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Practice

Innovations in genomics for undiagnosed diseases: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome

Ryan J. Stubbins, Hannah Cherniawsky, Luke Y.C. Chen and Thomas J. Nevill
CMAJ April 11, 2022 194 (14) E524-E527; DOI: https://doi.org/10.1503/cmaj.211770
Ryan J. Stubbins
Leukemia/Bone Marrow Transplant Program of British Columbia (Stubbins, Cherniawsky, Nevill), British Columbia Cancer; Division of Hematology, Department of Medicine (Stubbins, Cherniawsky, Chen, Nevill), University of British Columbia, Vancouver, BC
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Hannah Cherniawsky
Leukemia/Bone Marrow Transplant Program of British Columbia (Stubbins, Cherniawsky, Nevill), British Columbia Cancer; Division of Hematology, Department of Medicine (Stubbins, Cherniawsky, Chen, Nevill), University of British Columbia, Vancouver, BC
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Luke Y.C. Chen
Leukemia/Bone Marrow Transplant Program of British Columbia (Stubbins, Cherniawsky, Nevill), British Columbia Cancer; Division of Hematology, Department of Medicine (Stubbins, Cherniawsky, Chen, Nevill), University of British Columbia, Vancouver, BC
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Thomas J. Nevill
Leukemia/Bone Marrow Transplant Program of British Columbia (Stubbins, Cherniawsky, Nevill), British Columbia Cancer; Division of Hematology, Department of Medicine (Stubbins, Cherniawsky, Chen, Nevill), University of British Columbia, Vancouver, BC
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  • Stubbins, R. J., Cherniawsky, H., Chen, L. Y., & Nevill, T. J. (2022). Innovations en génomique pour les maladies non diagnostiquées: le syndrome VEXAS (vacuoles intracytoplasmiques dans les progéniteurs médullaires, E1 ubiquitine ligase, liée à l’X, syndrome auto-inflammatoire, mutation somatique). CMAJ, 194(34), E1179-E1183. Accessed May 28, 2023. https://doi.org/10.1503/cmaj.211770-f.
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Canadian Medical Association Journal: 194 (14)
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11 Apr 2022
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Innovations in genomics for undiagnosed diseases: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome
Ryan J. Stubbins, Hannah Cherniawsky, Luke Y.C. Chen, Thomas J. Nevill
CMAJ Apr 2022, 194 (14) E524-E527; DOI: 10.1503/cmaj.211770

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Innovations in genomics for undiagnosed diseases: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome
Ryan J. Stubbins, Hannah Cherniawsky, Luke Y.C. Chen, Thomas J. Nevill
CMAJ Apr 2022, 194 (14) E524-E527; DOI: 10.1503/cmaj.211770
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    • What are autoinflammatory syndromes and how can they present?
    • What is VEXAS syndrome and when should it be considered as a diagnosis?
    • How can a diagnosis of VEXAS syndrome be confirmed?
    • How are patients with VEXAS syndrome treated and by whom?
    • How might genomic medicine influence clinical practice in the future?
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  • Innovations en génomique pour les maladies non diagnostiquées: le syndrome VEXAS (vacuoles intracytoplasmiques dans les progéniteurs médullaires, E1 ubiquitine ligase, liée à l’X, syndrome auto-inflammatoire, mutation somatique)
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