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 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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