Chronic Granulomatous Disease (CGD)


General Epidemiology

  • Prevalence: rare (occurs 1 in 200k live births)
  • Sex: affects mostly males (as most mutations are X-linked)
  • Age of Presentation: most cases present in pediatric population
    • Approximately 76% of Cases are Diagnosed Before Age 5
    • Approximately 10% of Cases are Diagnosed in Second Decade of Life (Teens)
    • However, the Clinical Presentation Can Vary Considerably and the Age of First Severe Infection May Occur in Adulthood
    • Age of Onset Varies with Genetics: for unclear reasons, autosomal recessive variants have later age of onset than X-linked variants

Disease Associations

  • In Contrast to Many Other Immunodeficiency States, Chronic Granulomatous Disease is Not Believed to Be Associated with an Increased Risk of Neoplasia

Genetics and Etiology

X-Linked Recessive

Autosomal Recessive

General Comments


Defective NADPH Oxidase in Neutrophil and Mononuclear Phagocytes


Nitroblue Tetrazolium Test (NBT)

Dihydrorhodamine Test (see Dihydrorhodamine Test)

Immunoblot (Western Blot) of Neutrophil Proteins

Gene Sequencing

Clinical Manifestations

Dental Manifestations

Dermatologic Manifestations

Gastrointestinal/Hepatic Manifestations

Neurologic Manifestations

Otolaryngologic Manifestations

Pulmonary Manifestations

Other Manifestations



Chronic Antimicrobial Prophylaxis

Subcutaneous Interferon-γ-1b (Actimmune) (see Interferon Gamma-1b)

Systemic Corticosteroids (see Corticosteroids)

Allogeneic Hematopoietic Stem Cell Transplant (SCT) (see Hematopoietic Stem Cell Transplant)

Gene Therapy