Understanding Congenital Immunodeficiencies: Causes, Symptoms, and Management

Understanding Congenital Immunodeficiencies: Causes, Symptoms, and Management

Congenital or primary immune deficiencies are rare and still little known. Unfortunately, the diagnosis is often made very late – in the worst case, with fatal consequences for those affected. Patients with congenital immunodeficiency lack an essential part of the body’s defences: they produce too few or no antibodies. They, therefore, suffer from recurring infections that exceed the average level.

But especially in childhood, colds & Co. are the order of the day, so the limit of what is still considered normal or is already pathological 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 finally made, it is preceded by a long and painful time.

A form of immunodeficiency disease

The immune defect, PID for short (Primary Immune Deficiency), is one of the immune deficiency diseases in which the defence processes do not work effectively enough. In addition to these rare congenital (primary) immune defects, which always exist for life, acquired (secondary) defects can also put the immune system out of action. These include chronic illnesses, HIV infection ( AIDS ), chronic malnutrition or undernourishment or drugs, for example, as immunosuppressive therapies in the context of certain autoimmune or cancer diseases. An intact immune system consists of a large number of building blocks that serve to defend against pathogens. Simply put, Antibodies are formed in the blood, which recognize and destroy viruses, bacteria and other harmful invaders. If there is an immune deficiency, the antibody concentration in the blood is usually too low – the body can no longer cope with the corresponding diseases. As a rule, those affected, therefore, struggle, sometimes from birth, with frequently recurring infections (especially of the respiratory tract), which are also tricky 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 concerned, several clinical pictures are distinguished, which can also show different symptoms. The immunodeficiency itself cannot be cured today, but in the long term, it may be possible to achieve success with the help of genetic engineering. However, various therapies are available to prevent infections and organ damage. Generally, the earlier the congenital or acquired immunodeficiency is treated, the more successful the measures are.


Diagnosis of congenital immunodeficiencies

Precisely because congenital immune defects are rare, they are often recognized too late. The correct diagnosis causes problems in practice because of the many non-specific symptoms and is usually only made after several unsuccessful therapy attempts. However, some signs point to such a disorder. Every doctor should prick up their ears when a child or adult gets the same infection three or four times, and it heals poorly despite antibiotic therapy. If your child shows one or more of the following symptoms, you should urgently take him to a specialist to have PID ruled out.

  • More than two pneumonia per year
  • More than two severe sinus infections a year
  • More than eight new ear infections in one year
  • Bone marrow and meningitis or severe infections
  • Permanent plaque in the mouth after the first year of life
  • Diseases caused by ordinarily harmless bacteria
  • Unclear redness of hands and feet in infants (graft vs. host disease)
  • Recurring deep skin or organ abscesses
  • More than two months of antibiotic therapy without effect or IV antibiotic therapy
  • Primary immunodeficiency in the family
  • Diseases caused by vaccinations in children and adults
  • Low growth, low body weight

Therapy for congenital immunodeficiencies

To correct the lack of antibodies and to prevent the associated infections, those affected must receive antibodies ( immunoglobulins obtained from healthy donors) regularly – and for life in most forms. Depending on the form, bone marrow/stem cell transplants, additional antibiotic therapies for infections and physiotherapy for frequent respiratory infections are also used.

Anyone seeking advice or help can contact the German Self-Help Congenital Immunodeficiency Association. V. (DSAI). The organization is a contact point and competent partner in a network of those affected, specialists, authorities and research teams.


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