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General Practice 2023

Immunodeficiencyênciaprimaryária: what é, symptoms and treatment

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Immunodeficiencyênciaprimaryária: what é, symptoms and treatment
Immunodeficiencyênciaprimaryária: what é, symptoms and treatment

Primary immunodeficiency, or PID, is a situation in which there are changes in components of the immune system, which makes the person more susceptible to various diseases, since the immune system does not function properly. The main sign indicative of PID is the occurrence of recurrent bacterial infections, mainly sinusitis, otitis and pneumonia.

Primary immunodeficiency is a genetic and congenital disease, being more common in case of consanguineous marriage, which is marriage between people of the same family, and usually the diagnosis is not made soon after birth due to lack of knowledge about this illness. However, early diagnosis is essential to ensure well-being and quality of life for the child, in addition to avoiding serious complications that can result in death, for example.

Main symptoms

Symptoms of primary immunodeficiency usually appear in the first few months of life, however, in some cases, symptoms may only appear in adulthood, as it depends on the type and severity of the genetic alteration.

Symptoms can be noticed in any part of the body, as it can affect any organ or system, however, symptoms related to the respiratory system are mainly noticed, which can cause primary immunodeficiency to be confused with diseases childhood respiratory and infectious diseases.

Thus, for primary immunodeficiency to be taken into account at the time of diagnosis, it is important to be aware of some signs and symptoms, such as:

  • 4 or more ear infections in less than 1 year;
  • 2 or more respiratory tract infections in less than 1 year;
  • Use of antibiotics for more than 2 months with no effect;
  • More than two cases of pneumonia in less than 1 year;
  • Delay in child development;
  • Repeated intestinal infections;
  • Emergence of complications from vaccines;
  • Frequent appearance of skin abscesses.

In addition, if the family has a history of primary immunodeficiency or the child is the daughter of a consanguineous couple, there is a greater chance of having primary immunodeficiency.

It is important that parents are aware of the symptoms presented by the child and the occurrence of recurrent infections so that the diagnosis is made and treatment started as soon as possible to avoid serious complications, such as severe respiratory compromise and septicemia, which can be fatal.

How is the diagnosis

The diagnosis can be made through blood tests and specific genetic tests, since there are more than 100 types of primary immunodeficiencies.

It is important that the diagnosis of primary immunodeficiencies be made within the first year of life so that it is possible to advise the family on the treatment and care necessary to maintain the child's well-being and avoid complications. Despite being a fundamental test, the primary immunodeficiency diagnostic test is not available by the Unified He alth System, only in private clinics.

Treatment of primary immunodeficiency

Treatment of primary immunodeficiency should be performed according to the pediatrician's guidance and varies according to the symptoms presented by the child, severity and stage of identification.

When PID is identified early or the symptoms are mild, the pediatrician may recommend immunoglobulin therapy, in which antibodies that are lacking in the body are administered, improving the activity of the immune system. In addition, administration of antibiotics directly into the vein may be recommended to fight recurrent infections.

However, when it comes to severe PID, which may be due to late diagnosis or the presence of mutations that further compromise immunity, bone marrow transplantation may be necessary. See how bone marrow transplantation is performed.

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