Inborn Errors of Immunity: how to diagnose them?

Area of Science:

• Immunology
• Genetics
• Clinical Medicine

Background:

• Inborn Errors of Immunity (IEI) present with diverse clinical phenotypes, complicating laboratory investigations.
• Accurate diagnosis of IEI is crucial for effective management and preventing severe health consequences.

Purpose of the Study:

• To provide an updated guide for investigating immunological competence in patients with primary immune defects.
• To emphasize the importance of clinical phenotyping in directing diagnostic workups for IEI.

Main Methods:

• Systematic literature review of articles published in the last five years on PubMed.
• Inclusion of English, French, and Spanish articles using specific search terms related to immunodeficiency diagnosis.
• Consultation of recent textbook editions for comprehensive information.

Main Results:

• Clinical features such as infection patterns, onset age, and associated conditions are key to initiating immune competence investigations.
• Detailed patient history, including family history, aids in selecting appropriate diagnostic tests.
• Genetic testing is often essential for definitive IEI diagnosis but may not always be accessible.

Conclusions:

• Diagnostic strategies for IEI should prioritize clinical characterization to optimize test utilization.
• The lack of a definitive diagnosis should not impede the initiation of life-saving therapeutic interventions.
• A clinical phenotype-driven approach ensures efficient and effective evaluation of suspected inborn errors of immunity.