The European internet-based patient and research database for primary immunodeficiencies: update 2011.

Area of Science:

• Immunology
• Genetics
• Epidemiology

Background:

• Primary immunodeficiencies (PID) represent a group of rare genetic disorders affecting the immune system.
• Estimating the disease burden and understanding the epidemiology of PID in Europe is crucial for improving patient care and developing new strategies.
• The European Society for Immunodeficiencies (ESID) established an internet-based database to consolidate clinical and research data on PID patients.

Purpose of the Study:

• To build a common data pool for epidemiological analyses of PID in Europe.
• To estimate the disease burden of primary immunodeficiencies across European countries.
• To facilitate the development of diagnostic and therapeutic strategies and identify novel disease-associated genes.

Main Methods:

• Data collection through an internet-based database established by the European Society for Immunodeficiencies (ESID).
• Documentation of clinical and research data from patients diagnosed with PID across 41 European countries.
• Analysis of documented patient data to determine prevalence, incidence, genetic causes, and diagnostic delays.

Main Results:

• As of the study, 13,708 patients from 41 countries were documented in the ESID database.
• Common variable immunodeficiency (CVID) was the most frequent diagnosis (21%), followed by selective immunoglobulin A (sIgA) deficiency (10.4%).
• Highest PID prevalence was in France (5/100,000 inhabitants), while sIgA deficiency showed the highest prevalence in Hungary (1.3/100,000). Diagnostic delays did not significantly decrease between 1987 and 2010.

Conclusions:

• The ESID database provides a valuable resource for understanding PID epidemiology in Europe.
• CVID and sIgA deficiency are significant contributors to the PID burden in Europe.
• Despite advancements, diagnostic delays for PID remain a challenge, and immunoglobulin replacement is a common long-term treatment.