Х-сцепленный лимфопролиферативный синдром 1-го и 2-го типов (обзор литературы и собственные клинические наблюдения)

Статья в Elpub

Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2016; 15: 17-26

Х-сцепленный лимфопролиферативный синдром 1-го и 2-го типов (обзор литературы и собственные клинические наблюдения)

Роппельт Анна Артуровна, Юхачева Дарья Валерьевна, Мякова Наталья Валерьевна, Смирнова Надежда Владимировна, Скворцова Юлия Валерьевна, Варламова Татьяна Владимировна, Райкина Елена Владиславовна, Абрамов Дмитрий Сергеевич, Уланова Наталья Борисовна, Габрусская Татьяна Викторовна, Щербина Анна Юрьевна

https://doi.org/10.24287/1726-1708-2016-15-1-17-26

Аннотация

Х-сцепленный лимфопролиферативный синдром (X-linked lymphoproliferative syndrome - XLP) - первичный иммунодефицит, характеризующийся атипичной реакцией на инфекцию вирусом Эпштейна-Барр (ВЭБ), вследствие чего развивается гемофагоцитоз, дисгаммаглобулинемией и в зависимости от типа синдрома злокачественной лимфопролиферацией. Известно 3 типа XLP. В основе XLP 1-го типа лежит мутация в гене SH2D1A, кодирующем адаптерную молекулу SAP. Этот тип XLP характеризуется предрасположенностью к ВЭБ-инфекции, гемофагоцитарному лимфо-гистиоцитозу (ГЛГ), дисгаммаглобулинемии и злокачественной лимфопролиферации. Схожий с ним по некоторым клиническим проявлениям, а именно предрасположенностью к ВЭБ-инфекции и высокому риску развития ГЛГ, XLP 2-го типа тем не менее сильно отличается от XLP 1-го типа по патогенезу, развитию геморрагического колита и отсутствию лимфом. Клиническая картина XLP 2-го типа складывается в результате дефекта гена XIAP или BIRC4, кодирующего антиапоптотический белок. Недавно был открыт и XLP 3-го типа, обусловленный мутацией с потерей функции в гене магниевого канала MAGT1. Кроме того, на сегодняшний день известно несколько синдромов, наследуемых по аутосомно-рецессивному типу, со схожей с XLP клинической картиной, заключающейся в ВЭБ-ассоциированной лимфопролиферации, с дефектами в генах ITK, CD27 и CORO1A. В статье представлены клинические наблюдения детей с XLP 1-го и 2-го типов как наиболее часто встречающихся.

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Pediatric Hematology/Oncology and Immunopathology. 2016; 15: 17-26

X-Linked lymphoproliferative syndrome types 1 and 2 (Review of literature and clinical case reports)

Roppelt Anna A., Yukhacheva Darya V., Myakova Natalya V., Smirnova Nadezhda V., Skvortsova Yuliya V., Varlamova Tatyana V., Raikina Elena V., Abramov Dmitry S., Ulanova Natalya B., Gabrusskya Tatyana V., Shcherbina Anna Yu.

https://doi.org/10.24287/1726-1708-2016-15-1-17-26

Abstract

X-Linked lymphoproliferative syndrome (XLP) is a primary immunodeficiency characterized by atypical reaction to Epstein-Barr virus (EBV), resulting in the development of hemophagocytosis, disgammaglobulinemia, and, depending on the syndrome type, malignant lymphoproliferation. Three types of XLP are known. XLP type 1 is a result of mutation in the SH2D1A gene encoding SAP adapter molecule. This XLP type is characterized by predisposition to EBV infection, hemophagocytic lymphohistiocytosis (HLH), disgammaglobulinemia, and malignant lymphoproliferation. XLP type 2 is similar to XLP type 1 by some clinical manifestations, such as predisposition to EBV infection and high risk of HLH, but differs from type 1 by the pathogenesis, development of hemorrhagic colitis, and absence of lymphomas. The clinical manifestations of XLP type 2 develop as a result of defects in XIAP gene, also known as BIRC4 gene, encoding an antiapoptotic protein. XLP type 3, caused by loss-of-function _ mutations in the gene encoding magnesium transporter 1 (MAGT1), has been recently discovered. In addition, several autosomal recessive syndromes with a similar XLP clinical manifestation - EBV-associated lymphoproliferation, with ITK, CD27, and CORO1A genes defects, are known. Clinical case reports of the most incident XLP types 1 and 2 are presented.

References