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Spotlight On
Chronic Granulomatous Disease (CGD)
A rare, inherited immunodeficiency that affects certain white blood cells that leads to the formation of granulomas in many organs
Prevalence
1-9 / 1 000 000
Age of Onset
ICD-10
D71.1
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
A rare, inherited immunodeficiency that affects certain white blood cells that leads to the formation of granulomas in many organs
FACT
It is usually inherited in an autosomal recessive or X-linked recessive manner
FACT
Most people with CGD are diagnosed in childhood, usually before age 5
FACT
The most important MOA is the impact on the superoxide radical due to defective phagocyte NADPH oxidase
FACT
The only cure for the disease is an allogeneic hematopoietic stem cell transplantation
Interest over time
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Common signs & symptoms
Abnormality of neutrophils
Chronic pulmonary obstruction
Cutaneous photosensitivity
Fever
Hepatomegaly
Hypermelanotic macule
Malabsorption
Mediastinal lymphadenopathy
Otitis media
Pyloric stenosis
Current treatments
Chronic granulomatous disease is usually managed with antibiotic and antifungal medications to treat and prevent infection. Corticosteriods may be used to shrink granulomas (areas of inflamed tissue). Treatment may also include a medication called Actimmune (also known as interferon gamma-1b). Actimmune is a man-made version of a substance normally produced by the body's immune cells and has been shown to decrease the frequency of severe infections in people with chronic granulomatous disease.
Interferon gamma-1b(Brand name: Actimmune®) Manufactured by InterMune , Inc.
FDA-approved indication: Treatment of chronic granulomatous disease.
National Library of Medicine Drug Information Portal