Hyperimmunoglobulinemia E Syndrome

Hyperimmunoglobulinemia E Syndrome is a topic covered in the Select 5-Minute Pediatrics Topics.

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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.

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