Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Autosomal dominant hyper IgE syndrome


Other Names for this Disease
  • AD-HIES
  • Hyper Ig E syndrome, autosomal dominant
  • HIES autosomal dominant
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant
  • AD hyperimmunoglobulin E syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

Newline Maker

How is autosomal dominant hyper IgE syndrome diagnosed?

The diagnosis of autosomal dominant hyper IgE syndrome (AD-HIES) is most often made based on a combination of clinical and laboratory findings. Diagnostic guidelines have been developed that include both immunologic /infectious manifestations and skeletal/connective tissue abnormalities. Molecular genetic testing of the STAT3 gene confirms the diagnosis.[1]

GeneReviews provides more detailed information about the diagnosis of AD-HIES.

Last updated: 12/3/2015

References
  1. Hsu AP, Davis J, Puck JM, Holland SM, Freeman AF. Autosomal Dominant Hyper IgE Syndrome. GeneReviews. June 2012; http://www.ncbi.nlm.nih.gov/books/NBK25507/. Accessed 12/3/2015.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • AD-HIES
  • Hyper Ig E syndrome, autosomal dominant
  • HIES autosomal dominant
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant
  • AD hyperimmunoglobulin E syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.