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[Chronic granulomatous disease: pathogenesis and therapy of associated fungal infections]

Anne Desjardins1, Hélène Coignard-Biehler, Nizar Mahlaoui

  • 1Service de maladies infectieuses et tropicales, Hôpital Necker Enfants-malades, Paris, France.

Medecine Sciences : M/S
|November 23, 2012
PubMed

Insights

Chronic granulomatous disease (CGD) impairs immune cells, increasing infection risk, especially from fungi like Aspergillus. This review covers CGD

Area of Science:

  • Immunology
  • Genetics
  • Mycology

Background:

  • Chronic granulomatous disease (CGD) is a primary immunodeficiency.
  • It results from defects in the NADPH oxidase enzyme complex in phagocytes.
  • This defect impairs the oxidative burst, crucial for killing ingested microbes.

Purpose of the Study:

  • To review the genetic basis of CGD.
  • To describe the pathogenesis and clinical manifestations of fungal infections in CGD patients.
  • To discuss current and emerging therapeutic strategies for fungal infections in CGD.

Main Methods:

  • Literature review of genetic disorders, immunology, and mycology.
  • Analysis of pathogenesis and clinical presentations of fungal infections in CGD.
  • Synthesis of information on prophylaxis and novel therapies.

Main Results:

  • CGD leads to susceptibility to a range of fungal pathogens, including Aspergillus species and emerging fungi.
  • Understanding the genetic defect is key to recognizing infection risks.
  • Clinical presentations vary based on the causative fungal species and immune status.

Conclusions:

  • Fungal infections pose a significant threat to individuals with CGD.
  • Comprehensive management requires understanding genetic underpinnings and tailored antifungal prophylaxis and treatment.
  • Advances in therapy offer improved outcomes for managing these severe infections.

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