Abstract
Introduction: Primary immunodeficiencies (PID) are a group of rare genetic disorders with a multitude of clinical symptoms. Characterization of epidemiological and clinical data via national registries has proven to be a valuable tool of studying these diseases.Materials and Methods: The Russian PID registry was set up in 2017, by the National Association of Experts in PID (NAEPID). It is a secure, internet-based database that includes detailed clinical, laboratory, and therapeutic data on PID patients of all ages.Results: The registry contained information on 2,728 patients (60% males, 40% females), from all Federal Districts of the Russian Federation. 1,851/2,728 (68%) were alive, 1,426/1,851 (77%) were children and 425/1,851 (23%) were adults. PID was diagnosed before the age of 18 in 2,192 patients (88%). Antibody defects (699; 26%) and syndromic PID (591; 22%) were the most common groups of PID. The minimum overall PID prevalence in the Russian population was 1.3:100,000 people; the estimated PID birth rate is 5.7 per 100,000 live births. The number of newly diagnosed patients per year increased dramatically, reaching the maximum of 331 patients in 2018. The overall mortality rate was 9.8%. Genetic testing has been performed in 1,740 patients and genetic defects were identified in 1,344 of them (77.2%). The median diagnostic delay was 2 years; this varied from 4 months to 11 years, depending on the PID category. The shortest time to diagnosis was noted in the combined PIDs—in WAS, DGS, and CGD. The longest delay was observed in AT, NBS, and in the most prevalent adult PID: HAE and CVID. Of the patients, 1,622 had symptomatic treatment information: 843 (52%) received IG treatment, mainly IVIG (96%), and 414 (25%) patients were treated with biological drugs. HSCT has been performed in 342/2,728 (16%) patients, of whom 67% are currently alive, 17% deceased, and 16% lost to follow-up. Three patients underwent gene therapy for WAS; all are currently alive.Conclusions: Here, we describe our first analysis of the epidemiological features of PID in Russia, allowing us to highlight the main challenges around PID diagnosis and treatment.
Highlights
Primary immunodeficiencies (PID) are a group of rare genetic disorders with a multitude of clinical symptoms
Primary immunodeficiencies (PID)— referred to as “inborn errors of immunity”—are rare disorders characterized by susceptibility to infection and a preponderance of autoimmunity, allergy, autoinflammation, and malignancies
According to the latest update of the International Union of Immunological Societies Experts Committee (IUIS) [1] classification, germline mutations in 430 genes cause 404 distinct phenotypes of immunological diseases, divided into 10 groups according to the type of immunological defect
Summary
Primary immunodeficiencies (PID) are a group of rare genetic disorders with a multitude of clinical symptoms. Wide introduction of the molecular genetic techniques, including next-generation sequencing (NGS) [2], has led to the description of novel PID genes. This allows for a more precise assessment of clinical prognosis and for the choice of targeted therapy—or even gene therapy—as well as for family counseling [3]. In European countries, the estimated prevalence of PID ranges from 2.7/100,000 in Germany, to 4.16-5.9/100,000 in Switzerland and the United Kingdom (UK), to 8/100,000 in France [3,4,5,6,7] These numbers are in the range of the "orphan diseases" category. In patients with mendelian susceptibility to mycobacterial diseases (MSMD) [8], suggest that the actual prevalence is much higher
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