Novel Mutations in SH2D1A Gene in X-linked Lymphoproliferative Syndrome, Diagnosed After B-Cell Non-Hodgkin Lymphoma.
J Pediatr Hematol Oncol
; 39(4): e203-e206, 2017 05.
Article
em En
| MEDLINE
| ID: mdl-28267077
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Linfoma não Hodgkin
/
Proteína Associada à Molécula de Sinalização da Ativação Linfocitária
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Transtornos Linfoproliferativos
Tipo de estudo:
Clinical_trials
/
Diagnostic_studies
Limite:
Child
/
Humans
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Male
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article