The aim of review. To analyze modern approach to pathogenesis of Crohn's diseases (CD), to determine effect of individual immunogenetic factors on development and progression of disease, in particular, in relation to HLA profile.Summary. Series of the population studies, confirming association of HLA antigens with human diseases were carried out. Main histocompatibility complex (MHC) plays the leading role in immune response as well as in development of CD, therefore occurrence of disease is related to changes at genetic level. Many studies indicate relation of Crohn's disease to specific genes of HLA-system. Hence, scientists of USA, Canada, Spain, Finland confirmed association of HLA-DRB1*0103 allele with development of CD, as well as with course of inflammatory bowel diseases and their complications. Important role in development of Crohn's disease in different countries is played by specific groups of alleles. In Israel interrelation of CD with DR15, in Germany — with HLA-DRB1*0701, in China — with HLA-Cw*12, in Japan — with HLA-DRB1*0405 and 0410 was established. Associations with clinical forms of disease was found, in particular in Italy presence of DRB1*0304, DRB1*0305, DRB1*0307, DRB1*0309 is linked to total involvement of the large intestine, in Spain presence of HLA-DRB1*07 — with terminal ileitis at CD, HLA-DRB1*0103 — with colitis. It has been demonstrated, that certain HLA-haplotypes have stronger association with Crohn's disease. For example, in Japan presence of Cw*1202-B*5201-DRB1*1502 haplotype reduces the risk of CD development. In Russia these studies are less concerned and were carried out by serological HLA typing methods. So, development of Crohn's disease was associated with B14, DR3 and DR5.Conclusion. Presented ambiguous results are caused, first of all, by ethnic differences and different frequency of some alleles in different populations. Thus, assessment of predisposition and resistance to Crohn's disease requires detection of HLA-markers in each specific population group.

1Moscow Clinical Research-and-Practical Center, Moscow Healthcare Department, Moscow; 2A.I. Evdokimov Moscow State University of Medicine and Dentistry, Ministry of Health of Russia, Moscow; 3Children’s Health Research Center, Ministry of Health of Russia, Moscow; 4I.I. Mechnikov North-Western State Medical University, Ministry of Health of Russia, Saint Petersburg; 5M.F. Vladimirsky Moscow Regional Research Clinical Institute, Moscow; 6Russian Medical Academy of Postgraduate Education, Ministry of Health of Russia, Moscow; 7Novosibirsk State Medical University, Ministry of Health of Russia, Novosibirsk; 8Russian Children’s Clinical Hospital, Moscow; 9Department of Pediatrics, Russian Medical Academy of Postgraduate Education, Ministry of Health of Russia, Moscow; 10I.P. Pavlov First Saint Petersburg State Medical University, Ministry of Health of Russia, Saint Petersburg; 11Acad. Yu.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow; 12Clinic Four, Department of Pediatrics, I.P. Pavlov First Saint Petersburg State Medical University, Ministry of Health of Russia, Saint Petersburg; 13Childhood Diseases Department Two, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow; 14Research Laboratory of Surgical Gastroenterology and Endoscopy, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow; 15Department of Endoscopic Surgery, City Clinical Hospital Thirty-One, Moscow Healthcare Department, Moscow; 16A.N. Ryzhikh State Research Center of Coloproctology, Ministry of Health of Russia, Moscow; 17Department of Intermediate-Level Therapy, Tver State Medical University, Ministry of Health of Russia, Tver; 18Laboratory of Medical Genetics, Diagnostic Center of Medical Genetics, Saint Petersburg; 19HLA Typing Laboratory, Blood Transfusion Station, Moscow Healthcare Department, Moscow; 20S.P. Botkin City Clinical Hospital, Moscow Healthcare Department, Moscow; 21Department of Nervous System Diseases, I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia, Moscow; 22Department of Endocrinology and Diabetology, A.I. Evdokimov Moscow State University of Medicine and Dentistry, Ministry of Health of Russia, Moscow; 23Acad. V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia, Moscow; 24Department of Therapy, Kazan State Medical Academy, Ministry of Health of Russia, Kazan; 25Department of Intermediate-Level Therapy with Course of Occupational Diseases, Faculty of General Medicine, Omsk State Medical University, Ministry of Health of Russia, Omsk; 26Dmitry Rogachev Federal Research Clinical Center of Pediatric Hematology, Oncology, and Immunology, Ministry of Health of Russia, Moscow The paper presents the All-Russian consensus on the diagnosis and treatment of celiac disease in children and adults, which has been elaborated by leading experts, such as gastroenterologists and pediatricians of Russia on the basis of the existing Russian and international guidelines. The consensus approved at the 42nd Annual Scientific Session of the Central Research Institute of Gastroenterology on Principles of Evidence-Based Medicine into Clinical Practice (March 2—3, 2016). The consensus is intended for practitioners engaged in the management and treatment of patients with celiac disease. Evidence for the main provisions of the consensus was sought in electronic databases. In making recommendations, the main source was the publications included in the Cochrane Library, EMBASE, MEDLINE, and PubMed. The search depth was 10 years. Recommendations in the preliminary version were reviewed by independent experts. Voting was done by the Delphic polling system.

