RESUMO
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 finding
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Assuntos
Humanos , Masculino , Criança , Adolescente , Pré-Escolar , Adulto Jovem , Linfoma de Células B/patologia , Linfoma não Hodgkin/genética , Transtornos Linfoproliferativos/genética , Infecções por Vírus Epstein-Barr/genética , Mutação/genética , Herpesvirus Humano 4/imunologia , Peptídeos e Proteínas de Sinalização Intracelular/genética , Análise Mutacional de DNA , Linfoma de Células B/metabolismo , Predisposição Genética para Doença , Irã (Geográfico) , Estudos de Associação GenéticaRESUMO
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.
