Study of Sh2d1a Gene Mutation in Paediatric Patients With B-Cell Lymphoma Publisher Pubmed



Koochakzadeh L¹ ; Hosseinverdi S^{1, 2} ; Hedayat M³ ; Farahani F¹ ; Tofighi A¹ ; Eghbali M¹ ; Bidoki AZ⁴ ; Izadyar M¹ ; Rahiminejad MS¹ ; Ramyar A¹ ; Aghamohammadi A^{1, 2} ; Rezaei N^{1, 2, 4, 5}
Source: Allergologia et Immunopathologia Published:2015

Abstract

Background: X-linked lymphoproliferative disease (XLP) is an often fatal inherited immunodeficiency disorder characterised by fulminant infectious mononucleosis, acquired haemophagocytic lymphohistiocytosis, dysgammaglobulinaemia and malignant lymphoma. Given the paucity of data on the genetic stratification of XLP gene mutations in paediatric patients diagnosed with B-cell lymphoma, we sought to determine the existence of such association in the present study. Methods: We studied 20 male subjects diagnosed with non-Hodgkin B-cell lymphoma. Results: Eleven patients had laboratory evidence of EBV infection by serology and quantitative PCR. The SH2D1A gene analysis was negative in all patients. Conclusions: This is the first study to analyse the SH2D1A gene mutations in Iranian paediatric patients diagnosed with lymphoma. Although we could not demonstrate such an association in our cohort of patients, larger, multi-centre studies are required to extend and confirm our early findings. © 2014 SEICAP.