Аннотация В статье изложен Всероссийский консенсус по диагностике и лечению целиакии у детей и взрослых, разработанный ведущими экспертами — гастроэнтерологами и педиатрами России на основе существующих отечественных и зарубежных рекомендаций. Консенсус утвержден на 42-й ежегодной Научной сессии ЦНИИГ «Принципы доказательной медицины в клиническую практику» (2—3 марта 2016 г.). Консенсус предназначен для практикующих врачей, осуществляющих ведение и лечение больных целиакией. Поиск доказательств основных положений консенсуса проводился в электронных базах данных. При составлении рекомендаций основным источником являлись публикации, вошедшие в Кохрейновскую библиотеку, базы данных EMBASE, MEDLINE и PubMed. Глубина поиска — 10 лет. Рекомендации в предварительной версии рецензированы независимыми экспертами. Голосование проводилось по Дельфийской системе.

Aim: to study immunogenetic markers of predisposition to the development and protection for Crohn's disease in adults population of the Moscow region. Material and methods. The study included 53 samples of peripheral blood of patients with Crohn's disease in the Moscow region. The control group was represented by 1,700 samples of umbilical cord blood is healthy newborns. Revealing HLA antigens at low level performed by SSO method on DynalRELI 48 processor. The results received with ambiguous interpretation was using PCR-SSP method (Ivitrogen). Results. Were found the positive and negative associations of groups of HLA alleles with clinical form, the course of Crohn's disease and response to steroid treatment, in particular revealed that, predisposition to the development for Crohn's disease in women and with sensitivity to steroid treatment in this disease associated allele group C*12, to the characteristic restricting markers such as Crohn's disease include the В 38 and A*11 markers nonrestricting, nonpenetrating noninflammatory type groups are alleles B*56 and C*14 and C*14 is also associated with the risk of Crohn's disease in men, characteristic markers of protection to the development of the disease crown with chronic relapsing and severe clinical course are DQB1*02 and DQB1*03, respectively. Conclusion. These results demonstrate the need for studies of gene polymorphism HLA-system, not only in relation to the disease in general, but in selected patients with clinical groups.

Aim: to study immunogenetic markers of predisposition to the development and protection for Crohn's disease in adults population of the Moscow region. Material and methods. The study included 53 samples of peripheral blood of patients with Crohn's disease in the Moscow region. The control group was represented by 1,700 samples of umbilical cord blood is healthy newborns. Revealing HLA antigens at low level performed by SSO method on DynalRELI 48 processor. The results received with ambiguous interpretation was using PCR-SSP method (Ivitrogen). Results. Were found the positive and negative associations of groups of HLA alleles with clinical form, the course of Crohn's disease and response to steroid treatment, in particular revealed that, predisposition to the development for Crohn's disease in women and with sensitivity to steroid treatment in this disease associated allele group C*12, to the characteristic restricting markers such as Crohn's disease include the В 38 and A*11 markers nonrestricting, nonpenetrating noninflammatory type groups are alleles B*56 and C*14 and C*14 is also associated with the risk of Crohn's disease in men, characteristic markers of protection to the development of the disease crown with chronic relapsing and severe clinical course are DQB1*02 and DQB1*03, respectively. Conclusion. These results demonstrate the need for studies of gene polymorphism HLA-system, not only in relation to the disease in general, but in selected patients with clinical groups.

