Infections cause many of the most common diseases worldwide. Our immune system is specialized in recognizing and fighting infectious agents. Some people may suffer from an increased susceptibility to infections and severe infections due to disorders in their immune system. Early diagnosis and initiation of therapy is therefore vital for the affected patients. However, these mostly congenital genetic disorders of the immune system are still rarely diagnosed and often overlooked. It is estimated that several thousand affected patients live in Germany without a diagnosis of their immunological disorder. The professional diagnosis and therapy of patients with congenital immune defects requires specialized diagnostics, expertise in the interpretation of immunological (related to the immune system) results and experience in the treatment of these diseases. This is only possible in specialized centers or clinics such as the immunodeficiency outpatient clinic. The team at the Immunodeficiency Outpatient Clinic specializes in detecting disorders in the immune system quickly and specifically and, if possible, treating them. This taylor-made immunotherapy can significantly reduce the frequency and severity of infections. Other complications associated with the immune deficiency can also be minimized.

Common symptoms

The most common symptoms suggesting a congenital immune disorder are:

• common (>/= 4 times a year) or long-standing respiratory infections (excluding the common cold)
• common or long-standing diarrhea episodes after excluding other causes
• repeated Herpes zoster/simplex/labialis infections
• severe infections (meningitis/inflammation of the brain, repeated pneumonia, abscesses)
• persistent fungal infections of the skin or mucous membranes
• common or long-standing increased body temperature

Special diagnostics

The diagnosis of a congenital immunodeficiency is based on special diagnostics. More than 200 types of primary immunodeficiency are currently known, the diagnosis of which is very complex. The diagnostic measures is based on three main pillars:

• Anamnesis and directly recognizable symptoms
• Immunological laboratory tests
• Molecular genetic tests

In addition to the main symptoms described above, which indicate an increased susceptibility to infection, there is a number of immunological tests that can only be carried out in specialized laboratories. This way we can examine the number and composition of different types of immune cells and their functional properties. Since the immunodeficiency diseases are based on genetic mutations, a molecular-genetic diagnosis confirmation can be added to the immunological diagnosis. The advantages of a genetic diagnosis include, among other things, better prognostic assessment, the identification of patients who are suitable for a special therapy (e.g. gene therapy, pharmacotherapy) and the possibility of human genetic family counseling.