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 can also be secondary to tyrosine kinase 2 (TYK2) signaling alterations and phosphoglucomutase 3 (PGM3) mutations.
- AR-HIES patients differ in phenotype from AD-HIES patients.
- Sporadic cases occur.
- STAT3 is integral in secretion and signaling of multiple cytokines involved in proinflammatory and anti-inflammatory responses.
- A failure of Th17 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.