Graves' Disease in Pediatric and Elderly Patients with 22q11.2 Deletion Syndrome

  • Ueda Yoko
    The First Department of Medicine, Wakayama Medical University, Japan
  • Uraki Shinsuke
    The First Department of Medicine, Wakayama Medical University, Japan
  • Inaba Hidefumi
    The First Department of Medicine, Wakayama Medical University, Japan
  • Nakashima Sakiko
    The First Department of Medicine, Wakayama Medical University, Japan
  • Ariyasu Hiroyuki
    The First Department of Medicine, Wakayama Medical University, Japan
  • Iwakura Hiroshi
    The First Department of Medicine, Wakayama Medical University, Japan
  • Ota Takayuki
    The First Department of Medicine, Wakayama Medical University, Japan
  • Furuta Hiroto
    The First Department of Medicine, Wakayama Medical University, Japan
  • Nishi Masahiro
    The First Department of Medicine, Wakayama Medical University, Japan
  • Akamizu Takashi
    The First Department of Medicine, Wakayama Medical University, Japan

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Abstract

<p>22q11.2 Deletion Syndrome (22qDS) is often complicated by autoimmune diseases. To clarify the causal relationship, we examined the lymphocyte subset distribution and the human leucocyte antigen (HLA) in two female patients (one child and an elderly) with Graves' disease (GD) and 22qDS. Thymus dysgenesis might have contributed to the T-cell imbalance and the lack of negative selection in both cases. Notably, HLA-DR14, a known risk factor for GD in Japanese individuals and the decreased regulatory T-cell numbers that were seen in the pediatric case, may affect the early onset of GD. Central and peripheral tolerance and Th1 cells appeared to be associated with the pathogenesis of GD in 22qDS. </p>

Journal

  • Internal Medicine

    Internal Medicine 56 (10), 1169-1173, 2017

    The Japanese Society of Internal Medicine

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