An update on the hyper-IgE syndromes

Arthritis Res Ther. 2012 Nov 30;14(6):228. doi: 10.1186/ar4069.


The hyper-IgE syndromes (HIES; originally named Job's syndrome) are a collection of primary immunodeficiency syndromes resulting in elevated serum IgE levels and typified by recurrent staphylococcal skin abscesses, eczema and pulmonary infections. The disorder has autosomal dominant and recessive forms. Autosomal dominant HIES has been shown to be mainly due to STAT3 mutations and additionally results in connective tissue, skeletal, vascular and dental abnormalities. Autosomal recessive HIES has been shown to be mainly due to mutations in DOCK8; these patients are more prone to viral skin infections instead. This review article discusses the common clinical features of the syndrome, the genetic mutations responsible and the pathogenesis of the disease, as well as treatments currently used.

Publication types

  • Review

MeSH terms

  • Genes, Dominant / genetics*
  • Genes, Recessive / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Guanine Nucleotide Exchange Factors / genetics
  • Humans
  • Job Syndrome / genetics*
  • Job Syndrome / pathology
  • Job Syndrome / therapy
  • Mutation*
  • STAT3 Transcription Factor / genetics


  • DOCK8 protein, human
  • Guanine Nucleotide Exchange Factors
  • STAT3 Transcription Factor