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

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

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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.

About the Authors

Anna A. Roppelt
Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev
Russian Federation


Darya V. Yukhacheva
Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev
Russian Federation


Natalya V. Myakova
Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev
Russian Federation


Nadezhda V. Smirnova
Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev
Russian Federation


Yuliya V. Skvortsova
Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev
Russian Federation


Tatyana V. Varlamova
Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev
Russian Federation


Elena V. Raikina
Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev
Russian Federation


Dmitry S. Abramov
Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev
Russian Federation


Natalya B. Ulanova
St. Petersburg State Pediatric Medical University
Russian Federation


Tatyana V. Gabrusskya
St. Petersburg State Pediatric Medical University
Russian Federation


Anna Yu. Shcherbina
Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev
Russian Federation


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For citation:


Roppelt A.A., Yukhacheva D.V., Myakova N.V., Smirnova N.V., Skvortsova Yu.V., Varlamova T.V., Raikina E.V., Abramov D.S., Ulanova N.B., Gabrusskya T.V., Shcherbina A.Yu. X-Linked lymphoproliferative syndrome types 1 and 2 (Review of literature and clinical case reports). Pediatric Hematology/Oncology and Immunopathology. 2016;15(1):17-26. (In Russ.) https://doi.org/10.24287/1726-1708-2016-15-1-17-26

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ISSN 1726-1708 (Print)
ISSN 2414-9314 (Online)