Hyperimmunoglobulinemia E Syndrome
Hyperimmunoglobulinemia E Syndrome is a topic covered in the Select 5-Minute Pediatrics Topics.
To view the entire topic, please sign in or purchase a subscription.
Medicine Central™ is a quick-consult mobile and web resource that includes diagnosis, treatment, medications, and follow-up information on over 700 diseases and disorders, providing fast answers—anytime, anywhere. Explore these free sample topics:
-- The first section of this topic is shown below --
Basics
Description
Hyperimmunoglobulinemia E syndrome (HIES) is a primary immunodeficiency with markedly elevated serum IgE associated with recurrent skin abscesses, pulmonary infections, and eczematoid dermatitis.
Epidemiology
- Rare
- True incidence and prevalence is unknown; affects equal numbers of males and females
Risk Factors
Genetics
- Autosomal dominant cases (AD-HIES) are caused by mutations in signal transducer and activator of transcription 3 (STAT3).
- Autosomal recessive cases (AR-HIES) have mutations in the dedicator of cytokinesis-8 gene (DOCK8).
- AR-HIES patients differ in phenotype from AD-HIES patients.
- Sporadic cases do occur.
Pathophysiology
- STAT3 is integral in secretion and signaling of multiple cytokines involved in proinflammatory and anti-inflammatory responses.
- A failure of Th 17 cell differentiation and failure of IL-17 secretion makes patients susceptible to Candida infections.
- Deficiency in IL-11 signaling results in tooth abnormalities and craniosynostosis.
- DOCK8 deficiency results in failure of dendritic cells to migrate to lymph nodes and affects long-term memory B cells and viral-specific CD8+ T cells.
-- To view the remaining sections of this topic, please sign in or purchase a subscription --
Citation
Cabana, Michael D., editor. "Hyperimmunoglobulinemia E Syndrome." Select 5-Minute Pediatrics Topics, 7th ed., Wolters Kluwer Health, 2015. Medicine Central, im.unboundmedicine.com/medicine/view/Select-5-Minute-Pediatric-Consult/14204/all/Hyperimmunoglobulinemia_E_Syndrome.
Hyperimmunoglobulinemia E Syndrome. In: Cabana MD, ed. Select 5-Minute Pediatrics Topics. 7th ed. Wolters Kluwer Health; 2015. https://im.unboundmedicine.com/medicine/view/Select-5-Minute-Pediatric-Consult/14204/all/Hyperimmunoglobulinemia_E_Syndrome. Accessed December 5, 2019.
Hyperimmunoglobulinemia E Syndrome. (2015). In Cabana, M. D. (Ed.), Select 5-Minute Pediatrics Topics. Available from https://im.unboundmedicine.com/medicine/view/Select-5-Minute-Pediatric-Consult/14204/all/Hyperimmunoglobulinemia_E_Syndrome
Hyperimmunoglobulinemia E Syndrome [Internet]. In: Cabana MD, editors. Select 5-Minute Pediatrics Topics. Wolters Kluwer Health; 2015. [cited 2019 December 05]. Available from: https://im.unboundmedicine.com/medicine/view/Select-5-Minute-Pediatric-Consult/14204/all/Hyperimmunoglobulinemia_E_Syndrome.
* Article titles in AMA citation format should be in sentence-case
TY - ELEC
T1 - Hyperimmunoglobulinemia E Syndrome
ID - 14204
ED - Cabana,Michael D,
BT - Select 5-Minute Pediatrics Topics
UR - https://im.unboundmedicine.com/medicine/view/Select-5-Minute-Pediatric-Consult/14204/all/Hyperimmunoglobulinemia_E_Syndrome
PB - Wolters Kluwer Health
ET - 7
DB - Medicine Central
DP - Unbound Medicine
ER -