¿Inborn errors of immunity (IBD) (Primary Immunodeficiencies)?

«The congenital errors of immunity (IBD) (Primary Immunodeficiencies) They are a heterogeneous group of disorders in which the development and/or function of the immune system is altered. They result from errors in genes that functionally impact our innate or adaptive immune system. Because these disorders are genetically determined, they are expected to be childhood-onset diseases and diagnosed before adulthood. However, many patients are only diagnosed at an older age. How can this happen?

Let's think of the immune system as a home's security system. This security system has several parts: some are like the doors and their locks (like innate immunity), which are always there from the beginning, protecting the house against general invaders. Other parts are like security alarms, which we change and adapt to specific types of invaders, to protect the house better and better (like adaptive immunity).

Why are some IBDs only recognized after childhood?

Now, let's imagine that there are some manufacturing defects in these security systems that were already there when the house was built; They are like inborn errors of immunity. These failures can affect any part of the security system, causing it to not function perfectly.

Some of these flaws are evident from the beginning; For example, if a door is missing, a camera is missing, or a lock doesn't work, you'll be able to notice it right away. This would be similar to Inborn Immunity Errors that are recognized in childhood, because the problems caused by these defects are evident from an early age.

On the other hand, some flaws in the security system may not be immediately apparent. For example, maybe there is a motion sensor that only malfunctions under certain conditions, maybe only at certain temperatures, or maybe it only malfunctions when two specific types of motion occur at the same time. These rare conditions mean that the fault can remain hidden for years until the right combination of circumstances reveals the problem.

This is similar to inborn errors of immunity that are only recognized in adulthood. The “flaws” in the genes that protect the home (i.e. the body) They may not cause visible problems until something in particular, such as a new environment, a certain type of infection, or even age-related changes, challenges the immune system.

Thus, infections (mainly viral), medications and even environmental factors can behave as triggers of a genetically determined condition such as an Innate Immunity Error. And just as you may not notice a flaw in your home security system until something goes wrong, the same can happen to the body's immune system.

How do you make the diagnostic?

Additionally, just as different professionals are needed to diagnose complex problems in a security system (electricians, security systems engineers, etc.), in real life; Patients with undiagnosed inborn errors of immunity often consult several medical specialists before discovering the true cause of their problems, due to the complexity and variation of symptoms.

Finally, with the advancement of technology, such as more advanced security cameras that help diagnose blind spots (equivalent to the use of more specific biomarkers, functional tests and genetic sequencing in medicine), we are getting better at identifying these previously overlooked gaps. . hidden, allowing for more effective treatments even when the diagnosis occurs later in life."

Bibliography

Original article: Innate errors of immunity that are only recognized after childhood?

Dr. Javier Ricardo Carbajal Lizárraga. Specialist in Allergy and Immunology. Children and adults.

Eqr 21798. CRM/SP 92607. Allergist and Immunologist from USP and the Brazilian Society of Allergy and Immunology. Member of the Brazilian Society of Allergy and Immunology ASBAI; American Academy of Allergy; Member of Asthma and Immunology AAAAI; Member of the Society of Clinical Immunology CIS; Member of the European Academy of Allergy and Clinical Immunology (EAACI); Member of the European Society of Immunodeficiencies and member of the Latin American Society of Immunodeficiencies (LASID).

Below we leave you the link to the website of the Allergy and Immunology Clinic of Dr Carbajal, as well as his social networks: @clinicadeimunologia on Instagram and his Link to facebook

We also leave you the direct link to Our blog where you can find more information about neurodevelopmental pathologies, and a complete category with articles on the immune system.

And remember, at Enevia we think that no person should be diagnosed with autism without first having ruled out organic problems.

Warning

This article has been translated into Spanish and republished on this blog with the permission of the author, Dr Javier Carbajal. The objective of this translation is to inform the Spanish-speaking community about primary immunodeficiencies (IBD) and their diagnosis.

Links to the original articles and social networks of Dr. Javier Carbajal's clinic have been included to facilitate access to additional information in the original language.