LAUSR

Primary immunodeficiency diseases (PID) occur on average with a frequency of 1: 100 000 of the population. In accordance with the classification of PIDS of the International Union of Immunological Societies (IUIS) 9 different groups of innate errors of immunity are distinguished [1]. The polymorphism of the clinical picture, difficulties in recognizing PID cause their late diagnosis and the associated development of irreversible organ damage, complications and high mortality. According to the traditional view, the clinical marker of PID is an infectious syndrome. However, in some cases, PID is detected as a rheumatologic disease.The aim of the study is to analyze the frequency of rheumatologic diseases in adult patients with PID living in one of the subjects of Russia –Chuvashia.The material of the study was patient data obtained during a retrospective analysis of 49 outpatient records included in the Republican Register of PID. Diagnosis of various forms of PIDS was carried out in accordance with the criteria developed by the IUIS [1].During the period from 1993 to January 2020, 49 cases of PID were registered in the adult population of Chuvashia. According to the frequency of PID, сommon variable immunodeficiency (CVID) is the most common in Chuvashia (26 people). In the second place there is selective IgA deficiency (10 people); in third place there are X-linked agammaglobulinemia (4 people) and hereditary angioedema (4 people). The remaining forms of PID account for 5 cases: 2 cases of Louis-Bar syndrome, 1 case of DiGeorge syndrome, 1 case of Wiskott-Aldrich syndrome and 1 case of Hyper IgE syndrome. The main symptom of PID in 35 (71.4%) patients was heightened susceptibility to infection. In 14 (28.6%) patients, the clinical picture was dominated by non-infectious presentations (autoimmune, lymphoproliferative and oncological diseases). In 9 patients (18.3%), it was manifested by rheumatologic diseases (rheumatoid arthritis, psoriatic arthritis, scleroderma-like syndrome). These symptoms were more characteristic of CVID. With selective IgA deficiency and X-linked agammaglobulinemia, rheumatic symptoms were observed only in isolated cases. CVID debuted in 2 cases as rheumatoid arthritis, resulting in the delay in the diagnosis of an average of 5.2 years. Only the detailed immunological and genetic study made it possible to diagnose PID and prescribe adequate treatment – replacement immunoglobulin therapy. This treatment reduced the frequency of infectious manifestations of the disease and it did not significantly improve the course of rheumatological diseases. Therefore, the use of methotrexate and targeted therapy was continued.In the clinical picture of PID, rheumatic symptoms predominate in 28.6% of cases, which requires a thorough immunological and genetic examination of patients with rheumatic diseases in order to diagnose PID in a timely manner.[1]Picard C, Bobby Gaspar H, Al-Herz W, et al. J Clin Immunol. 2018;38(1):96-128.None declared