Study of SH2D1A gene mutation in paediatric patients with B-cell lymphoma

Koochakzadeh L1
Hosseinverdi S2
Hedayat M3
Farahani F1
Tofighi A1
Eghbali M1
Bidoki AZ4
Izadyar M1
Rahiminejad MS1
Ramyar A1
Aghamohammadi A2
Rezaei N5


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.


We studied 20 male subjects diagnosed with non-Hodgkin B-cell lymphoma.


Eleven patients had laboratory evidence of EBV infection by serology and quantitative PCR. The SH2D1A gene analysis was negative in all patients.


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.


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Research Center For immunodeficiency

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