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

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

Content Provider	Semantic Scholar
Author	Sharapova, Svetlana O. Fedorova, Alina S. Pashchenko, O. E. Vahliarskaya, Svetlana S. Guryanova, Irina E. Migas, Alexandr A. Kondratenko, Irina Aleinikova, Olga V.
Copyright Year	2017
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.
File Format	PDF HTM / HTML
DOI	10.1097/MPH.0000000000000815
PubMed reference number	28267077
Journal	Medline
Volume Number	39
Alternate Webpage(s)	https://oncology.by/books/publications/inostrannie/CLINICAL%20AND%20LABORATORY%20OBSERVATIONS.pdf
Alternate Webpage(s)	https://doi.org/10.1097/MPH.0000000000000815
Journal	Journal of pediatric hematology/oncology
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article

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