The multitude of carried out population studies resulted in confirmation of association of HLA-antigens with human diseases. The ulcerative colitis is belongs to the group of chronic inflammatory diseases of intestine. The etiology and pathogenesis of ulcerative colitis is still quite contradictory. The article considers actual approach to pathogenesis of development of ulcerative colitis. The material demonstrates impact of individual immunogenotypic factors on origin and development of disease and specifically relationship with particular profile of HLA-system.

Certain groups of HLA gene alleles play an important role in emergence of acquired aplastic anemia (AAA). We studied HLA antigens in Slavic children with AAA of different clinical forms, severity, and response to immunosuppressive therapy (IST). The study was carried out in 147 children with AAA. The reference group was formed from 1700 specimens of umbilical blood from healthy newborns. HLA genotyping showed that DRB1*15 and B*51 were common markers of liability to idiopathic aplastic anemia for boys from the age of 14 years and girls aged under 14 years; characteristic markers were dQB1*06 for girls aged under 14 years and B*08, B*40, DRB1*03 for boys aged under 14 years. A common marker of liability to extremely severe AAA in boys and to severe AAA, including the disease sensitive to combined 1ST, was HLa-DRB1*15; characteristic markers of liability to extremely severe AAA in boys were B*08, B*14, and DRB1*03. These results suggested a novel view on the available models of AAA pathogenesis.

The article presents the results of the study of the genetic polymorphism of HLA-antigens in 65 adult patients with ulcerative colitis (UC) living in Moscow region. It was found that certain groups of HLA alleles are associated with the pathogenesis of UC. Immunogenetic factors of predisposition and sustainability to this disease depending on gender and age were revealed. The relationship of immunogenetic factors with clinical forms of the disease, course of the UC and response to therapy with glucocorticoids were shown.

The activity of the Register of unrelated donors of hemopoietic stem cells derived from the umbilical cord blood (CB HSC) stored at Stem Cell Bank of Moscow is analyzed. The biological characteristics of cryopreserved umbilical blood samples for one specimen procured for transplantation are presented. The presence of few unrelated donors of CD HSC in the Register database makes it possible to select a compatible (6/6) donor-recipient pair with a probability of 1:151. The results of the Register activity demonstrate objective difficulties in the choice of compatible HSC donor, explained by high genetic variations in the human population and in other parameters of the donor, eventually essential for his/her selection for the recipient.

Прогресс в области трансплантации аллогенных гемо-поэтических стволовых клеток (ГСК) пуповинной крови неразрывно был связан с развитием банков пуповинной крови, созданных для обеспечения систематического сбора, тестирования, обработки, хранения, организации подбора и выдачи образцов пуповинной крови для трансплантации. Целью исследования была разработка алгоритма работы Московского банка-регистра безвозмездных неродственных доноров ГСК пуповинной крови. В статье охарактеризованы биологические характеристики всех образцов пуповинной крови, внесенные в регистр безвозмездных доноров Московского банка стволовых клеток (на 1 криокон-сервированный образец пуповинной крови). Показано, что небольшое количество безвозмездных неродственных доноров ГСК пуповинной крови в базе данных регистра позволяет подобрать совместимую (6/6) пару донор-реципиент с частотой вероятности 1:151. Предложенный алгоритм работы Московского банка-регистра рекомендуется использовать при создании, усовершенствовании и работе других банков-регистров безвозмездных неродственных доноров ГСК пуповинной крови.

The activity of the Register of unrelated donors of hemopoietic stem cells derived from the umbilical cord blood (CB HSC) stored at Stem Cell Bank of Moscow is analyzed. The biological characteristics of cryopreserved umbilical blood samples for one specimen procured for transplantation are presented. The presence of few unrelated donors of CD HSC in the Register database makes it possible to select a compatible (6/6) donor-recipient pair with a probability of 1:151. The results of the Register activity demonstrate objective difficulties in the choice of compatible HSC donor, explained by high genetic variations in the human population and in other parameters of the donor, eventually essential for his/her selection for the recipient.