Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia
نویسندگان
چکیده
منابع مشابه
"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 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...
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 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 کاملX-LINKED aGaMMaGLObULINEMIa: MOLEcULar GENEtIc assEssMENt OF tHE brUtON's tYrOsINE KINasE GENE IN tHrEE FaMILIEs
Received for publication: May 10, 2007. Revised: Nov. 05, 2007. rEZUMat 1 3rd Pediatric Clinic, Victor Babes University of Medicine and Pharmacy, Timisoara, 2 2nd Pediatric Clinic, University of Medicine and Pharmacy, Targu Mures, 3 Children Clinical Hospital Oradea, 4 Medical and Health Science Centre, University of Debrecen, Hungary
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Human Mutation
سال: 2000
ISSN: 1059-7794,1098-1004
DOI: 10.1002/(sici)1098-1004(200004)15:4<385::aid-humu21>3.0.co;2-d