D82.4: Hyperimmunoglobulin E [IgE] syndrome

You have a congenital immune system condition which means you do not have enough protection against certain pathogens.

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.

The illness is caused by genetic changes. As a result of these changes, the immune system is unable to provide enough protection against certain pathogens. The genes hold a complete blueprint of the body's structure. When development beings, this blueprint exists in every single cell in the body. With certain conditions, specific genetic elements are changed. These changes may be inherited from the parents or they may be new. Other family members may also be affected.

If the immune system is unable to provide enough protection against certain pathogens, inflammations may occur in the body. Then, typically, pus-filled cavities form in the skin, joints and lungs. Other tissues and organs can also be affected. The affected areas may be sore, turn red and be warm. But these indications of inflammation may also be absent.

With this condition, repeated lung inflammations are also possible. Pneumonia can cause various symptoms. These include shortness of breath, coughing and a high temperature. When the lung inflammation clears up, changes may remain in the affected lung tissue. For example, large, air-filled cavities may form in the lungs.

With this condition, the bones may also be unusually brittle. This can result in broken bones. You may also get a skin rash. This usually starts on the face and it might be itchy. The symptoms usually appear during the first months of the baby's life.