Granulomatous (jedd)

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granuloma is a structure formed during inflammation that is found in many diseases. It is a collection of immune cells known as macrophages. Granulomas form when the immune system attempts to wall off substances it perceives as foreign but is unable to eliminate.

Symptoms:

People with chronic granulomatous disease experience serious bacterial or fungal infection every few years. An infection in the lungs, including pneumonia, is common. People with CGD may develop a serious type of fungal pneumonia after being exposed to dead leaves, mulch or hay.

It's also common for people with CGD to experience infections of the skin, liver, stomach and intestines, brain, and eyes. Signs and symptoms associated with infections include:

  • Fever
  • Chest pain when inhaling or exhaling
  • Swollen and sore lymph glands
  • A persistent runny nose
  • Skin irritation that may include a rash, swelling or redness
  • Swelling and redness in your mouth
  • Gastrointestinal problems that may include vomiting, diarrhea, stomach pain, bloody stool or a painful pocket of pus near the anus

Causes:

A mutation in one of five genes can cause CGD. People with CGD inherit the gene mutation from a parent. The genes normally produce proteins that form an enzyme that helps your immune system work properly. The enzyme is active in white blood cells (phagocytes) that catch and destroy fungi and bacteria to protect you from infections. The enzyme is also active in immune cells that help your body heal.

Diagnosis:

To diagnose CGD, your doctor will review your family and medical history and conduct a physical exam. Your doctor may order several tests to diagnose CGD, including:

  • Neutrophil function tests. Your doctor may conduct a dihydrorhodamine 123 (DHR) test or other tests to see how well a type of white blood cell (neutrophil) in your blood is functioning. Doctors usually use this test to diagnose CGD.
  • Genetic testing. Your doctor may request a genetic test to confirm the presence of a specific genetic mutation that results in chronic granulomatous disease.

Treatment:

Treatment for CGD is aimed at helping you avoid infections and manage your condition. Treatments may include:

  • Interferon-gamma. You may have interferon-gamma injections periodically, which may help boost cells in your immune system to fight infections.
  • Stem cell transplantation. In some cases, a stem cell transplant can provide a cure for CGD. Deciding to treat with stem cell transplantation depends on a number of factors, including prognosis, donor availability and personal preference.
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  • sarah rose
  • Associate Editor 
  • journal of eye disease disorders