title: Study of SH2D1A gene mutation in paediatric patients with B-cell lymphoma.
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.
authors.affiliation: Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: L
authors.initials: L
authors.lastname: Koochakzadeh
authors.affiliation: Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: S
authors.initials: S
authors.lastname: Hosseinverdi
authors.affiliation: Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
authors.forename: M
authors.initials: M
authors.lastname: Hedayat
authors.affiliation: Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: F
authors.initials: F
authors.lastname: Farahani
authors.affiliation: Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: A
authors.initials: A
authors.lastname: Tofighi
authors.affiliation: Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Eghbali
authors.affiliation: Molecular Immunology Research Center, and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: A Z
authors.initials: AZ
authors.lastname: Bidoki
authors.affiliation: Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Izadyar
authors.affiliation: Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: M S
authors.initials: MS
authors.lastname: Rahiminejad
authors.affiliation: Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: A
authors.initials: A
authors.lastname: Ramyar
authors.affiliation: Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: A
authors.initials: A
authors.lastname: Aghamohammadi
authors.affiliation: Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Molecular Immunology Research Center, and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Universal Scientific Education and Research Network (USERN), Tehran, Iran. Electronic address: rezaei_nima@tums.ac.ir.
authors.forename: N
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D000293:Adolescent; D001402:B-Lymphocytes / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D020031:Epstein-Barr Virus Infections / Q000150:complications / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D004854:Herpesvirus 4, Human / Q000276:immunology*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007492:Iran; D008228:Lymphoma, Non-Hodgkin / Q000150:complications / Q000235:genetics*; D008232:Lymphoproliferative Disorders / Q000150:complications / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D055815:Young Adult
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein
keywords: Hypogammaglobulinaemia; Lymphoma; Mutations; SH2D1A gene; X-linked lymphoproliferative disorder