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ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma.

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Title: ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma.
Authors: Fu MP; British Columbia Children's Hospital, Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia , Vancouver, Canada.; Edwin S.H. Leong Centre for Healthy Aging, University of British Columbia , Vancouver, Canada., Sharma M; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Yousefi P; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Merrill SM; Department of Psychiatry and Human Behavior, The Warren Alpert Medical School at Brown University, Providence, RI, USA., Tan R; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Samra S; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.; Experimental Medicine Program, Department of Medicine, The University of British Columbia , Vancouver, Canada., Setiadi A; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada., Golding L; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Modi BP; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Del Bel KL; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Deyell RJ; Division of Pediatric Hematology/Oncology/BMT, Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, Canada., Rozmus J; Division of Pediatric Hematology/Oncology/BMT, Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, Canada., Rehmus W; Division of Pediatric Dermatology, Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, Canada., Hildebrand KJ; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., James E; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Blanchard-Rohner G; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.; Unit of Immunology, Vaccinology, and Rheumatology, Division of General Pediatrics, Department of Pediatrics, Gynecology and Obstetrics, Geneva University Hospitals and University of Geneva, Geneva, Switzerland., Lin S; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Shopsowitz KE; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada., Terry J; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada., Lee AF; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada., Drögemöller BI; Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Canada.; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, Canada., Matthews A; British Columbia Children's Hospital, Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia , Vancouver, Canada., Tarailo-Graovac M; British Columbia Children's Hospital, Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia , Vancouver, Canada.; Alberta Children's Hospital Research Institute, Department of Biochemistry and Molecular Biology and Department of Medical Genetics, Cumming School of Medicine, University of Calgary , Calgary, Canada., Sauvé L; Division of Pediatric Infectious Diseases, Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, Canada., Mitchell H; Division of Pediatric Infectious Diseases, Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, Canada., Prendiville JS; Division of Pediatric Dermatology, Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, Canada., MacIsaac JL; British Columbia Children's Hospital, Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia , Vancouver, Canada.; Edwin S.H. Leong Centre for Healthy Aging, University of British Columbia , Vancouver, Canada., Dever K; British Columbia Children's Hospital, Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia , Vancouver, Canada.; Edwin S.H. Leong Centre for Healthy Aging, University of British Columbia , Vancouver, Canada., Lin DTS; British Columbia Children's Hospital, Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia , Vancouver, Canada., Meijer M; British Columbia Children's Hospital, Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia , Vancouver, Canada.; Edwin S.H. Leong Centre for Healthy Aging, University of British Columbia , Vancouver, Canada., Ross CJD; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, Canada., Dobson SRM; Division of Pediatric Infectious Diseases, Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, Canada., Vercauteren SM; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada., Wasserman WW; British Columbia Children's Hospital, Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia , Vancouver, Canada., van Karnebeek CDM; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute , Vancouver, Canada., McKinnon ML; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, Canada., Kobor MS; British Columbia Children's Hospital, Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia , Vancouver, Canada.; Edwin S.H. Leong Centre for Healthy Aging, University of British Columbia , Vancouver, Canada., Turvey SE; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Biggs CM; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.
Source: The Journal of experimental medicine [J Exp Med] 2025 Oct 06; Vol. 222 (10). Date of Electronic Publication: 2025 Jul 31.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 2985109R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-9538 (Electronic) Linking ISSN: 00221007 NLM ISO Abbreviation: J Exp Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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IllustrationInfo
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  Data: ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma.
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  Data: <searchLink fieldCode="AU" term="%22Fu+MP%22">Fu MP</searchLink>; British Columbia Children's Hospital, Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia , Vancouver, Canada.; Edwin S.H. 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Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Canada.; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Matthews+A%22">Matthews A</searchLink>; British Columbia Children's Hospital, Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia , Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Tarailo-Graovac+M%22">Tarailo-Graovac M</searchLink>; British Columbia Children's Hospital, Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia , Vancouver, Canada.; Alberta Children's Hospital Research Institute, Department of Biochemistry and Molecular Biology and Department of Medical Genetics, Cumming School of Medicine, University of Calgary , Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Sauvé+L%22">Sauvé L</searchLink>; Division of Pediatric Infectious Diseases, Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Mitchell+H%22">Mitchell H</searchLink>; Division of Pediatric Infectious Diseases, Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Prendiville+JS%22">Prendiville JS</searchLink>; Division of Pediatric Dermatology, Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22MacIsaac+JL%22">MacIsaac JL</searchLink>; British Columbia Children's Hospital, Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia , Vancouver, Canada.; Edwin S.H. Leong Centre for Healthy Aging, University of British Columbia , Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Dever+K%22">Dever K</searchLink>; British Columbia Children's Hospital, Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia , Vancouver, Canada.; Edwin S.H. Leong Centre for Healthy Aging, University of British Columbia , Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Lin+DTS%22">Lin DTS</searchLink>; British Columbia Children's Hospital, Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia , Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Meijer+M%22">Meijer M</searchLink>; British Columbia Children's Hospital, Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia , Vancouver, Canada.; Edwin S.H. 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