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In the case of primary immunodeficiencies, it is very important to “suspect” to make a diagnosis in time

In the case of primary immunodeficiencies, it is very important to “suspect” to make a diagnosis in time

At the Fight Infections Foundation we have a unit specialized in immunocompromised patients, who are those who have a weaker immune system and, therefore, can acquire an infection more easily. This unit offers a specific diagnosis, information to prevent future infectious processes and treatments focused on treating each immunodeficiency.

Dr. Carme Bracke, researcher in the area of infection research in immunocompromised patients at the Fight Infections Foundation and doctor at the Germans Trias Hospital, explains why this unit has proposed carrying out specific training on immunodeficiencies.

What are primary immunodeficiencies?

In fact, now, primary immunodeficiencies have been renamed and are called inborn errors of immunity, because there is a genetic alteration that results in an error in the immune system. These diseases are considered minority.

Could you tell us the differences between primary and secondary immunodeficiencies?

The difference between primary and secondary immunodeficiencies is that in the case of congenital errors of immunity, the condition is genetic and, therefore, one is born with it, although the disease can occur in adulthood. On the other hand, in the case of secondary immunodeficiencies, this error in immunity is caused either by a specific treatment, such as chemotherapy, which weakens or reduces the person’s defenses, or by some disease that person may contract at some point in their life, such as HIV.

When should you suspect that you may be suffering from a primary immunodeficiency?

The impact on a person’s immunity has several faces and, sometimes, it is not easy to detect that they may be suffering from an immunodeficiency. Inborn errors of immunity manifest clinically when there is an imbalance in the immune system itself, either with a lack of response to external aggressions (infections); an exaggerated response to external substances (allergy, hypersensitivity), a lack of response to malignant cells (neoplasms) or an exaggerated response to the body’s own tissues (autoimmunity).

Therefore, inborn errors of immunity should be suspected when there are recurrent infections or more serious infections that even require admission to the ICU, when there are certain types of autoimmune diseases that are related (autoimmune hemolytic anemia, inflammatory bowel disease), with certain types of neoplasms or when there is a tendency to allergy or hypersensitivity phenomena. Obviously, perhaps a single factor is not enough for us to suspect it, but the sum of different factors should force us to think about it and request the relevant examinations to rule it out.

What are the steps that should be followed to obtain a proper diagnosis and treatment?

The diagnosis of primary immunodeficiency can sometimes take many years; we have cases of people who have received it after 40 years! Therefore, we think that the role that primary care physicians play is very important because in cases of mild recurrent infections they are the only specialists who evaluate these patients. On these occasions, a screening should be requested to find out if there could be any congenital error of immunity behind it. Emergency or ICU doctors can also detect whether a patient with a serious infection could be the result of a weak immune system and, in the same way, pulmonologists when they see patients with respiratory sequelae (bronchiectasis) and doctors who are dedicated to treating autoimmune diseases (rheumatologists, hematologists, digestiveologists) should also be able to actively suspect and order the corresponding diagnostic tests.

What treatments are the most common in these cases?

In adults, the most prevalent inborn error of immunity is that which affects the synthesis of antibodies, which results in a lack of immunoglobulins. Therefore, in these patients, replacement treatment with immunoglobulins is started, which means that once a month or a week, the patient must take this treatment, either intravenously or subcutaneously. It is also important to empower the patient, so that they can recognize early when they are having an acute infection, as well as give them good medical accessibility and assess whether they need antibiotic therapy, since if action is taken quickly, complications of infections and admissions can be avoided. hospitable.

What is the objective of the training that proposes “Primary immunodeficiencies/congenital errors of immunity: don’t let them escape you!” What is taking place this March at the Germans Trias Hospital?

What we seek is to offer as much information as possible to health professionals so that they can be suspicious when faced with a person who may “hide” an immunodeficiency; I mean, they can be suspicious when faced with a person who has had many infections, severe atopy, an autoimmune disease, etc., because, ultimately, having an early diagnosis helps reduce hospital admissions and, most importantly, , improves the patient’s quality of life.

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