Novel Mutations in SH2D1A Gene in X-linked Lymphoproliferative Syndrome, Diagnosed After B-Cell Non-Hodgkin Lymphoma

被引：6

作者：

Sharapova, Svetlana O. ^{[1
]}

Fedorova, Alina S. ^{[1
]}

Pashchenko, Olga E. ^{[2
]}

Vahliarskaya, Svetlana S. ^{[2
]}

Guryanova, Irina E. ^{[1
]}

Migas, Alexandr A. ^{[1
]}

Kondratenko, Irina V. ^{[2
]}

Aleinikova, Olga V. ^{[1
]}

机构：

[1] Belarusian Res Ctr Pediat Oncol Hematol & Immunol, Res Dept, Minsk Region, BELARUS

[2] Russian Clin Childrens Hosp, Dept Clin Immunol, Moscow, Russia

来源：

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2017年 / 39卷 / 04期

关键词：

X-linked lymphoproliferative disease type I; SH2D1A mutation; non-Hodgkin lymphoma; rituximab; hypogammaglobulinemia; XLP; IMMUNODEFICIENCY; INFECTION; PHENOTYPE;

D O I：

10.1097/MPH.0000000000000815

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Background: X-linked lymphoproliferative disease type I (XLP I) is caused by mutations in the SH2D1A gene and characterized mainly by hypogammaglobulinemia and abnormal response to Epstein-Barr virus with a high predisposition to B-cell non-Hodgkin lymphoma development. Observations: In this article, we describe the experience of 2 centers in Belarus and in Russia that follow 3 male patients who were diagnosed with XLP I after lymphoma development and treatment. Three novel mutations c.51G>C (p. E17D), c. 192G>T (p. W64C), and c. 53insA (p. K18KfsX67) were found in 3 males patients with XLP I. Two of them did not have any signs of immunodeficiency before B-cell non-Hodgkin lymphoma development. Conclusions: We propose SH2D1A mutational screening be considered in male patients with or without hypogammaglobulinemia who received rituximab treatment for lymphoma and did not recover immunoglobulin G in a year after B-depleting therapy.

引用

页码：E203 / E206

页数：4

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