Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children14610.24287/1726-1708-2016-15-1-34-40ИММУНОЛОГИЯAutoimmune lymphoproliferative syndrome (Review of literature)Аутоиммунный лимфопролиферативный синдром (обзор литературы)ShvetsOksana A.ШвецОксана Анатольевна
Russian Federation
shv18081979@gmail.comShcherbinaA. Yu.ЩербинаАнна Юрьевна
Russian Federation
shcher26@hotmail.comFederal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry RogachevФедеральный научно-клинический центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева Минздрава России19032016151344019092018Copyright ©; 2016, «D. Rogachev NMRCPHOI»Copyright ©; 2016, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2016«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/146

Programmed cell death (apoptosis) of lymphocytes is an integral component of immune homeostasis. Disorders in this process can lead to the development of the autoimmune lymphoproliferative syndrome (ALPS), a unique genetically determined clinical condition in which disorders in lymphocyte apoptosis are combined with lymphoproliferation and autoimmunity. Since the first description of this syndrome in the 20th century, the potentialities of its diagnosis and treatment have been improved. The hereditary genetic defect involves the FAS signal protein in the majority of ALPS patients, but the notion of unspecified ALPS is gradually blurred with the development of molecular genetic diagnosis - new mutations are identified, extending the spectrum of clinical manifestations and the age of the disease debut. Modern therapeutic methods allow effective control of the disease course.

Программированная клеточная гибель (апоптоз) лимфоцитов - неотъемлемое звено иммунного гомеостаза. Нарушение данного процесса может приводить к развитию аутоиммунного лимфопролиферативного синдрома (АЛПС) - уникального генетически обусловленного клинического состояния, при котором нарушения апоптоза лимфоцитов сочетаются с лимфопролиферацией и аутоиммунными проявлениями. С тех пор, как в XX веке заболевание было впервые описано, произошли дополнения в диагностике и в возможностях лечения этого синдрома. Наследуемый генетический дефект у большинства пациентов с АЛПС затрагивает FAS-сигнальный протеин, но с развитием молекулярно-генетической диагностики понятие неуточненного АЛПС постепенно размывается, обозначая новые мутации, расширяя спектр клинических проявлений и возраст дебюта заболевания. Современные терапевтические возможности позволяют с успехом контролировать течение заболевания.

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