Primary Immunodeficiencies in Russia: Data From the National Registry

Area of Science:

• Immunology
• Genetics
• Epidemiology

Background:

• Primary immunodeficiencies (PID) are rare genetic disorders with diverse clinical manifestations.
• National registries are crucial for understanding PID epidemiology and clinical characteristics.
• The Russian PID registry was established in 2017 to collect comprehensive patient data.

Purpose of the Study:

• To analyze the initial epidemiological and clinical data of primary immunodeficiencies in Russia.
• To identify the most common PID types and demographic distributions.
• To highlight challenges in PID diagnosis and treatment based on registry data.

Main Methods:

• Utilized a secure, internet-based national registry database established by the National Association of Experts in PID (NAEPID).
• Collected detailed clinical, laboratory, and therapeutic data from PID patients of all ages across all Federal Districts of Russia.
• Analyzed data on patient demographics, PID types, prevalence, birth rate, mortality, genetic testing, diagnostic delay, and treatment modalities.

Main Results:

• The registry contains data on 2,728 patients, with antibody defects (26%) and syndromic PID (22%) being the most frequent.
• Minimum PID prevalence is 1.3:100,000, with an estimated birth rate of 5.7 per 100,000 live births.
• Median diagnostic delay is 2 years, with significant variation by PID type; 16% of patients have undergone HSCT, and 3 underwent gene therapy for WAS.

Conclusions:

• The first analysis of the Russian PID registry provides valuable insights into the epidemiological landscape of these rare diseases.
• Significant diagnostic delays persist, varying by PID category, underscoring the need for improved early detection strategies.
• The data highlights key challenges in PID management, including treatment approaches and the impact of advanced therapies like HSCT and gene therapy.