BTK mutations selectively regulate BTK expression and upregulate monocyte XBP1 mRNA in XLA patients
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منابع مشابه
BTK mutations selectively regulate BTK expression and upregulate monocyte XBP1 mRNA in XLA patients
Mutations in the Bruton agammaglobulinemia tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA). Unfolded or misfolded proteins can trigger stress pathways in the endoplasmic reticulum (ER), known as unfolded protein response (UPR). The aim was to clarify the involvement of UPR in XLA pathophysiology. By reverse transcription-quantitative PCR, we evaluated the expres...
متن کاملBruton tyrosine kinase (BTK) in X-linked agammaglobulinemia (XLA).
X-linked agammaglobulinemia (XLA) is a heritable immunodeficiency disorder that is caused by a differentiation block leading to almost complete absence of B lymphocytes and plasma cells. The affected protein is a cytoplasmic protein tyrosine kinase, Bruton's agammaglobulinemia tyrosine kinase (Btk). Btk along with Tec, Itk, Bmx and Txk belong to a distinct family of protein kinases. These prote...
متن کاملAnalysis of Btk mutations in patients with X-linked agammaglobulinaemia (XLA) and determination of carrier status in normal female relatives: a nationwide study of Btk deficiency in Greece.
Bruton's tyrosine kinase (Btk) is a nonreceptor tyrosine kinase, critical for B-cell development and function. Mutations that inactivate this kinase were found in families with X-linked agammaglobulinaemia (XLA). In this study the Btk gene was analyzed in 13 registered Greek patients with XLA phenotype originated from 12 unrelated families, in order to provide a definite diagnosis of the XLA. T...
متن کاملDeficient Expression of Bruton's Tyrosine Kinase in Monocytes from X-Linked Agammaglobulinemia as Evaluated by a Flow Cytometric Analysis and its Clinical Application to Carrier Detection
Background: The B-cell defect in X-linked agammaglobulinemia (XLA) is caused by mutations in the gene for Bruton's tyrosine kinase (BTK). BTK mutations result in deficient expression of BTK protein in peripheral blood monocytes. Methods: Using the anti-BTK monoclonal antibody (48-2H), a flow cytometric analysis of intra cytoplasmic BTK protein expression in monocytes was performed to identify I...
متن کاملرابطهی عدم بیان پروتئین تیروزین‌کیناز بروتون و بروز جهش در نواحی غیرکدکننده‌ی ژن, در بیماران آگاماگلوبولینمی وابسته به جنس
Correlation of Null Btk Expression and Gene Noncoding Mutations in XLA Patients Nasseri S1, Sorouri R2, Pourpak Z3, Rezaei N4, Moin M5, Parvaneh N6, Aghamohammadi A7 1 Dept of Molecular Biology, Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran 2 Baqiyatallah University of Medical Sciences, Tehran, Iran and, Zanjan University of Medical Scien...
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ژورنال
عنوان ژورنال: Immunity, Inflammation and Disease
سال: 2015
ISSN: 2050-4527,2050-4527
DOI: 10.1002/iid3.57