Chronic Granulomatous Disease – What Is It?
Chronic Granulomatous Disease (CGD) is a rare, genetically inherited condition that affects the immune system. It is classified as a primary immunodeficiency and is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, as well as the development of granulomas.
Unfortunately, CGD often leads to death by the age of 20-30 years. The disease can have different courses, depending on the type of genetic mutation that causes it. Symptoms can appear from infancy or develop later in life. These include:
- Recurrent bacterial infections.
- Granulomas forming on the skin, lymph nodes, or internal organs.
Treatment typically involves antibiotics and antifungal medications, as well as stem cell transplantation from bone marrow or cord blood.
Olek’s Story
As a toddler, Olek was frequently ill, and the frequency of his infections caused significant concern for his parents. At 1.5 years old, he developed a large tumor on his neck, which required surgery. After a histopathological examination, doctors diagnosed him with Chronic Granulomatous Disease.
Olek’s condition required transplantation because infections, such as aspergillosis (a fungal infection), could be fatal. His immune system was severely compromised, and any infection posed a serious risk. As his condition worsened, with higher CRP levels indicating inflammation, it became clear that a stem cell transplant was necessary to provide him with new cells capable of fighting infections.
The Search for a Donor
The search for a suitable donor began. Initially, Olek’s brother was tested but was not a match for the Human Leukocyte Antigen (HLA) compatibility required for a transplant. However, during Olek’s birth, his parents had secured cord blood from his brother.
Cord blood requires less genetic compatibility than bone marrow, so it could be successfully used in Olek’s treatment. The parents had learned about cord blood collection from the hematologist treating Olek, and they decided to donate it to safeguard their younger son’s health. Unbeknownst to them at the time, the stem cells from their younger son’s cord blood would save Olek’s life.
Results of Olek’s Treatment
In the case of Chronic Granulomatous Disease, stem cell transplantation aims to replace damaged or malfunctioning immune system cells with healthy ones. Once the healthy stem cells are transplanted, the body begins to produce white blood cells capable of killing bacteria, viruses, and other pathogens. This process reduces the risk of infections and the formation of inflammatory granulomas.
Olek received a standard cord blood transplant, which is fully reimbursed by the National Health Fund. The transplant not only cured his Chronic Granulomatous Disease but also successfully treated his celiac disease, a genetic intolerance to gluten.
Today, Olek is a completely healthy boy and no longer requires any treatment.