis of Wolman disease via urWGS, with less focus on secondary HLH) was put forward as a poster presentation at the SSIEM 2022, held in Freiburg (Germany) on 30 August 2022 to 2 September 2022. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES 1Canna SW, Marsh RA. Pediatric hemophagocytic lymphohistiocytosis. Blood. 2020; 135(16): 1332-1343. doi:10.1182/blood.2019000936 2Zhang L, Dai L, Li D. Risk factors of early death in pediatric hemophagocytic lymphohistocytosis: retrospective cohort study. Front Pediatr. 2022; 10:1031432. doi:10.3389/fped.2022.1031432 3 Australian Genomics Health Alliance Acute Care Flagship, Lunke S, Eggers S, et al. 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