• Definition: defect in neutrophil chemotaxis
• Etiology
  • Autosomal dominant
  • Defective JAK-STAT signaling → impaired Th17 (Th17 induces neutrophilic infiltration)
    • Th17 deficiency leads to dysregulation of other T-cell subsets
    • STAT3 deficiency allows unopposed Th2 responses
    • Th2 cytokines (IL-4, IL-13) drive IgE class switching in B cells
    • Without Th17-derived cytokines to counterbalance, excessive IgE production occurs
  • ↓ Neutrophil proliferation/chemotaxis
• Clinical features
  • Coarse Facies
  • Recurrent, cold Abscesses, recurrent bacterial (staphylococcal) infections
    • Because neutrophil-induced inflammation is absent
  • Retained primary Teeth
  • Hyper-IgE (Eosinophilia)
  • Dermatologic (severe eczema)
    • Colonization of S aureus and C albicans on the skin triggers mast cell histamine release, causing severe pruritus and an eczematous rash. Patients characteristically have eosinophilia and elevated IgE related to the dermatitis, but other immunoglobulin levels are usually normal.
  • Other features: Decreased bone density increases the risk of bone fractures following minor trauma.
• Diagnosis
  • ↑ IgE
  • (Variable) eosinophilia
  • ↓ IFN γ