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Chronic granulomatous disease

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Chronic granulomatous disease is a genetic disease that is inherited from a person's parents. It is a immunodeficiency disorder that is very rare. It causes people to have immune systems that do not function properly. The person's weak immune system is left vunerable to infection. A person with Chronic granulomatous disease or CGD has chronic bacterial and fungal infection. They will also have chronic inflammation called granulomas that cause discomfort and can lead to infection. Mutations in any one of five genes cause the immune system problems and the disease. There are two types of CGD, X-linked and autosomal recessive. Thy are determined by which gene mutations are inherited and how they are inherited. [1]


Blood tests can be run to confirm the diagnosis of CGD

People with Chronic Granulomatous disease are usually diagnosed before they reach the age of five. They can be diagnosed later in life if they have a milder form of the disease. Those with a milder form of the disease exhibit their symptoms a little later in life or they show less or mild symptoms. Some even go undiagnosed until early adulthood.[2]If a person is showing the signs and symptoms of Chronic Granulomatous disease a doctor would perform tests to confirm the diagnosis. Specialized blood tests such as the nitroblue tetrazolium test can be used to confirm the diagnosis. The nitroblue tetrazolium test is also sometimes paired with flow cytometry with dihydrorhodamine to further confirm the diagnosis. These two tests are run to confirm if the person's immune cells are producing substances that are harmful to the immune system. Chronic Granulomatous Disease is also diagnosed through the genetic testing of five genes. The first four genes autosomal recessive genes, where each parent of the affected individual each carry a copy of a mutated gene and the affected individual inherits both of them. The other is also related to to the immune system and is an X-linked gene.[1]


Symptoms for Chronic Granulomatous disease usually surface in early childhood or during infancy. In milder forms of the disease symptoms surface later in the teen years or are just not noticeable until then. The immune system of people with chronic granulomatous disease does not function properly so they are very susceptible to infections. People affected by this disease can have persistent and frequent fungal and bacterial infections. [1] CGD causes people affected to have granulomas, areas of inflammation, because of their inadequate immune system. The granulomas can form in almost any area of the body, but the most common areas are:

  • stomach
  • colon
  • rectum
  • mouth
  • throat
  • skin

The gastrointestinal tract and the genitourinary tract are usually affected by granulomas. Granulomas in the gastrointestinal tract can lead to abscesses, growths filled with pus, and the breakdown of tissue, which can cause indigestion and interfere with food passing through to the intestines. In addition to this, a person with CGD has a compromised immune system that doesn't properly fight off bacterial and fungal infections. Bacterial and fungal infections usually occur about every three years in a individual with CGD. Each time a person has an infection their lifespan decreases. GCD can also cause inflammation of bone marrow(osteomyelitis). [3] Chronic Granulomatous disease can also cause a person to have severe skin infections that can be difficult to treat. This includes:

  • Sores or Blisters on the face
  • abscesses
  • Eczema
  • Boils

GCD also can cause swollen lymph nodes, liver problems and persistent diarrhea,[4]but the most common site of infection is actually the lungs. People with Chronic granulomatous disease commonly develop a fungal pneumonia in their lungs cause by a fungus called mulch pneumonitis. Exposure to organic materials can cause people with Chronic granulomatous disease to develop fungal infects in their lungs.[3]


Autosomal recessive inheritance of CGD

The cause for Chronic Granulomatous disease is mutation in the CYBA, CYBB, NCF1, NCF2, or NCF4 genes. Depending on the gene that is mutated a person has a different form of the condition. All five genes are involved in the production of proteins that play a role in the immune system. The proteins that the five genes produce make up a complex enzyme called NADPH oxidase. The enzyme is active in phagocytes, which are immune system cells that destroy foreign invaders in the body like bacteria and fungus. NADPH oxidase helps the phagocytes produce a toxic substance that generates other toxic substances that help the phagocytes destroy foreign invaders in the body. NADPH oxidase also aids in regulating the activity of neutrophils, a type of white blood cell. Because the genes that are mutated cannot properly produce the proteins that form NADPH oxidase it cannot be assembled and the person is left with a weak immune system and vulnerable to infection. This also causes excessive inflammation.[3]

