Expression of Bruton�s tyrosine kinase gene and endoplasmic reticulum stress markers in X-linked agammaglobulinemia
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چکیده
منابع مشابه
Deficient 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 کاملBTK, the tyrosine kinase affected in X-linked agammaglobulinemia.
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 and Bmx belong to a distinct family of protein kinases. These proteins c...
متن کامل"screening of the bruton tyrosine kinase (btk) gene mutations in 13 iranian patients with presumed x-linked agammaglobulinemia "
x-linked agammaglobulinemia (xla) is an immunodeficiency caused by mutations in the bruton tyrosine kinase (btk) gene. in order to identify the mutations in btk gene in iranian patients with antibody deficiency, 13 male patients with an xla phenotype from 11 unrelated families were enrolled as the subjects of investigation for btk mutation analysis using pcr-sscp followed by sequencing. five di...
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 کاملMutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia.
Mutations in Bruton's tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in peripheral blood. We evaluated 5 male Brazilian patients, ranging from 3 to 10 years of age, from unrelated families, whose diagnosis was based on recurrent inf...
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ژورنال
عنوان ژورنال: Frontiers in Immunology
سال: 2013
ISSN: 1664-3224
DOI: 10.3389/conf.fimmu.2013.02.00880