For information or to submit a new mutation, contact the database curator.
Hyper IgE recurrent infection syndrome (HIES or Job’s syndrome) is a rare disorder of immunity and connective tissue.
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.
STAT3base: Schematic of Mutations Causing HIES
Distribution of STAT3 Mutations Causing HIES (PDF)
Literature Citations: HIES, Phenotypes and Mutations
Scoring System with Clinical and Laboratory Tests for Individuals in Kindreds with HIES (PDF)
Clinical Trials at NIH
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