Hyper-IgE syndrome (HIES) is a rare, hereditary multisystem disorder characterized clinically by hyperimmunoglobulinemia E, recurrent infections, and eczematoid dermatitis. In 1966, Job reported two patients with eczematous dermatitis, recurrent staphylococcal boils, hyperextensible joints, and distinctive coarse facies. In 1972, Buckley et al. expanded the clinical picture by adding elevated immunoglobulin E (IgE).
Synonyms and Related Disorders
Inheritance (Erlewyn-Lajeunnesse 2000)
Autosomal dominant with variable penetrance and expressivity
Linkage to a region on chromosome 4q21demonstrated in several affected families
An upregulating mutation in the interleukin-4 receptor gene on chromosome 16, demonstrated in some patients with hyper-IgE syndrome
Autosomal recessive hyper-IgE syndrome: a similar but distinct syndrome reported by Renner et al. (2004)
Autosomal dominant hyper-IgE syndrome (AD-HIES): caused by...
KeywordsPreimplantation Genetic Diagnosis Root Resorption Otitis Externa Molluscum Contagiosum Coarse Facies
- Freeman, A.F., Davis, J., Hsu, A.P., et al (2010). Autosomal dominant IgE syndrome. GeneReviews. Initial posting February 23, 2010. Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=higes
- Gatz, S. A., Benninghoff, U., & Schütz, C. (2010). Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation. Bone Marrow Transplantation, 46, 552–554.Google Scholar
- Renner, E. D., Ryalaarsdam, S., Anover-Sombke, S., et al. (2008). Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and STAT3 phosphorylation in hyper-IgE syndrome. The Journal of Allergy and Clinical Immunology, 122, 181–187.PubMedCrossRefGoogle Scholar