Inborn errors of immunity account for 47% of FMABC Immunology consultations

Conditions are caused by genetic faults and increase the risk of infections

During the last week of April, awareness is raised regarding inborn errors of immunity, also known as primary immunodeficiencies. These are diseases that cause damage to the development or functioning of the immune system. In Greater ABC, 47% of patients treated by the Clinical Immunology service at Centro Universitário FMABC, in Santo André, have a confirmed diagnosis of inborn errors.

The outpatient clinic is considered a reference in the region for treating immune system problems. According to a recently released study, the highest occurrences recorded by the service are cases of hereditary angioedema (HAE), which affects around 16% of clinical immunology patients.

It is estimated that there are approximately 485 registered immunological defects, which can cause, for example, the body’s ability to avoid and recover from infections to be greatly reduced. The condition is caused by genetic errors, which according to data from health organizations affect one in every 1,200 individuals.

According to Dr. Anete Grumach, allergist, immunologist and professor at Centro Universitário FMABC, it is important to show the population what these genetic defects can cause, to prevent diseases from reaching more serious states. “Individuals who have frequent infections may even be hospitalized. Some more serious conditions can be cured when diagnosed in time,” she explains.

The doctor also says that there are some signs to watch out for regarding immunodeficiencies. “Uncommon, recurrent or treatment-resistant infections, severe allergies, autoimmune diseases and even neoplasms (tumors) are often warning points for inborn errors.” She also cites early-onset chronic diarrhea, failure to thrive and recurrent fevers as possible points of attention.

The specialist explains that studies to understand the proportion of each disease are important to combat cases. “It is necessary to check the number of cases and increase awareness about inborn errors, if possible from primary care. The care profile shows that many cases are not diagnosed early due to lack of suspicion,” she explains.