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کاربرد نوع شرط:
- جایگاه : پژوهشی
- مجله: Immunology and Genetics Journal
- نوع مقاله: Journal Article
- کلمات کلیدی: X-linked Agammaglobulinemia,Bruton's tyrosine kinase,protein expression and phosphorylation
- چکیده:
- چکیده انگلیسی: Background: X-linked (Bruton’s) agammaglobulinemia (XLA) is a rare congenital disorder with defects in early B cell development caused by mutations in the gene encoding BTK (Bruton tyrosine kinase). The aim of this study was to investigate the expression and phosphorylation of BTK protein domain in these patients.
Materials and Methods: A total of 19 patients with mutations in BTK gene were analyzed for the expression and phosphorylation of BTK protein through immunoblotting. The correlations between BTK expression and the results of immunoblotting as well as clinical and immunologic phenotypes were evaluated.
Results: Six patients showed normal expression of protein and phosphorylation of BTK and two patients had normal phosphorylation while no expression was observed. There was a significant difference between the groups of patients with normal expression of protein and those without it (p=0.01).
Conclusion: Since we identified 6 patients with normal expression and phosphorylation of BTK, and two patients with normal phosphorylation but no expression, thus more studies should be done in order to explore other aspects of the disease. Although there was not any significant correlation between the severity of clinical manifestations and BTK expression, further investigations are necessary to determine the compensatory mechanisms in XLA patients.- انتشار مقاله: 30-01-1398
- نویسندگان: Mahsa Sohani,Samaneh Delavari,Hassan Zarnani,Leila Parvaneh,Shima Rasouli,Sepideh Shahkarami,Sepideh Babaie,Fatemeh Kiaee
- مشاهده
- جایگاه : پژوهشی
- مجله: Immunology and Genetics Journal
- نوع مقاله: Journal Article
- کلمات کلیدی: XLA,Correlation analysis,Mutation severity,Clinical and immunological characteristics
- چکیده:
- چکیده انگلیسی: Backgrounds/Objectives: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by mutations in the Bruton tyrosine kinase (BTK) gene. It is characterized by severely reduced numbers of peripheral B cells and a significant deficiency in all serum immunoglobulins. In the present study, the impact of mutation severity on the clinical and immunological characteristics of XLA patients was evaluated.
Methods: Mutation analysis was performed in 19 XLA patients by PCR assay to identify variations in theBTK gene. Subsequently, the western blotting technique was applied for measuring BTKexpression and function. A genotype-phenotype correlation was investigated regarding the impact of mutation severity on clinical and immunological parameters.
Results: Mutation detection in theBTK gene revealed missense mutations in 9 patients, nonsense mutations in 3 cases, splicing site defects in 5 patients, and small in-frame deletions in 2 patients; 31% of patients displayed normal BTK expression. A significant correlation was found between types of BTK mutation and BTK expression.
Discussion: Generally, genotype-phenotype correlation studies on XLA disease seem to be very controversial. The results of the correlation analysis in the present study could indicate that evolution of the disorder is not completely similar in all cases, even with the same mutation.- انتشار مقاله: 27-01-1397
- نویسندگان: Fatemeh Kiaee,Saeed Nasseri,Mahsa Sohani,Samaneh Delavari,Sima Habibi,Sepideh Shahkarami
- مشاهده