Database of Mutations Causing Human Hyper IgE Syndrome (STAT3base)

Hyper IgE recurrent infection syndrome (HIES or Job’s syndrome) is a rare disorder of immunity and connective tissue.

  • Characteristics of HIES include dermatitis, boils, cyst-forming pneumonias, elevated levels of serum IgE, retained primary dentition, and bone abnormalities.
  • The majority of patients with HIES have an autosomal dominant mutation in the signal transducer and activator of the transcription 3 (STAT3) molecule.
  • Both sporadic cases and familial cases are observed.

STAT3 mutations in human HIES identified in the Laboratory of Clinical Immunology and Microbiology as well as those published in the literature are presented below (STAT3base). These have been compiled to demonstrate critical regions of the protein and sites of recurrent mutations resulting in HIES.

Resources

STAT3base: Schematic of Mutations Causing HIES (JPG)

Distribution of STAT3 Mutations Causing HIES

Clinical Features

Literature Citations: HIES, Phenotypes and Mutations

Research on Hyper IgE at the National Institutes of Health (NIH)

Scoring System with Clinical and Laboratory Tests for Individuals in Kindreds with HIES

Clinical Trials at NIH

Other NIH Mutation Databases

ClinVar
National Center for Biotechnology Information

Content last reviewed on March 24, 2010