D81.5: Purine nucleoside phosphorylase [PNP] deficiency

You have a congenital immune deficiency which involves a deficiency of certain immune cells.

The immune system protects the body from pathogens and foreign substances. The immune system can also destroy cells in the body that have pathologically changed. The body's immune system is made up of different types of immune cells. Some immune cells can destroy pathogens or foreign bodies themselves. Other immune cells produce certain antibodies.

You do not have an enzyme that is important in eliminating waste substances in the cells. When this enzyme is not present, certain waste substances accumulate in the cells. This particularly harms maturing immune cells. As a result, there will not be enough of these immune cells.

If you do not have enough antibodies, you will be unable to properly combat pathogens. This also relates to pathogens that are actually harmless to healthy people. Pathogens are bacteria, viruses and fungi, for example. When someone has a congenital immune deficiency, pathogens typically cause severe illnesses during the early years of one's life. These may include repeated lung inflammations or severe diarrhea, for example. Repeated bouts of illness can severely weaken the body. As a result, babies and small children may grow more slowly and put on less weight than normal.

The nervous system may also be impaired. The nervous system includes all the nerves in the body, as well as the brain and the spinal cord. The nerves run from the brain and spinal cord into the body. They convey information in the body. Many nerves run from the spinal cord and brain to the organs, skin and muscles in the body. If the nervous system is impaired, muscles may tense too much or too little. You may also have problems with standing and walking.

With this condition, the immune system may also target the body's own tissue or cells. The symptoms can vary a lot, depending on which tissues or cells are affected.

The disease is congenital, which means you were born with it. Other family members may also be affected.