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Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3

J Exp Med. 2008 Jul 7;205(7):1551-7. doi: 10.1084/jem.20080218.

Abstract

Hyper-immunoglobulin E syndrome (HIES) is a primary immune deficiency characterized by abnormal and devastating susceptibility to a narrow spectrum of infections, most commonly Staphylococcus aureus and Candida albicans. Recent investigations have identified mutations in STAT3 in the majority of HIES patients studied. Despite the identification of the genetic cause of HIES, the mechanisms underlying the pathological features of this disease remain to be elucidated. Here, we demonstrate a failure of CD4+ T cells harboring heterozygous STAT3 mutations to generate interleukin 17-secreting (i.e., T helper [Th]17) cells in vivo and in vitro due to a failure to express sufficient levels of the Th17-specific transcriptional regulator retinoid-related orphan receptor t. Because Th17 cells are enriched for cells with specificities against fungal antigens, our results may explain the pattern of infection susceptibility characteristic of patients with HIES. Furthermore, they underscore the importance of Th17 responses in normal host defense against the common pathogens S. aureus and C. albicans.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, Fungal / immunology
  • Candida albicans / immunology
  • Candidiasis / genetics
  • Candidiasis / immunology
  • Child
  • Female
  • Humans
  • Interleukin-17 / deficiency*
  • Interleukin-17 / immunology
  • Job Syndrome / genetics*
  • Job Syndrome / immunology*
  • Job Syndrome / microbiology
  • Job Syndrome / pathology
  • Male
  • Receptors, Cytoplasmic and Nuclear / genetics
  • Receptors, Cytoplasmic and Nuclear / immunology
  • STAT3 Transcription Factor / genetics*
  • STAT3 Transcription Factor / immunology*
  • Staphylococcal Infections / genetics
  • Staphylococcal Infections / immunology
  • Staphylococcus aureus / immunology
  • T-Lymphocytes, Helper-Inducer / immunology*

Substances

  • Antigens, Fungal
  • Interleukin-17
  • Receptors, Cytoplasmic and Nuclear
  • STAT3 Transcription Factor
  • STAT3 protein, human