X-linked agamaglobulinemia (XLA) or Bruton’s disease is a genetic disease resulting from a mutation in the Bruton’s tyrosine kinase (Btk) gene. This mutation leads to B cell arrest during differentiation (1). This disease was first described by Ogden Bruton in 1952 (2). Approximately 85% of the affected subjects are male (3). This disorder is inherited as an X-linked recessive trait. Carrier fe...

X-linked agammaglobulinemia (XLA) is a humoral primary immunodeficiency. XLA patients typically present with very low numbers of peripheral B cells and a profound deficiency of all immunoglobulin isotypes. Most XLA patients carry mutations in Bruton tyrosine kinase (BTK) gene.The genetic background and clinical features of 174 Chinese patients with XLA were investigated. The relationship betwee...

Submit Manuscript | http://medcraveonline.com (BCR) signalling [6-8], CXCR4 and CXCR5 chemokine receptors, adhesion molecules (integrin), collagen GPVI-FCR gamma chain, GPIB-IX-V complex, CLEC-2 signalling and Toll receptor signalling. BTK is primarily expressed in haematopoietic cells, particularly in B cells, but also in monocytes/macrophages, platelets, neutrophils but not T cells and plasma...

This paper is a performance evaluation of a prototype laser-ablation microanalytical system composed of an UV Excimer laser and a high-sensitivity inductively coupled plasma mass spectrometer (XLA-ICP-MS). The laser was optimized for trace-element microanalysis of silicate minerals, and the effects of different parameters (laser power, focus, carder gas flow, etc.) on the performance characteri...

Src homology 2 (SH2) domains recognize phosphotyrosine (pY)-containing sequences and thereby mediate their association to ligands. Bruton's tyrosine kinase (Btk) is a cytoplasmic protein tyrosine kinase, in which mutations cause a hereditary immunodeficiency disease, X-linked agammaglobulinemia (XLA). Mutations have been found in all Btk domains, including SH2. We have analyzed the structural a...

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency of the humoral compartment, due to a mutation in the Bruton tyrosine kinase (BTK) gene, characterized by a severe defect of circulating B cells and serum immunoglobulins. Recurrent infections are the main clinical manifestations; although they are especially due to encapsulated bacteria, a specific association with Campylobacter sp...

X-linked agammaglobulinemia (XLA) is an extremely rare inherited primary immunodeficiency characterized by recurrent bacterial infections, decrease in number of mature B cells and low serum immunoglobulins. XLA is caused by mutations in the gene encoding Bruton's tyrosine kinase. We report a case of a young Indian boy suspected to have XLA. Immunophenotyping was performed for the affected child...

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 ident...

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...