DISEASE SCANNER

Global Incurable Diseases Tracker

Back to Globe
Genetic Disorder

Chronic Granulomatous Disease (CGD)

HIGH SEVERITY

A group of inherited immunodeficiencies affecting phagocytic cells' ability to kill intracellular pathogens due to NADPH oxidase defects. X-linked (CYBB) most common; autosomal recessive forms (CYBA, NCF1, NCF2, NCF4) also occur.

Global Affected

30.0K

Countries

15

Symptoms

Recurrent severe infections
Granuloma formation
Lymphadenopathy
Hepatosplenomegaly
Pneumonia
Abscesses
Osteomyelitis
Colitis

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Improved with modern prophylaxis. 90% survive to age 20. X-linked form more severe. Inflammatory complications common. Transplant curative for severe forms. Life expectancy improving toward normal.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

Prophylactic antibiotics (trimethoprim-sulfamethoxazole) and antifungals (itraconazole). Interferon-gamma. Hematopoietic stem cell transplant curative. Gene therapy trials ongoing. Good outcomes with modern management.

Affected Countries

AustraliaBelgiumBrazilCanadaSwitzerlandGermanySpainFranceUnited KingdomItalyJapanMexicoNigeriaUnited StatesSouth Africa

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.