Failure of immunological competence: when to suspect?

Area of Science:

• Immunology
• Clinical Medicine
• Genetics

Background:

• Inborn errors of immunity (IEI) often present with severe or recurrent infections due to immunological incompetence.
• Non-infectious manifestations like autoimmunity, inflammation, allergies, and malignancy can also indicate IEI.
• Early and accurate diagnosis of IEI is critical for managing patient outcomes.

Purpose of the Study:

• To alert physicians to diverse warning signs of inborn errors of immunity.
• To emphasize the importance of considering IEI in patients with non-infectious presentations.
• To facilitate earlier diagnosis and improved patient care for IEI.

Main Methods:

• A non-systematic literature review was conducted using PubMed, LILACS, and SciELO databases.
• Consultation of relevant reference textbooks was also performed.
• A list of warning signs for IEI was compiled based on the literature.

Main Results:

• Key warning signs for IEI include recurrent infections requiring prolonged antibiotics, failure to thrive, and a positive family history.
• Non-infectious signs such as early onset, treatment resistance, atypical presentations, or co-occurring symptoms warrant IEI investigation.
• The study identified specific indicators for both infectious and non-infectious manifestations of IEI.

Conclusions:

• Physicians should consider IEI in patients presenting with non-infectious symptoms, not solely infections.
• Raising awareness among non-specialists about IEI warning signs is vital for early detection.
• Timely diagnosis of IEI is essential to reduce morbidity and mortality in affected individuals.