title: Gammopathy and B lymphocyte clonality in patients with Gaucher type I disease.
abstract: BACKGROUND
  We evaluated a novel approach for investigation of lymphocyte dysregulation in Gaucher patients by including determination of IgH and TCR gene rearrangements together with levels of immunoglobulins, natural autoantibodies as well as presence of monoclonal protein.
  
  
  METHODS
  Measurement of serum immunoglobulins, monoclonal immunoglobulins, selected autoantibodies, as well as analysis of immunoglobulin heavy chain and T cell receptor gene rearrangements.
  
  
  RESULTS
  Immunoglobulin disorder was detected in 29.6% patients, 40.7% demonstrated presence of B cell clonality and 44.4% demonstrated presence of autoantibodies. In five patients in our series, the presence of IgH gene rearrangement was the only detectable indicator of B cell dysfunction. TCR gene rearrangements were not found in any of the patients.
  
  
  CONCLUSIONS
  Based on our results, we propose IgH gene rearrangements as a new biomarker for investigation of B cell dysfunction occurring as a complication of Gaucher disease.
authors.affiliation: Department of Hematology and Oncology, University Children's Hospital, Belgrade, Serbia.
authors.forename: Predrag
authors.initials: P
authors.lastname: Rodic
authors.forename: Sonja
authors.initials: S
authors.lastname: Pavlovic
authors.forename: Tatjana
authors.initials: T
authors.lastname: Kostic
authors.forename: Nada
authors.initials: N
authors.lastname: Suvajdzic Vukovic
authors.forename: Maja
authors.initials: M
authors.lastname: Djordjevic
authors.forename: Zorica
authors.initials: Z
authors.lastname: Sumarac
authors.forename: Marijana
authors.initials: M
authors.lastname: Dajak
authors.forename: Branka
authors.initials: B
authors.lastname: Bonaci Nikolic
authors.forename: Dragana
authors.initials: D
authors.lastname: Janic
mesh_terms: D000293:Adolescent; D000328:Adult; D001402:B-Lymphocytes / Q000276:immunology* / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000235:genetics* / Q000276:immunology*; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics* / Q000276:immunology*; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D008297:Male; D008875:Middle Aged; D011948:Receptors, Antigen, T-Cell / Q000235:genetics / Q000276:immunology; D055815:Young Adult
chemical_list: D007143:Immunoglobulin Heavy Chains; D011948:Receptors, Antigen, T-Cell