Chronic granulomatous disease is a rare genetic disorder that affects your body’s ability to fight off disease or infection. Certain white blood cells, called phagocytes, are cells that help the body fight off infections and kill fungi and bacteria. A person with this inherited disease has phagocytes that are not working at all or not working properly in the body. Because of the body’s reduced ability to fight off an infection, it is important to seek advice from a healthcare professional since any type of infection may quickly become life-threatening.
Chronic granulomatous disease may be indicated if a person has frequent infections or has an unusually difficult time fighting off any type of infection. Symptoms often become evident in childhood years, but for some people, symptoms don’t present until later in life. For many people, acquiring a serious bacterial or fungal infection every three to four years may indicate that the disease is present. The lungs are the most frequently targeted organ to become infected in someone with chronic granulomatous disease. The following are signs and symptoms to look for that may cause concern for chronic granulomatous disease:
The cause of chronic granulomatous disease comes from a gene mutation. In the body, certain protective proteins form enzymes that help the immune system fight off infections. These proteins also help the body heal or repair itself. The gene mutation causes these proteins either from being produced or from functioning properly. While the exact cause remains unclear, boys are at a higher risk of having chronic granulomatous disease than girls. Having a family history of this disease also puts you at an increased risk of having the disease.
Autoimmune Lymphoproliferative Syndrome (ALPS)
Caspase Eight Deficiency State (CEDS)
CARD9 Deficiency And Other Syndromes Of Susceptibility To Candidiasis
Common Variable Immunodeficiency (CVID)
Congenital Neutropenia Syndromes
Hyper-Immunoglobulin E Syndromes
Hyper-Immunoglobulin M Syndromes
Interferon Gamma, Interleukin 12 And Interleukin 23 Deficiencies
Leukocyte Adhesion Deficiency (LAD)
PLCG2-Associated Antibody Deficiency And Immune Dysregulation (PLAID)
Severe Combined Immunodeficiency (SCID)
STAT3 Dominant Negative Disease (STAT3DN)
STAT3 Gain-Of-Function Disease (STAT3 GOF)
Warts, Hypogammaglobulinemia, Infections, And Myelokathexis (WHIM) Syndrome
Wiskott-Aldrich Syndrome (WAS)
X-Linked Agammaglobulinemia (XLA)
X-Linked Lymphoproliferative Disease (XLP)
Immunodeficiency Disease Medications
Chronic granulomatous disease is diagnosed by blood work and through genetic testing. Your healthcare provider will review your family medical history and complete a physical exam as part of the diagnostic exams. Blood work includes checking for how certain immune cells are functioning in the body. Prenatal testing may also be done if anyone else in your family already has been diagnosed with the disease.
Preventing and managing infections is the key to helping a person diagnosed with chronic granulomatous disease. There are several ways a healthcare provider may treat this disease.
These medications are usually prescribed as a first-line defence to either prevent or help fight off infections. Depending on the severity of the disease, a person may be on lifelong antibiotics or medication such as corticosteroids to try and boost the immune system.
This type of protein injection gives immune fighting cells a boost and limits inflammation in the body to help the frequency and severity of infections.
This is currently the only proven cure for a chronic granulomatous disease, but even this treatment may not work every time. In this treatment, the person with the diagnosis receives healthy immune cells from a donor person. There are a number of risks involved in this treatment method, so your healthcare provider will help you decide if this may be an appropriate option for you.
Research for gene therapy and other treatment options for chronic granulomatous disease are ongoing. But more studies and results are still being investigated.