Literature DB >> 11445810

A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency.

P M Wood1, A Mayne, H Joyce, C I Smith, D M Granoff, D S Kumararatne.   

Abstract

Children and adults can have recurrent infection with invasive encapsulated bacterial pathogens such as Streptococcus pneumoniae as a result of a selective inability to respond to polysaccharide antigens. We have identified a mutation in the gene encoding Bruton's tyrosine kinase in a male patient with selective anti-polysaccharide antibody deficiency.

Entities:  

Mesh:

Substances:

Year:  2001        PMID: 11445810     DOI: 10.1067/mpd.2001.115970

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  16 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

Review 2.  Primary antibody deficiencies.

Authors:  Anne Durandy; Sven Kracker; Alain Fischer
Journal:  Nat Rev Immunol       Date:  2013-06-14       Impact factor: 53.106

Review 3.  The genetic basis of pneumococcal and staphylococcal infections: inborn errors of human TLR and IL-1R immunity.

Authors:  Bertrand Boisson
Journal:  Hum Genet       Date:  2020-01-24       Impact factor: 4.132

4.  XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts.

Authors:  Jeroen G Noordzij; Sandra de Bruin-Versteeg; Nico G Hartwig; Corry M R Weemaes; Egbert J A Gerritsen; Eva Bernatowska; Stefaan van Lierde; Ronald de Groot; Jacques J M van Dongen
Journal:  J Clin Immunol       Date:  2002-09       Impact factor: 8.317

5.  The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation.

Authors:  Arnon Broides; Amarilla B Mandola; Jacov Levy; Baruch Yerushalmi; Vered Pinsk; Michal Eldan; George Shubinsky; Nurit Hadad; Rachel Levy; Amit Nahum; Miriam Ben-Harosh; Atar Lev; Amos Simon; Raz Somech
Journal:  Immunol Res       Date:  2017-06       Impact factor: 2.829

Review 6.  Variable phenotypic expression of mutations in genes of the immune system.

Authors:  Rebecca H Buckley
Journal:  J Clin Invest       Date:  2005-11       Impact factor: 14.808

7.  IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.

Authors:  Cheng-Lung Ku; Capucine Picard; Melinda Erdös; Axel Jeurissen; Jacinta Bustamante; Anne Puel; Horst von Bernuth; Orchidée Filipe-Santos; Huey-Hsuan Chang; Tatiana Lawrence; Marc Raes; László Maródi; Xavier Bossuyt; Jean-Laurent Casanova
Journal:  J Med Genet       Date:  2006-09-01       Impact factor: 6.318

8.  The clinical syndrome of specific antibody deficiency in children.

Authors:  R J Boyle; C Le; A Balloch; M L-K Tang
Journal:  Clin Exp Immunol       Date:  2006-12       Impact factor: 4.330

9.  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 10.  Clinical immunology review series: an approach to the patient with recurrent infections in childhood.

Authors:  M A Slatter; A R Gennery
Journal:  Clin Exp Immunol       Date:  2008-03-28       Impact factor: 4.330

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.