Novel Mutations in SH2D1A Gene in X-linked Lymphoproliferative Syndrome, Diagnosed After B-Cell Non-Hodgkin Lymphoma. Issue 4 (May 2017)

• Record Type: Journal Article
• Authors: Sharapova, Svetlana O.; Fedorova, Alina S.; Pashchenko, Olga E.; Vahliarskaya, Svetlana S.; Guryanova, Irina E.; Migas, Alexandr A.; Kondratenko, Irina V.; Aleinikova, Olga V.
• Is Part Of: Journal of pediatric hematology/oncology. Volume 39:Issue 4(2017)
• Publication Date: 2017-05
• Subjects: X-linked lymphoproliferative disease type I -- SH2D1A mutation -- non-Hodgkin lymphoma -- rituximab -- hypogammaglobulinemia; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000000815
• Languages: English
• ISSNs: 1077-4114

Abstract

Abstract : 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.