Hyperimmunoglobulin e syndromes in pediatrics

Qian Zhang, Helen C. Su

Research output: Contribution to journalReview article

29 Citations (Scopus)


PURPOSE OF REVIEW: The hyper-IgE syndromes (HIES) are primary immunodeficiencies characterized by eczema, sinopulmonary infections, and elevated serum IgE. This review discusses the clinical similarities and differences between the autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES) forms, as well as their causative genetic and pathophysiological mechanisms. RECENT FINDINGS: Over the past 4 years, three genetic defects have been identified in HIES. Mutations in STAT3 are associated with AD-HIES, whereas mutations in DOCK8, or rarely TYK2, are associated with AR-HIES. Recent work has confirmed that measuring T helper 17 cell numbers can help predict STAT3 mutations. In AR-HIES, loss of DOCK8 expression was found to impair T cell expansion and durable-specific antibody production by B cells. These factors probably contribute to the viral skin and other infectious susceptibilities, severe allergies, and high risk of malignancies that define this disorder. SUMMARY: Establishing the molecular diagnosis of HIES is important for optimal patient management. Infections in AD-HIES are usually well controlled by antibiotics. By contrast, the viral infections in AR-HIES are difficult to manage. Their higher mortality and progressive course emphasizes the need to identify AR-HIES patients early, for consideration of potentially curative hematopoietic cell transplantation.

Original languageEnglish
Pages (from-to)653-658
Number of pages6
JournalCurrent Opinion in Pediatrics
Issue number6
Publication statusPublished - Dec 2011
Externally publishedYes



  • cutaneous viral infection
  • DOCK8
  • hyper-IgE syndrome
  • STAT3
  • TYK2

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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