title: Novel Mutations in SH2D1A Gene in X-linked Lymphoproliferative Syndrome, Diagnosed After B-Cell Non-Hodgkin Lymphoma.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: *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.
authors.forename: Svetlana O
authors.initials: SO
authors.lastname: Sharapova
authors.forename: Alina S
authors.initials: AS
authors.lastname: Fedorova
authors.forename: Olga E
authors.initials: OE
authors.lastname: Pashchenko
authors.forename: Svetlana S
authors.initials: SS
authors.lastname: Vahliarskaya
authors.forename: Irina E
authors.initials: IE
authors.lastname: Guryanova
authors.forename: Alexandr A
authors.initials: AA
authors.lastname: Migas
authors.forename: Irina V
authors.initials: IV
authors.lastname: Kondratenko
authors.forename: Olga V
authors.initials: OV
authors.lastname: Aleinikova
mesh_terms: D000361:Agammaglobulinemia; D002648:Child; D006801:Humans; D007074:Immunoglobulin G / Q000097:blood; D008228:Lymphoma, Non-Hodgkin / Q000150:complications* / Q000188:drug therapy; D008232:Lymphoproliferative Disorders / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D000069283:Rituximab / Q000627:therapeutic use; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein / Q000235:genetics*
chemical_list: D007074:Immunoglobulin G; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D000069283:Rituximab