Bruton's Tyrosine Kinase (BTK) Is Present in Normal Platelets, and Its Absence Identifies Patients with X-Linked Agammaglobulinemia (XLA) and Carrier Females
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منابع مشابه
Bruton 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 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 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 کاملBTK (Bruton agammaglobulinemia tyrosine kinase)
The BTK protein is a 77 kDa protein of 659 amino acids. Translation of the BTK transcript starts at the ATG site that is located in exon 2 and ends in exon 19. The BTK protein is composed of an N-terminal Pleckstrin homology (PH) domain followed three protein interacting domains: Tec homology (TH) region, Src homology 3 (SH3) domain and SH2 domain. A tyrosine-kinase catalytic domain is located ...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1999
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199904020-00081