Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection

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• 作者：Cullen M. Dutmer ; Edwin J. Asturias ; Christiana Smith…
• 关键词：RAG2 ; T cell lymphopenia ; immunosuppression ; vaccine ; strain virus infection
• 刊名：Journal of Clinical Immunology
• 出版年：2015
• 出版时间：November 2015
• 年：2015
• 卷：35
• 期：8
• 页码：754-760
• 全文大小：423 KB
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• 作者单位：Cullen M. Dutmer (1)
  Edwin J. Asturias (2) (3)
  Christiana Smith (2)
  Megan K. Dishop (4)
  D. Scott Schmid (5)
  William J. Bellini (5)
  Irit Tirosh (6)
  Yu Nee Lee (6)
  Luigi D. Notarangelo (6)
  Erwin W. Gelfand (1)
  
  1. Department of Pediatrics, National Jewish Health, 1400 Jackson Street, K801, Denver, CO, 80206-2761, USA
  2. Department of Pediatric Infectious Diseases, University of Colorado School of Medicine, Aurora, CO, USA
  3. Center for Global Health, Colorado School of Public Health, Aurora, CO, USA
  4. Department of Pathology, University of Colorado School of Medicine, Aurora, CO, USA
  5. Division of Viral Diseases, National Center for Immunization and Respiratory Diseases, Centers for Disease Control and Prevention, Atlanta, GA, USA
  6. Division of Immunology, Boston Children鈥檚 Hospital, Boston, MA, USA
  
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Immunology
  Infectious Diseases
  Internal Medicine
  Medical Microbiology
  
• 出版者：Springer Netherlands
• ISSN：1573-2592

文摘

Purpose Hypomorphic mutations in RAG1 and RAG2 are associated with significant clinical heterogeneity and symptoms of immunodeficiency or autoimmunity may be late in appearance. As a result, immunosuppressive medications may be introduced that can have life-threatening consequences. We describe a previously healthy 13-month-old girl presenting with rash and autoimmune hemolytic anemia, while highlighting the importance of vigilance and consideration of an underlying severe immunodeficiency disease prior to instituting immunosuppressive therapy.