Differential Expression and Phosphorylation of BTK Protein Domain in X-linked Agammaglobulinemia

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SOHANI MAHSA; Delavari Samaneh; ZARNANI AMIR HASSAN; Parvaneh Leila; Rasouli Shima; shahkarami Sepideh; Babaie Sepideh; Kiaee Fatemeh

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Journal Paper

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Journal: Immunology and Genetics Journal Year:2019 | Volume:2 | Issue:2 Page(s): 20-28

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Title

Differential Expression and Phosphorylation of BTK Protein Domain in X-linked Agammaglobulinemia

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Keywords

X-linked agammaglobulinemia

Bruton’s tyrosine kinase

protein expression and phosphorylation

Abstract

Background/objectives: 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. 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). Conclusions: 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.

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APA: Copy

SOHANI, MAHSA, Delavari, Samaneh, ZARNANI, AMIR HASSAN, Parvaneh, Leila, Rasouli, Shima, & Babaie, Sepideh. (2019). Differential Expression and Phosphorylation of BTK Protein Domain in X-linked Agammaglobulinemia. IMMUNOLOGY AND GENETICS JOURNA, 2(2), 20-28. SID. https://sid.ir/paper/763641/en

Vancouver: Copy

SOHANI MAHSA, Delavari Samaneh, ZARNANI AMIR HASSAN, Parvaneh Leila, Rasouli Shima, Babaie Sepideh. Differential Expression and Phosphorylation of BTK Protein Domain in X-linked Agammaglobulinemia. IMMUNOLOGY AND GENETICS JOURNA[Internet]. 2019;2(2):20-28. Available from: https://sid.ir/paper/763641/en

IEEE: Copy

MAHSA SOHANI, Samaneh Delavari, AMIR HASSAN ZARNANI, Leila Parvaneh, Shima Rasouli, and Sepideh Babaie, “Differential Expression and Phosphorylation of BTK Protein Domain in X-linked Agammaglobulinemia,” IMMUNOLOGY AND GENETICS JOURNA, vol. 2, no. 2, pp. 20–28, 2019, [Online]. Available: https://sid.ir/paper/763641/en

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