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Updated: Jan 12 2018

IL-12 Receptor Deficiency

  • Snapshot
    • A 4-year-old boy is brought to the emergency department with a fever, rigors, hypotension, and dyspnea following BCG vaccine administration. When an IV was attempted, she began bleeding profusely from the site. A CXR showed interstitial infiltrates, raising suspicion for pneumonitis. Blood specimens show acid-fast bacilli. Culture are pending. Empiric treatment with fluoroquinolones is started.
  • Introduction
    • IL-12 function
      • promotes cell-mediated immunity
        • induces maturation of T cells into Th1 cells
        • stimulates macrophages to secrete interferon (IFN)-γ
        • activates NK cells
    • Mutations in IL-12 receptors resulting in decreased IFN-γ
    • Genetics
      • autosomal recessive
    • Pathogenesis
      • impaired Th1 response
      • impaired secretion of IFN-γ
      • leads to disseminated infections
  • Presentation
    • Symptoms
      • recurrent disseminated infections in early childhood
        • non-TB mycobacteria
        • Salmonella
        • disseminated infection after BCG vaccine
      • note granulomatous infections are well contained
      • often present in sepsis (fevers, rigors, hypotension, etc) and DIC
      • infections can also be limited to organs
        • pneumonitis
        • hepatitis
  • Evaluation
    • Serology
      • IFN-γ
  • Differential Diagnosis
    • IFN-γ receptor deficiencies
    • Hyper IgE syndrome
  • Treatment
    • Antibiotics/antifungals as infections arise
    • IFN-γ therapy may help
  • Prognosis, Prevention, and Complications
    • Prognosis
      • variable prognosis
      • overall mortality rate 30% due to disseminated infections
    • Complications
      • fatal disseminated infections, esp with non-TB Mycobacteria
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