Primary immunodeficiency, or PPE, is a change in immune system components, making the person more vulnerable to multiple diseases because the immune system is not functioning properly.The main sign of PPE is the onset of recurrent bacterial infections, mainly sinusitis, otitis and pneumonia.
Primary immunodeficiency is a genetic and congenital disease and is more common in the case of blood marriage, which is marriage between people in the same family, and diagnosis is generally not made shortly after birth because of the disrecognise of these diseases.Early diagnosis is essential to ensure a child’s well-being and quality of life, as well as to avoid serious complications that can lead to death, for example.
- Symptoms of primary immunodeficiency usually appear in the first few months of life.
- However.
- In some cases.
- Symptoms may not appear until adulthood.
- As this depends on the type and severity of the mutation.
- These symptoms can be seen anywhere in the body.
- With symptoms mainly related to the respiratory system.
Because symptoms of primary immunodeficiency can be confused with respiratory and infectious diseases in children, it’s important to know certain symptoms, such as:
In addition, if the family has a history of primary immunodeficiency or if the child is the daughter of a blood partner, primary immunodeficiency is more likely.
It is important that parents are aware of the child’s symptoms and the onset of recurrent infections so that the diagnosis is made and treatment is started as soon as possible to avoid serious complications, such as severe respiratory failure and sepsis, which can be fatal.Recognizes the symptoms of sepsis.
Diagnosis of primary immunodeficiency can be performed at the same time as the heel puncture test shortly after the baby is born and is performed with the same blood sample that was taken for the heel puncture test.From this blood sample, DNA is extracted and amplified to ensure that immune system cells develop properly and, if changes are identified, the mutation responsible for the change in the immune system is sought.Understand how the immune system works.
It is important that the diagnosis of primary immunodeficiency is made up to the first year of life so that it is possible to advise the family on the treatment and care needed to maintain the well-being of the child and avoid complications, although this is a basic test, the primary immunodeficiency diagnostic test is not available through the unified health system , only in private clinics and has an average cost of R$100.00.
Treatment of primary immunodeficiency should be done on the advice of the pediatrician and varies depending on the symptoms, severity, and stage of identification of the child.
When PPE is immediately identified or symptoms occur are mild, the pediatrician may recommend immunoglobulin treatment, in which missing antibodies are administered in the body, thus improving immune system activity; However, in the case of severe IPO, which may be due to further diagnosis or the presence of mutations that further compromise immunity, a bone marrow transplant may be necessary.See how bone marrow transplantation is going.
In addition, antibiotics may be recommended directly into the vein to fight recurrent infections.