A strong immune system for the farm
Immunology(23.01.2017) Little Felix* has had a difficult start in life: Meningitis, skin abscesses and permanently swollen lymph nodes already indicate in the first months of life that the little boy's immune system is not functioning properly. At the Center for Chronic Immunodeficiency (CCI) at the Freiburg University Medical Center, the treating doctors finally found a way to cure the boy.
The reason for the constant infections was discovered by doctors in Felix's home in northern Germany when the boy was eight months old. The cause was a severe immunodeficiency: septic granulomatosis or CGD, an abbreviation of the English term 'Chronic Granulomatous Disease'. CGD is a rare genetic defect in which the function of certain immune cells is impaired. Bacteria and fungi can spread in the body largely unhindered and cause serious infections. The infections can only be combated by taking antibiotics and other medication on a permanent basis. Approximately one in 100,000 newborns is born with this severe disorder of the immune system. There are only 150 known patients in Germany.
The fact that Felix grew up on a farm makes things even more complicated. This is because bacteria and fungal spores are lurking everywhere, to which Felix is exposed without protection and which can become life-threatening for him. After the diagnosis, the doctors advise the parents to give up the farm, as the risk of infection for Felix is too high. However, the farm is the family's livelihood and they cannot simply give it up.
Over the years, the infections are compounded by an increasingly severe inflammatory bowel disease. Months of hospitalization, several times in intensive care, are the result. Regular school attendance is no longer possible.
When Felix is nine years old, he comes to the Center for Chronic Immunodeficiency in Freiburg for the first time. Professor Dr. Stephan Ehl, Medical Director of the CCI, has been looking after him from the very beginning as part of the Pediatric Immunology department. "Felix's quality of life was significantly impaired and the entire family was under considerable strain," says Professor Ehl.
Due to the severity of the infections and the intestinal disease, Professor Ehl's team of experts decided to perform a stem cell transplant a year later. This involves replacing the body's own defective immune system with that of a donor. But here too, Felix's family once again had to endure great uncertainty: "In addition to the fear of complications that a stem cell transplant can bring, the first two suitable third-party donors withdrew their life-saving participation. Only the third joined in," says pediatrician Professor Ehl.
After ten days of preparatory chemotherapy, during which Felix loses his hair, the stem cells are transferred. Five months later, Felix is discharged from hospital. "With the stem cell transplant, the defect in Felix's immune system is corrected and he lives symptom-free," says Professor Ehl.
In the meantime, Felix has already helped with the hay harvest on his parents' farm for the second time, whereas before he was not even able to play in the garden without a care in the world. "It's like a gift of life for the family," says Professor Ehl. Since then, Felix and his mother travel over 600 kilometers twice a year to visit Freiburg, which has become a second home for the family.
* Name changed by the editors
(JF)