Congenital immunodeficiencies

Congenital or primary immune deficiencies are quite rare and still little known. Unfortunately, therefore, the diagnosis is often made very late - for the victims in the worst case with fatal consequences. Patients with a congenital immune deficiency lack an important component of the body's defense: they form too little or no antibodies. They therefore suffer from recurring infections that significantly exceed normal levels.

But especially in childhood colds & Co. are commonplace, so that the limit of what is still considered normal or already morbid, is not easy to recognize. 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, a long and painful time ahead.

A form of immunodeficiency disease

The immune deficiency, or PID (Primary Immune Deficiency) is one of the immune deficiency diseases in which the defense processes do not work effectively enough. In addition to these rare congenital (primary), then always life-long immunodeficiencies acquired (secondary) defects can put the immune system out of action. These include chronic diseases, HIV infection (AIDS), chronic malnutrition or malnutrition or drugs such as immunosuppressive therapies in the context of certain autoimmune or cancer diseases. An intact immune system consists of a variety of building blocks, which serve to ward off pathogens. Simplified: In the blood are formed antibodies that detect and destroy viruses, bacteria and other harmful invaders. If there is now an immune deficiency, the blood levels of antibodies in most cases are too low - the body will no longer be able to cope with the corresponding diseases alone. As a rule, those who are struggling, sometimes from birth, with frequently recurring infections (particularly the respiratory tract), which are also difficult and take a long time. This may result in irreversible damage to the affected organ (eg, bronchi, lungs). Depending on which part of the immune system is affected, several clinical pictures are distinguished, which can also show different symptoms. Although the immune deficiency itself is still not curable today, successes could possibly be achieved in the long term with the help of genetic engineering. But at least various therapies are available to prevent infections and prevent organ damage. In general, the sooner the congenital or acquired immune deficiency is treated, the more successful the measures usually are.

Diagnosis of congenital immunodeficiencies

Precisely because congenital immune deficiencies are rare, they are often recognized too late. The correct diagnosis prepares in practice, especially because of the large number of nonspecific symptoms repeatedly problems and is often asked only after several unsuccessful therapeutic trials. But there are a few signs that indicate such a disturbance. Every doctor should be alert if a child or adult suffers from the same infection three or four times, and the condition is poor despite antibiotic therapy. If your child has one or more of the following symptoms, you should urgently consult a specialist for a PID excluded.

  • More than 2 pneumonia per year
  • More than 2 severe sinus infections in the year
  • More than 8 new ear infections in one year
  • Bone marrow and meningitis or severe infections
  • Permanent covering in the mouth after the first year of life
  • Diseases due to normally harmless bacteria
  • Unclear redness in infants on the hands and feet (graft vs. host disease)
  • Recurrent deep skin or organ abscesses
  • More than 2 months antibiotic therapy without effect or iv antibiotic therapy
  • Primary immunodeficiencies in the family
  • Vaccine-induced diseases in children and adults
  • Low growth, low body weight

Therapy for congenital immunodeficiencies

In order to remedy the antibody deficiency and prevent the associated infections, those affected in most forms must regularly receive antibodies (immunoglobulins, which are obtained from healthy donors) - and lifelong. Depending on the form, bone marrow / stem cell transplants, additional antibiotic therapies for infections, and physiotherapy for frequent respiratory infections are also used.

If you are looking for advice or help, you can contact the German self-help Innate Immunodeficiencies e. V. (DSAI). The organization offers itself as a contact point and competent partner in a network of stakeholders, specialists, authorities and research teams.

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