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.

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Background. In European countries, the prevalence of pollen sensitization reaches 30–40%. In Russia pollen allergy ranges from 12,7 to 38%. In the southern regions of Russia, the main one is ragweed and weed pollen. The efficacy of the subcutaneous medicinal ragweed allergen has not previously been evaluated using modern symptom scales. Methods. Open-label, single-center, placebo-uncontrolled study of 60 patients aged 16–55 years with allergic rhinitis in combination with bronchial asthma and without it. A 2-preseason course of AIT with a subcutaneous allergen of Ambrosia was used for patients with monosensitization and an allergen Ambrosia + Artemisia (for oligosensitized patients) and Ambrosia + a mix of pollen of causal allergen for polysensitized patients. Treatment started 4 months before and stopped 2–4 weeks before the beginning of pollination. The RTSS (the rhinoconjunctivitis total symptom score) scale was used to assess the symptoms, and the DMS (Daily medical score) was used to estimate of medical treatment. Results. After 1-st season of treatment, there was a rapid decrease in the RTSS to 5,0 [4,0; 9,0] compared to the initial values of 13 [10, 15] points. By the second year, the decline in RTSS amounted to 4,5 [3,0; 4,5] points (p <0,001), the total effect size by second course was 0,96 (strong effect of the intervention). DMS (before treatment) was 2,0 [2,0; 2,0] points, after the first and second courses — 1,0 [1,0; 2,0] points (p=0,002), with a moderate effect size of 0,67 after the first year; by the second year, the effect size is 0,75 versus baseline (p <0,01). Conclusion. Monotherapy with a subcutaneous ragweed allergen or its combination with other allergens show high effectiveness, starting from the first course of therapy. In the second year, the improvement continues, but the dynamics decreases. The study demonstrated a strong size of the effect of medical intervention, which cannot be explained by the placebo effect.

BACKGROUND: Allergen-specific immunotherapy (ASIT) helps to reduce spontaneous and to induce basophil reactivity, which is one of the major mechanisms of its effectiveness. A number of studies, though, have not confirmed the informative value of the basophil activation test (BAT), in case of ASIT, with house dust mites, meadow grass pollen, and wasp venom. BAT outcomes are likely to be influenced by the properties of the sensitizing allergen, the duration of ASIT, and the BAT markers that are used. AIMS: To evaluate the basophils reactivity in the patients sensitized to weed pollen and treated with allergen-specific therapy. MATERIALS AND METHODS: The study involved 60 patients (aged 1655) with allergic rhinitis sensitized to weed pollen. The diagnosis was based on the skin test outcomes as well as on identifying specific antibodies to major allergens of ragweed, wormwood, timothy, and birch. The pre-seasonal ASIT involved water-salted extracts of pollen allergens during 2 years. Clinical symptoms and the immunotherapy effectiveness were evaluated 6 and 18 months after the ASIT started. BATs were made before the treatment, after the first and second courses of pre-seasonal ASIT, which corresponded to zero, the 3rd and the 15th months of the treatment. The activated basophils were identified based on the CRTH2pos CD203brightCD3neg phenotype. RESULTS: The first treatment course was completed by 52 patients, while the second one by 43 patients. A statistically significant decrease in spontaneous basophil reactivity was detected only after the second course of ASIT. The decrease in the allergen-induced basophil activation was identified in 67.4% of the samples obtained after the first ASIT course, and in 67.6% of samples taken after the second immunotherapy course. A decrease in the BAT stimulation index (BAT SI) was identified mainly in the patients featuring positive treatment outcomes. CONCLUSIONS: ASIT influences on the basophil reactivity indicators in the patients sensitized to weed pollen. The basophil activation test may be considered as a potential predictor of ASIT effectiveness.

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