Identification of FOXP3-negative regulatory T-like (CD4 +CD25 +CD127 low) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

Keisuke Otsubo, Hirokazu Kanegane, Yoshiro Kamachi, Ichiro Kobayashi, Ikuya Tsuge, Masue Imaizumi, Yoji Sasahara, Akira Hayakawa, Kandai Nozu, Kazumoto Iijima, Shuichi Ito, Reiko Horikawa, Yoshinori Nagai, Kiyoshi Takatsu, Hisashi Mori, Hans D. Ochs, Toshio Miyawaki

Research output: Contribution to journalArticlepeer-review

43 Citations (Scopus)

Abstract

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an autoimmune disorder caused by mutations in the FOXP3 gene, which plays a key role in the generation of CD4 +CD25 +regulatory T (Treg) cells. We selected CD127 as the surface marker of Treg cells to illustrate the development and function of Treg cells in IPEX syndrome. CD4 +CD25 +FOXP3 + T cells, the putative Treg cells, were almost completely absent in all patients. Importantly, a substantial number of CD4 +CD25 +CD127 low T cells were observed in 3 IPEX patients with hypomorphic mutations in the FOXP3 gene. We demonstrated that CD4 +CD25 +CD127 low T cells isolated from these 3 patients exhibited an appreciable suppressive activity on effector T cell proliferation, although less than that displayed by Treg cells from healthy controls. These results suggest that genetically altered FOXP3 can drive the generation of functionally immature Treg cells, but that intact FOXP3 is necessary for the complete function of Treg cells.

Original languageEnglish
Pages (from-to)111-120
Number of pages10
JournalClinical Immunology
Volume141
Issue number1
DOIs
Publication statusPublished - 2011 Oct

Keywords

  • CD127
  • FOXP3
  • Hematopoietic stem cell transplantation
  • Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX)
  • Regulatory T cells

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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