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

Anna A. Roppelt; Роппельт Анна Артуровна; Darya V. Yukhacheva; Юхачева Дарья Валерьевна; Natalya V. Myakova; Мякова Наталья Валерьевна; Nadezhda V. Smirnova; Смирнова Надежда Владимировна; Yuliya V. Skvortsova; Скворцова Юлия Валерьевна; Tatyana V. Varlamova; Варламова Татьяна Владимировна; Elena V. Raikina; Райкина Елена Владиславовна; Dmitry S. Abramov; Абрамов Дмитрий Сергеевич; Natalya B. Ulanova; Уланова Наталья Борисовна; Tatyana V. Gabrusskya; Габрусская Татьяна Викторовна; Anna Yu. Shcherbina; Щербина Анна Юрьевна

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

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

Authors: Roppelt A.A.¹, Yukhacheva D.V.¹, Myakova N.V.¹, Smirnova N.V.¹, Skvortsova Y.V.¹, Varlamova T.V.¹, Raikina E.V.¹, Abramov D.S.¹, Ulanova N.B.², Gabrusskya T.V.², Shcherbina A.Y.¹
Affiliations:
1. Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev
2. St. Petersburg State Pediatric Medical University
Issue: Vol 15, No 1 (2016)
Pages: 17-26
Section: ИММУНОЛОГИЯ
Submitted: 19.09.2018
Published: 19.03.2016
URL: https://hemoncim.com/jour/article/view/144
DOI: https://doi.org/10.24287/1726-1708-2016-15-1-17-26
ID: 144

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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.

Keywords

дети, первичный иммунодефицит, Х-сцепленный лимфопролиферативный синдром, вирус Эпштейна-Барр, инфекционный мононуклеоз, гемофагоцитарный лимфогистиоцитоз, дисгаммаглобулинемия, лимфома, воспалительное заболевание кишечника, ген SH2D1A, ген XIAP, _|ген MAGT1, ген CD27, ген ITK, ген CORO1A, children, primary immunodeficiency, X-linked lymphoproliferative syndrome, Epstein-Barr virus, infectious mononucleosis, hemophagocytic lymphohistiocytosis, disgammaglobulinemia, lymphoma, inflammatory bowel disease, SH2D1A gene, XIAP gene, MAGT1 gene, CD27 gene, ITK gene, CORO1A gene

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

Full Text

Abstract

Keywords

About the authors

References

Supplementary files