The mutated genes that cause CGD are inherited genes from a person’s parents. There are actually two types of GSD and they are based on how a person has inherited the disease.They are called X-linked CGD and autosomal recessive CGD. Both types of the disease has practically the same symptoms. However, people with the X-linked type of CGD usually have more severe symptoms.[5]When the genes that are inherited are the CYBA, NCF1, NCF2, or NCF4 genes, the disease is autosomal recessive CGD. If the mutated gene that was inherited was the CYBB gene it is X-linked CGD. The parents of someone with autosomal recessive CGD usually each have a copy of the mutated gene. They are carriers, which are people that have a copy of the mutated gene(s), but typically do not show symptoms. When two people who are carriers have children there is a 50% chance that their child will be carriers, a 25% chance to not be a carrier or have the disease and a 25% chance that their child will have the disease. A person with X-linked CGD gets it from the X chromosome sex cell. For a male to have X-linked CGD only one mutated copy of the mutated gene is needed because males only have one X chromosome. Females are less likely to have X-linked CGD because they have two X chromosomes and the probability of having two mutated CYBB genes is slim.[1]


Interferon Gamma (IFN) can be given to people with CGD to help the body produce the proteins that the mutated genes fail to produce

Chronic Granulomatous disease can be treated. There are medicines and treatments to increase the lifespan of those with CGD. All people with CGD are given anti-fungal medicines and antibiotics for the prevention of bacterial and fungal infections. The risk of getting infections is significantly lowered when antifungal medicines and antibiotics are taken. For granulomas and inflammation on the skin ointment, creams and medicines are given to calm the inflammation. Some people with CGD need to be given medicines that suppress their immune system because of the prolific amount of granulomas that they experience. These drug are called '5-ASA' drugs and they usually end in -salazine. A drug that is used to treat severe skin infections caused by CGD is called sotretinoin. It can have serious side effects so it requires serious monitoring of the patient. [6]People with CGD may need to stay on infection medicines longer on average and the dosage of infection medication is usually higher. When a patient has an infection a doctor should immediately put the person on antibiotics because the infection can easily develop into more serious conditions. Interferon Gamma (IFN) can be given to people with CGD to help the body produce the proteins that the mutated genes fail to produce. It is given to the person by injection three times a week, but it is a very expensive treatment. People with GCD can also have transfusions to help them produce wheat they need. Healthy white Blood cells are given to a patient to help them fight infects. Some people have allergic reactions to white blood cell transfusions and cannot have them. Bone marrow transplants also can help people with CGD. Transplanting bone marrow helps them create healthy white bloods for them to fight infections. [7]


The prognosis, the long term situation of a person affected with a disease, of an individual with Chronic Granulomatous disease depends on the situation of each specific individual. The severity of the disease and the severity of their symptoms greatly affect how the individuals life with be affected in the long term. Infections that occur regularly and the frequent occurrence of inflammation episode can decrease the lifespan of the individual affected with Chronic Granulomatous disease. Nevertheless, advances have been made that allow those living with Chronic Granulomatous disease to have a better quality of life and an increased survival rate.Today, the average age of death for an individual with Chronic Granulomatous disease is 40 years. This is due to the many therapies and treatments that have been developed for Chronic Granulomatous disease. Prophylactic therapies have played a large part in the increase of the lifespan of individuals with GCD. [1]


Immune System Diseases


  1. 1.0 1.1 1.2 1.3 1.4 Chronic granulomatous disease Genetic and Rare Diseases Information Center (GARD). Web. last accessed November 26, 2018. Author Unknown
  2. Common signs and symptoms of chronic granulomatous disease (CGD) Horizon Pharma USA. Web. accessed November 26, 2018. Author Unknown
  3. 3.0 3.1 3.2 Chronic granulomatous disease U.S. Department of Health & Human Services. Web. last accessed December 8, 2018. Author Unknown
  4. Chronic granulomatous disease medlineplus. Web. last updated December 3, 2018. Author unknown
  5. What is CGD? The Chronic Granulomatous Disorder Society. Web.last accessed December 8, 2018. Author Unknown
  6. Medicines in CGD The Chronic Granulomatous Disorder Society. Web. last accessed December 8, 2018. Author Unknown
  7. Treatment The Chronic Granulomatous Disorder Society. Web.last accessed December 8, 2018. Author Unknown