No indication for a defect in toll-like receptor signaling in patients with hyper-IgE syndrome

J Clin Immunol. 2005 Jul;25(4):321-8. doi: 10.1007/s10875-005-4183-2.

Abstract

Hyper-IgE syndrome is a rare primary immunodeficiency of unknown etiology characterized by recurrent infections of the skin and respiratory system, chronic eczema, elevated total serum IgE, and a variety of associated skeletal symptoms. Recent reports about susceptibility to pyogenic bacterial infections and high IgE levels in patients and animals with defects in toll-like receptor (TLR) signaling pathways prompted us to search for TLR signaling defects as an underlying cause of hyper-IgE syndrome. Blood samples from six patients with hyper-IgE syndrome were analyzed for serum cytokine levels, intracellular cytokine production in T cells after stimulation with PMA/ionomycin, and cytokine production from peripheral blood mononuclear cells stimulated by TLR ligands and bacterial products including LPS (TLR4), peptidoglycan (TLR2), PolyIC (TLR3), R848 (TLR7/8), CpG-A, and CpG-B (TLR9), zymosan and heat killed Listeria monocytogenes. All results were compared to data from healthy controls. A reduction in IFN-gamma, IL-2, and TNF-alpha producing T cells after PMA stimulation suggested a reduced inflammatory T cell response in patients with hyper-IgE syndrome. Increased serum levels of IL-5 indicated a concomitant Th2 shift. However, normal production of cytokines (TNF-alpha, IL-6, IL-10, IFN-alpha, IP-10) and upregulation of CD86 on B cells and monocytes after TLR stimulation made a defect in TLR signaling pathways highly unlikely. In summary, our data confirmed an imbalance in T cell responses of patients with hyper-IgE syndrome as previously described but showed no indication for an underlying defect in toll-like receptor signaling.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Candidiasis / immunology
  • Child
  • Child, Preschool
  • Cytokines / biosynthesis
  • Cytokines / blood
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Immunoglobulin E / biosynthesis
  • Immunoglobulin E / blood
  • Infant
  • Job Syndrome / blood
  • Job Syndrome / immunology*
  • Job Syndrome / microbiology
  • Ligands
  • Male
  • Signal Transduction / immunology*
  • Staphylococcal Infections / immunology
  • T-Lymphocytes / immunology
  • T-Lymphocytes / metabolism
  • Toll-Like Receptors / metabolism
  • Toll-Like Receptors / physiology*

Substances

  • Cytokines
  • Ligands
  • Toll-Like Receptors
  • Immunoglobulin E