大型HCCII类缺乏症:在大型多中心队列中的临床,免疫和遗传见解

Zeynep Gulec Koksal1, Sevgi Bilgic Eltan2, Ezgi Topyildiz3

  • 1Department of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey; Department of Pediatric Allergy and Immunology, Faculty of Medicine, Aydin Adnan Menderes University, Aydin, Turkey.

概括

大型组织相容性复合体II类缺陷 (MHC-II) 是一种严重的综合免疫缺陷. 这项研究确定RFXANK和RFX5基因突变是影响MHC-II缺乏症患者诊断和生存的关键因素.

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