Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients

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• 作者：Inge C. de Vor ; Pomme M. van der Meulen ; Vincent Bekker…
• 关键词：MSMD ; IFN ; γR1 deficiency ; IFNGR1 ; Mycobacterium fortuitum ; EBV ; IL22RA2
• 刊名：Journal of Clinical Immunology
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：36
• 期：3
• 页码：195-203
• 全文大小：530 KB
• 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 Complete interferon-γ receptor 1 (IFN-γR1) deficiency is a primary immunodeficiency causing predisposition to severe infection due to intracellular pathogens. Only 36 cases have been reported worldwide. The purpose of this article is to describe a large novel deletion found in 3 related cases, which resulted in the complete removal of the IFNGR1 gene.