Congenital or primary immunodeficiencies are quite rare and still little known. Unfortunately, this is why the diagnosis is often made very late – in the worst case with fatal consequences for those affected. Patients with a congenital immunodeficiency lack an important component of the body’s own defense system: they produce too few antibodies or none at all. As a result, they suffer from recurring infections that significantly exceed normal levels. But especially in childhood, colds and the like are the order of the day, so it is not easy to identify the boundary between what is still considered normal and what is already pathological. Around 100,000 people – mostly children – are estimated to be affected in Germany, and only a fraction of them are diagnosed. And even if the diagnosis is ultimately made, it is preceded by a long and painful period.
A form of immune deficiency disease
Immunodeficiency, or PID (Primary Immune Deficiency), is one of the immune deficiency diseases in which the immune processes do not work effectively enough. In addition to these rare congenital (primary) immunodeficiencies, which are then always lifelong, acquired (secondary) defects can also disable the immune system. These include chronic diseases, HIV infection (AIDS), chronic malnutrition or undernutrition, or drugs, e.g. as immunosuppressive therapies in the context of certain autoimmune or cancer diseases. An intact immune system consists of a variety of building blocks that serve to defend against pathogens. Simplified: Antibodies are formed in the blood that recognize and destroy viruses, bacteria and other harmful invaders. If an immunodeficiency is present, the antibody concentration in the blood is usually too low – the body can no longer cope with the corresponding diseases on its own. As a rule, those affected therefore struggle, sometimes from birth, with frequently recurring infections (especially of the respiratory tract), which are also severe and last a long time. This can result in irreversible damage to the affected organs (e.g. bronchi, lungs). Depending on which part of the immune system is affected, several clinical pictures are distinguished, which can also show different symptoms. The immunodeficiency itself is not yet curable; in the long term, it may be possible to achieve success with the help of genetic engineering. However, at least various therapies are available that prevent infections and organ damage. In general, the earlier the congenital or acquired immunodeficiency is treated, the more successful the measures tend to be.
Diagnosis of congenital immunodeficiencies
Precisely because congenital immunodeficiencies are rare, they are often recognized too late. The correct diagnosis always causes problems in practice precisely because of the large number of nonspecific symptoms and is not infrequently made only after several unsuccessful attempts at therapy. But there are some signs that point to such a disorder. Every doctor should become alert if a child or adult comes down with the same infection three or four times and it heals poorly despite antibiotic therapy.If your child shows one or even more of the following symptoms, you should urgently take him or her to see a specialist to rule out PID.
- More than 2 pneumonias per year.
- More than 2 severe sinus infections per year
- More than 8 new ear infections in a year
- Bone marrow and meningitis or severe infections.
- Permanent coating in the mouth after the age of 1.
- Diseases caused by normally harmless bacteria
- Unexplained redness in infants on the hands and feet (graft vs. host disease).
- Recurrent deep skin or organ abscesses.
- More than 2 months of antibiotic therapy without effect or i.v. antibiotic therapy.
- Primary immunodeficiencies in the family
- Diseases triggered by vaccination in children and adults.
- Low growth, low body weight
Therapy for congenital immunodeficiencies
In most forms, to correct the antibody deficiency and prevent the associated infections, affected individuals must receive antibodies (immunoglobulins obtained from healthy donors) on a regular basis – for the rest of their lives. Depending on the form, bone marrow/stem cell transplants, additional antibiotic therapy for infections and physiotherapy for frequent respiratory infections are also used.Anyone seeking advice or help can contact the Deutsche Selbsthilfe Angeborene Immundefekte e. V. (German Self-Help for Congenital Immunodeficiencies). (DSAI). The organization offers itself as a contact point and competent partner in a network of affected persons, specialists, authorities and research teams.
