Hyperimmunoglobulinemia E Syndrome
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Hyperimmunoglobulinemia E syndrome (HIES) is a primary immunodeficiency with markedly elevated serum IgE associated with recurrent skin abscesses, pulmonary infections, and eczematoid dermatitis.
- True incidence and prevalence is unknown; affects equal numbers of males and females
- 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.
- 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.
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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.
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