Review: Hyper-IgE syndrome

Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria.


Phagocyte immunodeficiency (click to enlarge the image).

Non-immunological abnormalities in HIES include:

- distinctive facial appearance
- fracture following minor trauma
- scoliosis
- hyperextensive joints
- retention of deciduous teeth

Genetic basis:

- Dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3) gene result in the classical multisystem form of HIES
- A null mutation in the tyrosine kinase 2 (TYK2) gene causes an autosomal recessive HIES associated with viral and mycobacterial infections

Signal transduction for multiple cytokines, including IL-6 and IL-23, is was defective, resulting in impaired TH17 function.

References:

Hyper-IgE syndrome. Yoshiyuki Minegishia. Current Opinion in Immunology, 2009.
doi:10.1016/j.coi.2009.07.013
Hyper IgE Syndrome (HIES)
Cutaneous Manifestations of Hyper IgE Syndrome (full text PDF) and http://goo.gl/uJWMT