Characterization of Bruton's tyrosine kinase mutations in Mexican patients with X-linked agammaglobulinemia.
Mol Immunol
; 45(4): 1094-8, 2008 Feb.
Article
en En
| MEDLINE
| ID: mdl-17765309
ABSTRACT
X-linked agammaglobulinemia (XLA) is a humoral primary immunodeficiency in which affected patients have very low levels of peripheral B cells and a profound deficiency of all immunoglobulin isotypes. Mutations in the gene encoding for Bruton's tyrosine kinase (Btk) are responsible for most of the agammaglobulinemia. In this work, 14 Btk mutations responsible of causing XLA are described; eight of which are novel and six are mutations previously reported. Seven of the mutations were due to deletions and insertions of exons and introns, respectively, which suggest splicing defects. The others were missense mutations, five of which affect arginine residues and have been described, and two new which affect leucine and glutamine residues (L111P and E605G). Most of these mutations were located at the kinase domain of Btk and, less frequently, they were found in PH and SH2 domains. Protein expression was also affected since most of the patients did not express or express very low Btk.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas Tirosina Quinasas
/
Agammaglobulinemia
/
Enfermedades Genéticas Ligadas al Cromosoma X
/
Ligamiento Genético
Límite:
Adolescent
/
Child
/
Child, preschool
/
Humans
País/Región como asunto:
Mexico
Idioma:
En
Revista:
Mol Immunol
Año:
2008
Tipo del documento:
Article
País de afiliación:
México