Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs)

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• 作者：Jay P. Patel (1)
  Jennifer M. Puck (2)
  Rajgopal Srinivasan (3)
  Christina Brown (4)
  Uma Sunderam (3)
  Kunal Kundu (3)
  Steven E. Brenner (5)
  Richard A. Gatti (4)
  Joseph A. Church (6)
  
  1. Division of General Pediatrics ; Children鈥檚 Hospital of Los Angeles ; Los Angeles ; CA ; USA
  2. Department of Pediatrics and Institute for Human Genetics ; University of California ; San Francisco and UCSF Benioff Children鈥檚 Hospital ; San Francisco ; CA ; USA
  3. Tata Consultancy Services Ltd. ; Hyderabad ; Telengana ; India
  4. Departments of Human Genetics and Pathology & Laboratory Medicine ; David Geffen School of Medicine ; University of California ; Los Angeles ; CA ; USA
  5. Department of Plant and Microbial Biology ; University of California ; Berkeley ; CA ; USA
  6. Division of Clinical Immunology and Allergy ; Children鈥檚 Hospital of Los Angeles ; Keck School of Medicine ; University of Southern California ; Los Angeles ; CA ; USA
  
• 关键词：Nijmegen breakage syndrome ; TREC ; SCID ; exome sequencing ; nibrin ; T lymphopenia
• 刊名：Journal of Clinical Immunology
• 出版年：2015
• 出版时间：February 2015
• 年：2015
• 卷：35
• 期：2
• 页码：227-233
• 全文大小：295 KB
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• 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 Severe combined immunodeficiency (SCID) encompasses a group of disorders characterized by reduced or absent T-cell number and function and identified by newborn screening utilizing T-cell receptor excision circles (TRECs). This screening has also identified infants with T lymphopenia who lack mutations in typical SCID genes. We report an infant with low TRECs and non-SCID T lymphopenia, who proved upon whole exome sequencing to have Nijmegen breakage syndrome (NBS). Methods Exome sequencing of DNA from the infant and his parents was performed. Genomic analysis revealed deleterious variants in the NBN gene. Confirmatory testing included Sanger sequencing and immunoblotting and radiosensitivity testing of patient lymphocytes. Results Two novel nonsense mutations in NBN were identified in genomic DNA from the family. Immunoblotting showed absence of nibrin protein. A colony survival assay demonstrated radiosensitivity comparable to patients with ataxia telangiectasia. Conclusions Although TREC screening was developed to identify newborns with SCID, it has also identified T lymphopenic disorders that may not otherwise be diagnosed until later in life. Timely identification of an infant with T lymphopenia allowed for prompt pursuit of underlying etiology, making possible a diagnosis of NBS, genetic counseling, and early intervention to minimize complications.