Identification of novel non-pathogenic mutation in SH3 domain of Btk in an XLA patient

Rebeca Pérez de Diego; Jerónimo Bravo; Luis M Allende; Eduardo López-Granados; José Rivera; Antonio Ferreira; Gumersindo Fontán; Maria Cruz García Rodríguez

doi:10.1016/j.molimm.2007.07.005

Identification of novel non-pathogenic mutation in SH3 domain of Btk in an XLA patient

Mol Immunol. 2008 Jan;45(1):301-3. doi: 10.1016/j.molimm.2007.07.005. Epub 2007 Aug 20.

Authors

Rebeca Pérez de Diego, Jerónimo Bravo, Luis M Allende, Eduardo López-Granados, José Rivera, Antonio Ferreira, Gumersindo Fontán, Maria Cruz García Rodríguez

PMID: 17707910
DOI: 10.1016/j.molimm.2007.07.005

Abstract

A first report of an XLA patient with a polymorphism in Btk SH3 domain has been identified after sequencing of the entire gene. SH3 domain variants might not be detected due to well characterized mutations outside the domain.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Agammaglobulinaemia Tyrosine Kinase
Agammaglobulinemia / enzymology*
Agammaglobulinemia / genetics*
Child, Preschool
Female
Genetic Diseases, X-Linked / enzymology*
Humans
Infant
Male
Mutation / genetics*
Pedigree
Protein Structure, Secondary
Protein-Tyrosine Kinases / chemistry*
Protein-Tyrosine Kinases / genetics*
src Homology Domains*

Substances

Protein-Tyrosine Kinases
Agammaglobulinaemia Tyrosine Kinase
BTK protein, human