Literature DB >> 17707910

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.   

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.

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Year:  2007        PMID： 17707910     DOI： 10.1016/j.molimm.2007.07.005

Source DB:  PubMed          Journal:  Mol Immunol        ISSN： 0161-5890            Impact factor:   4.407


  3 in total

1.  A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease.

Authors:  M E Conley; D M Farmer; A K Dobbs; V Howard; Y Aiba; S A Shurtleff; T Kurosaki
Journal:  Clin Exp Immunol       Date:  2008-01-28       Impact factor: 4.330

2.  What does it take to call it a pathogenic mutation?

Authors:  Thomas A Fleisher; Luigi D Notarangelo
Journal:  Clin Immunol       Date:  2008-07-09       Impact factor: 3.969

Review 3.  Genetics of hypogammaglobulinemia: what do we really know?

Authors:  Mary Ellen Conley
Journal:  Curr Opin Immunol       Date:  2009-08-03       Impact factor: 7.486
  3 in total

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