Kazan medical journalKazan medical journalКазанский медицинский журнал0368-48142587-9359Eco-Vector1589710.17816/KMJ2019-944ReviewsОбзорыReview ArticleInfluence of genetic polymorphism of innate immunity genes on the development of immune pathologyВлияние генетического полиморфизма генов врожденного иммунитета на развитие состояний иммунной патологии5319-9946KazumianM AКазумянМария Аркадьевна
Russian Federation
kazumianm@yandex.ru5864-9883TeplyakovaE DТепляковаЕлена Дмитриевна
Russian Federation
elenatepl@rambler.ru4753-5447VasilenokA VВасиленокАлександр Васильевич
Russian Federation
aleksdokk@mail.ruMedical CollegeМедицинский колледжRostov State Medical UniversityРостовский государственный медицинский университетChildren’s City Polyclinic No. 4Детская городская поликлиника №4Department of HealthУправление здравоохраненияPirogov Russian National Research Medical University,Российский национальный исследовательской медицинский университет им. Н.И. Пирогова09122019100694494904092019Copyright ©; 2019, Kazumian M.A., Vasilenok A.V., Teplyakova E.D.Copyright ©; 2019, Казумян М.А., Василенок А.В., Теплякова Е.Д.2019Kazumian M.A., Vasilenok A.V., Teplyakova E.D.Казумян М.А., Василенок А.В., Теплякова Е.Д.http://creativecommons.org/licenses/by-nc-sa/4.0https://kazanmedjournal.ru/kazanmedj/article/view/15897

The article presents the literature review devoted to NOD2/CARD15 gene. Genetic variability affects the susceptibility and development of certain human diseases such as autoimmune diseases and infections, affecting numerous cellular processes, and thus modulating the response to environmental and internal factors. The NOD2/CARD15 gene plays a major role in the development and course of various diseases such as Grohn's disease, Blau syndrome, as well as the risk of developing severe complications of the “graft versus host” reaction after allogeneic stem cell transplantation. NOD (Nucleotide Oligomerization Domain) is the domain of nucleotide oligomerization. NOD-like receptors play an important regulatory role in the response on infectious agents and at activation of the adaptive immune response. It is known that the mechanism of action of NOD-like receptors is based on the response to the pathogen of associated molecular patterns mainly of bacterial origin, which leads to the formation and activation of inflammasome. Recently, another NOD-like receptor activation mechanism has been revealed that provides innate virus recognition. The review presents Toll-like receptors, which are part of the innate immune system. Innate immunity is an inherited system of protection of the body against pathogenic and non-pathogenic microorganisms. The mechanisms of innate immunity develop very quickly. In newborns, the immune system is mainly dependent on components of the innate or antigen-independent immune system including phagocytes, natural killer cells, antigen-presenting cells, humoral inflammatory mediators and complement system.

Представлен обзор литературы, посвящённый гену NOD2/CARD15. Генетическая изменчивость влияет на восприимчивость и развитие некоторых заболеваний человека, например таких, как аутоиммунные болезни и инфекции, воздействуя на многочисленные клеточные процессы и тем самым модулируя реакцию на средовые и внутренние факторы. Ген NOD2/CARD15 играет большую роль в развитии и течении различных заболеваний, таких как болезнь Крона, синдром Блау, а также повышает риск развития тяжёлых осложнений реакции «трансплантат против хозяина» после аллогенной трансплантации стволовых клеток. NOD (от англ. nucleotide oligomerization domain) — домен олигомеризации нуклеотидов. NOD-подобные рецепторы играют важную регуляторную роль в ответе на действие возбудителей инфекции и при активации адаптивного иммунного ответа. Известно, что в основе механизма действия NOD-подобных рецепторов лежит ответ на патоген ассоциированных молекулярных паттернов в основном бактериального происхождения, что приводит к образованию и активации инфламмасомы. Недавно был установлен другой механизм активации NOD-подобных рецепторов, который обеспечивает врождённое распознавание вирусов. В обзоре представлены Toll-подобные рецепторы, служащие частью врождённой иммунной системы. Врождённый иммунитет — наследственно закреплённая система защиты организма от патогенных и непатогенных микроорганизмов. Механизмы врождённого иммунитета развиваются очень быстро. У новорождённых иммунная система в основном зависит от компонентов врождённой или антиген-независимой иммунной системы, включая фагоциты, естественные клетки-киллеры, антиген-презентирующие клетки, гуморальные медиаторы воспаления и систему комплемента.

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