Milder clinical hyperimmunoglobulin E syndrome phenotype is associated with partial interleukin-17 deficiency

Clin Exp Immunol. 2010 Jan;159(1):57-64. doi: 10.1111/j.1365-2249.2009.04043.x. Epub 2009 Oct 30.

Abstract

Mutations in the signal transducer and activator of transcription 3 (STAT3) were reported to cause hyperimmunoglobulin E syndrome (HIES). The present study investigates T helper type 17 (Th17) responses triggered by the relevant stimuli Staphylococcus aureus and Candidia albicans in five 'classical' HIES patients, and a family with three patients who all had a milder HIES phenotype. We demonstrate that patients with various forms of HIES have different defects in their Th17 response to S. aureus and C. albicans, and this is in line with the clinical features of the disease. Interestingly, a partial deficiency of interleukin (IL)-17 production, even when associated with STAT3 mutations, leads to a milder clinical phenotype. We also observed defective Th17 responses in patients with the 'classical' presentation of the disease but without STAT3 mutations. These data demonstrate that defective IL-17 production in response to specific pathogens can differ between patients with HIES and that the extent of the defective Th17 response determines their clinical phenotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • CD4-Positive T-Lymphocytes / immunology
  • CD4-Positive T-Lymphocytes / metabolism
  • Candida albicans / immunology
  • Female
  • Humans
  • Interferon-gamma / metabolism
  • Interleukin-10 / metabolism
  • Interleukin-10 / pharmacology
  • Interleukin-17 / deficiency*
  • Interleukin-17 / metabolism
  • Interleukin-1beta / metabolism
  • Interleukin-6 / pharmacology
  • Job Syndrome / diagnosis*
  • Job Syndrome / immunology
  • Job Syndrome / metabolism*
  • Leukocytes, Mononuclear / immunology
  • Leukocytes, Mononuclear / metabolism
  • Male
  • Middle Aged
  • Pedigree
  • STAT3 Transcription Factor / genetics
  • Signal Transduction / immunology
  • Staphylococcus aureus / immunology
  • T-Lymphocyte Subsets / immunology
  • T-Lymphocyte Subsets / metabolism

Substances

  • IL10 protein, human
  • Interleukin-17
  • Interleukin-1beta
  • Interleukin-6
  • STAT3 Transcription Factor
  • STAT3 protein, human
  • Interleukin-10
  • Interferon-gamma