. DEFECTS OF ADAPTIVE IMMUNITY .

Chronic Granulomatous Disease (CGD) panel [6 genes]

Chronic granulomatous disease (CGD) is a disorder of neutrophils, where impaired NADPH oxidase activity is caused by a defect in one of the five protein subunits of the NADPH oxidase complex, resulting in failure to kill certain bacteria and fungi. The proteins of the NADPH oxidase complex are encoded by genes CYBB, CYBA, NCF1, NCF2, and NCF4. Genetic counselling and specific prognosis are possible after the detection of the disease-causing mutation.

Clinical features

  • Infections, disseminated, recurrent
  • Colitis
  • Onset: infancy to adulthood

Prevalence

  • 1:250,000

Service benefits and management

  • Accurate diagnosis & prognosis
  • Complications management
  • Targeted treatment
  • Hematopoietic stem cell transplantation (HSCT)
  • Prophylactic antibacterials / antifungals
  • Gene therapy

CYBA, CYBB, NCF1, NCF2, NCF4, NOD2

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