[Immune deficiencies: diagnosis, management, some perspectives]

Area of Science:

• Immunology
• Genetics
• Public Health

Background:

• Severe primary immunodeficiencies (PID) encompass over 100 rare genetic conditions with significant morbidity and mortality.
• Clinical signs include severe/recurrent infections, increased malignancy risk, and autoimmune manifestations, often with delayed diagnosis, especially in adults.
• Advances in molecular biology enable earlier, more precise diagnoses, including prenatal detection.

Purpose of the Study:

• To present the work of a specialized Belgian group focused on PID diagnosis and treatment.
• To establish local guidelines for PID management.
• To develop a national PID register for improved patient care and research.

Main Methods:

• Formation of a Belgian PID expert group since June 1997.
• Development of region-specific diagnostic and treatment guidelines.
• Initiation of a national PID patient register with data anonymity safeguards.

Main Results:

• Progress in molecular diagnostics and treatments, including successful molecular therapy in infants.
• Leveraging existing European PID databases for insights.
• Belgian data integration into European registers is anticipated to drive significant advancements.

Conclusions:

• Timely diagnosis and management are crucial for improving outcomes in primary immunodeficiencies.
• National PID databases and guidelines are essential for advancing patient care.
• Collaborative data sharing, like integrating Belgian data into European registers, holds promise for future therapeutic and diagnostic breakthroughs.