Genetic origins of hyper-IgE syndrome

Curr Allergy Asthma Rep. 2008 Sep;8(5):386-91. doi: 10.1007/s11882-008-0075-x.

Abstract

Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by high serum IgE, chronic eczematoid dermatitis, and recurrent extracellular bacterial infections. Two types of HIES have been reported: type 1 and type 2. Type 1 HIES displays abnormalities in multiple systems, including the skeletal, dental, and immune systems, whereas type 2 shows abnormalities confined to the immune system. We recently identified hypomorphic mutations in the signal transducer and activator of transcription 3 (STAT3) gene in type 1 HIES and a null mutation in the tyrosine kinase 2 (Tyk2) gene, accompanied by susceptibility to intracellular bacteria in type 2 HIES. Analyses of cytokine responses in both types of HIES revealed that severe defects in the signal transduction for multiple cytokines, including interleukin-6 and interleukin-23, are leading to impaired T-helper type 17 function. These findings suggest that HIES is caused by the defects in multiple cytokine signals and that the susceptibility to various infections in HIES is associated with the T-helper type 17 defect.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cytokines / immunology
  • Cytokines / metabolism*
  • Dermatitis / etiology
  • Dermatitis / immunology*
  • Humans
  • Immunoglobulin E / blood*
  • Interferon-alpha / immunology
  • Interferon-alpha / metabolism
  • Interleukin-17 / immunology
  • Interleukin-17 / metabolism
  • Janus Kinases / metabolism
  • Job Syndrome / drug therapy
  • Job Syndrome / etiology
  • Job Syndrome / genetics*
  • Job Syndrome / immunology*
  • Mice
  • Mice, Knockout
  • Mutation
  • STAT3 Transcription Factor / genetics*
  • STAT3 Transcription Factor / metabolism
  • Signal Transduction / genetics
  • TYK2 Kinase / deficiency
  • TYK2 Kinase / metabolism

Substances

  • Cytokines
  • Interferon-alpha
  • Interleukin-17
  • STAT3 Transcription Factor
  • Immunoglobulin E
  • Janus Kinases
  • TYK2 Kinase