Question 1

What is chronic granulomatous disease (CGD)?

Accepted Answer

Chronic granulomatous disease (CGD) is a rare inherited immune disorder where white blood cells cannot effectively kill certain bacteria and fungi. This leads to recurrent infections and granuloma formation, particularly in the lungs, skin, lymph nodes, and gastrointestinal tract.

Question 2

What causes chronic granulomatous disease?

Accepted Answer

CGD is caused by inherited mutations in genes that encode subunits of the NADPH oxidase enzyme complex (such as CYBB, CYBA, NCF1–4). These mutations impair the oxidative burst needed for phagocytes to kill pathogens. Inheritance may be X?linked or autosomal recessive.
Source: MedlinePlus Genetics

Question 3

How is chronic granulomatous disease diagnosed?

Accepted Answer

Diagnosis involves measuring neutrophil oxidative burst activity using tests like the dihydrorhodamine (DHR) flow cytometry assay or the nitroblue tetrazolium (NBT) test. Genetic testing may be used to identify specific gene mutations.
Source: NCBI Bookshelf (StatPearls)

Question 4

What are the symptoms of chronic granulomatous disease?

Accepted Answer

Symptoms include recurrent bacterial and fungal infections-especially in the lungs, skin, lymph nodes, liver, and GI tract-poor wound healing, abscess formation, and inflammation from granulomas.
Source: Mayo Clinic

Question 5

How is chronic granulomatous disease treated?

Accepted Answer

Treatment may include lifelong prophylactic antibiotics and antifungals, interferon gamma therapy to boost immunity, and sometimes bone marrow transplantation, which may offer a potential cure in select cases.

Question 6

What is the life expectancy for someone with CGD?

Accepted Answer

Life expectancy varies depending on the severity of infections and access to medical care. With early diagnosis and proper treatment, many individuals live into adulthood and beyond.

Question 7

Is chronic granulomatous disease an autoimmune condition?

Accepted Answer

No, CGD is a primary immunodeficiency, not an autoimmune disorder. It results from a defective immune response rather than an overactive or misdirected one.

Question 8

How is chronic granulomatous disease inherited?

Accepted Answer

Most CGD cases are inherited in an X-linked pattern, meaning males are more commonly affected. Autosomal recessive inheritance also occurs, affecting both sexes when two copies of the mutated gene are inherited.

Question 9

Can chronic granulomatous disease affect the lungs?

Accepted Answer

Yes, lung infections and granulomas are common in CGD. These may lead to pneumonia, abscesses, or inflammation that can affect breathing and lung function.

Question 10

Can chronic granulomatous disease be cured?

Accepted Answer

While there's no universal cure, some individuals may be cured with a bone marrow or stem cell transplant. Most people with CGD manage the condition long-term with medical therapy and regular monitoring.

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