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Hyper IgE Syndrome / Job's Syndrome

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Topic updated on 11/25/16 10:46am

Snapshot
  • A 3-year-old boy with a history of multiple infections presents with an intensely itchy rash. His skin is covered with an erythematous, crusty, scaly rash. Excoriations are seen where he scratched his skin. His face has thickened skin (coarse facies) and a wide-set nose. He has several abscesses without any pus formation over his arms. Labs come back with IgE levels of 3000 IU/mL.
Introduction
  • Primary immunodeficiency syndrome from defect in neutrophil chemotaxis
  • Also known as Job syndrome
  • Also known as hyperimmunoglobulinemia E syndrome (HIES)
  • Genetics
    • autosomal dominant
    • STAT3 mutation
  • Pathogenesis
    • defect in JAK-STAT pathway
      • impaired Th17 cells
      • → impaired recruitment of neutrophils
      • → cells inadequately make IFN-γ
  • characterized by FATED
    • coarse Facies
    • cold staphylococcal Abscesses
    • retained primary Teeth
    • ↑ IgE
    • Dermatologic problems
Presentation
  • Symptoms
    • recurrent colds
  • Physical exam
    • eczematous rash similar to atopic dermatitis
      • papulopustular, crusted rash
      • especially affects the face
      • intensely pruritic
    • skin infections
      • noninflamed abscesses on body
      • cool to touch
    • retained primary teeth
      • two rows of teeth
    • coarse facies
Evaluation
  • ↑ IgE
  • ↑ eosinophils
  • ↓ IFN-γ
Differential Diagnosis
  • Atopic dermatitis
  • Wiskott-Aldrich syndrome
  • SCID
Treatment
  • Skin care for eczematoid dermatitis
  • Prophylactic trimethoprim-sulfamethoxazole to prevent infections
  • Antibiotics to treat infections
Prognosis, Prevention, and Complications
  • Prognosis
    • leading cause of death is infection
      • average age of death 29 years
  • Complications
    • risk of lymphoma


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