Primary Immunodeficiencies in Russia: Data From the National Registry.

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.

Prevalence of atopic diseases and the use of topical corticosteroids. Is there any connection?

The prevalence of atopic diseases (atopic dermatitis, bronchial asthma, allergic rhinitis) has considerably increased for the last 40 years. This tendency has coincided with the beginning of the epoch of the use of the topical corticosteroids, which have a potent immunomodulation action. This fact itself as well as a number of research results has allowed to formulate the following hypothesis: the use of topical corticosteroids in children of early age contributes to the increase of prevalence of atopic diseases in the developed countries. The offered hypothesis can explain lower prevalence of atopic diseases in rural areas and in children from families with the anthroposophic life style. In other side this hypothesis also capable to give explanation of increased level of atopic diseases among people with high socioeconomic level and in children from 1 child families. It is of a note that corticosteroids use in developing countries is limited due to economic reasons and active use of complementary medicine. If the proposed hypothesis is correct, a revision of the therapeutic approaches is necessary concerning the attitude towards application of topical corticosteroids in children suffering from various forms of eczema. The direct proof of this hypothesis can be found during prospective studies.