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Updated: Dec 25 2021

Hyper-IgE Syndrome

  • Snapshot
    • A 7-year-old child presents to the emergency room for painful bumps on his knee. He had fallen a few days ago and scraped his knee. Since then, he has had increasingly painful bumps develop. There is some pus drainage but no erythema and no warmth. The lesions are cool to the touch. On physical exam, he is noted to have retained primary teeth, eczematous patches on his cheeks, and 2 cold abscesses on his right knee. He is started on antibiotics, and Ig levels are sent to the laboratory. Only IgE is elevated. A complete blood count with differential shows increased eosinophils.
  • Introduction
    • Clinical definition
      • hyper IgE syndrome, also known as Job syndrome, is a primary immunodeficiency characterized by defective neutrophil chemotaxis
    • Pathogenesis
      • defect in the JAK-STAT pathway causes impaired recruitment of neutrophils
    • Genetics
      • autosomal dominant
      • STAT3 mutation
  • Presentation
    • Symptoms
      • FATED
        • coarse Facies
        • cold staphylococcal Abscesses
        • retained primary Teeth
        • ↑ IgE
        • Dermatological problems
      • recurrent upper respiratory infections
    • Physical exam
      • eczematoid rash similar to atopic dermatitis
        • papulopustular and crusted
        • especially affects the face
        • intensely pruritic
      • skin infections
        • noninflamed abscesses on the body
        • cool to the touch
      • retained primary teeth
        • 2 rows of teeth
      • coarse facies
  • Studies
    • Diagnostic testing
      • studies
        • serum
          • ↑ IgE
          • normal IgA, IgG, and IgM
          • ↑ eosinophils
          • ↓ interferon- γ
  • Differential
    • Atopic dermatitis
      • distinguishing factor
        • may present with superimposed bacterial infection but is not associated with increased upper respiratory infections or retained primary teeth
    • Severe combined immunodeficiency
      • distinguishing factor
        • often presents early in life with failure to thrive and recurrent bacterial, viral, fungal, and protozoal infections
  • Diagnosis
    • STAT3 genetic testing
      • to confirm diagnosis
  • Treatment
    • First-line
      • antibiotics
        • indication
          • treat infections as they arise
      • skin care for eczematoid dermatitis
        • modalities
          • bleach baths
          • topical steroids and tacrolimus
  • Complications
    • ↑ Risk of lymphoma
  • Prognosis
    • Average age of death of 29 years
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