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For information, or to submit a new mutation, contact the database curator.
Email: twins@mail.nih.gov

Additional Information From NIAID

Laboratory of Clinical Infectious Diseases

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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 Infectious Diseases 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

Distribution of STAT3 Mutations Causing HIES (PDF)

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 (PDF)

Clinical Trials at NIH

Other NIH Mutation Databases

X-linked SCID mutation database (IL2RGbase)
National Human Genome Research Institute

Autoimmune Lymphoproliferative Syndrome Database (ALPSbase)
National Human Genome Research Institute

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Last Updated March 24, 2010