OBJECTIVE: To study the prevalence, clinical associations, and functional implications of the @entity69306 mutation of the @entity25869 ( @entity25869 ) in @entity1 with @entity244 ( @entity244 ). METHODS: The @entity25869 @entity69306 mutation was evaluated using polymerase chain reaction (PCR)-based assays in 247 @entity1 with @entity244 (of whom 70 had @entity706 [ @entity706 ]), 145 with @entity1252 ( @entity1252 ), and 101 with @entity309 ( @entity309 ), as well as 180 healthy controls. Real-time PCR and Western blotting were performed for the quantification of both @entity2451 and @entity7286 messenger RNA (mRNA) transcript and protein levels in isolated B cells from @entity1 with @entity706 carrying the mutation ( @entity706 - @entity8410 -RHis159Tyr -derived B cells) compared to B cells from @entity1 with @entity706 who were not carriers of the mutation and healthy controls. RESULTS: Both the @entity706 and @entity244 @entity1 subgroups exhibited significantly higher frequencies of the @entity69306 @entity25869 mutation compared to healthy controls (8.6% of @entity706 @entity1 and 6.2% of @entity244 @entity1 versus 1.7% of healthy controls; P   =   0.02 and P   =   0.04, respectively). The corresponding frequencies of the @entity69306 @entity25869 mutation in @entity1252 and @entity309 @entity1 were 3.5% and 3%, respectively. Of interest, 71.4% of the @entity244 @entity1 with mucosa-associated lymphoid tissue (MALT) @entity706 who were between the ages of 31 and 40 years at disease onset were mutation carriers. The generalized odds ratio for the development of @entity244 -related @entity1074 in the younger age at onset (age <40 years) group in the presence of the @entity25869 mutation was 6.1 (95% confidence interval 2.0-18.7) (P < 0.01). Expression of NF-kB at both the mRNA and protein level was up-regulated in @entity706 - @entity8410 -RHis159Tyr -derived B cells. CONCLUSION: This study identifies an increased prevalence of the @entity25869 @entity69306 mutation in @entity1 with @entity244 , particularly in those with @entity244 complicated by @entity1074 whose disease onset occurred at a younger age. @entity8410 -RHis159Tyr -mediated activation of the alternate NF-kB pathway might contribute to the pathogenesis of @entity244 -related @entity1071 .

A XXXX @entity69306 mutation in @entity244 -related lymphoproliferation.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity7286 :: ('4791', 'Gene') :: ['NF-kB2'] @entity1071 :: ('MESH:D008232', 'Disease') :: ['lymphoproliferative disease'] @entity2451 :: ('4790', 'Gene') :: ['NF-kB1'] @entity706 :: ('MESH:D008223', 'Disease') :: ['lymphoma', 'SS complicated by lymphoma', 'SS-lymphoma'] @entity8410 :: ('10673', 'Gene') :: ['BAFF'] @entity1074 :: ('MESH:D018442', 'Disease') :: ['MALT lymphoma'] @entity1252 :: ('MESH:D008180', 'Disease') :: ['SLE', 'systemic lupus erythematosus'] @entity244 :: ('MESH:D014899', 'Disease') :: ["Sj  gren's syndrome", 'SS-nonlymphoma', 'SS'] @entity25869 :: ('115650', 'Gene') :: ['BAFF receptor', 'BAFF-R'] @entity69306 :: ('p|SUB|H|159|Y', 'ProteinMutation') :: ['His159Tyr'] @entity309 :: ('MESH:D001172', 'Disease') :: ['rheumatoid arthritis', 'RA']
@entity25869 :: (115650,Gene) :: ['BAFF receptor']
