Novel Mutations in SH2D1A Gene in X-linked Lymphoproliferative Syndrome, Diagnosed After B-Cell Non-Hodgkin Lymphoma.
| Autor: | Sharapova SO; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk Region, Belarus †Department of Clinical Immunology, Russian Clinical Children's Hospital, Moscow, Russia., Fedorova AS, Pashchenko OE, Vahliarskaya SS, Guryanova IE, Migas AA, Kondratenko IV, Aleinikova OV |
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| Jazyk: | angličtina |
| Zdroj: | Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2017 May; Vol. 39 (4), pp. e203-e206. |
| DOI: | 10.1097/MPH.0000000000000815 |
| Abstrakt: | 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. |
| Databáze: | MEDLINE |
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