Skip to main content
Top
Published in: Journal of Clinical Immunology 1/2019

01-01-2019 | Letter to Editor

Damaging BTK Variant Demonstrated by Carrier, Allele-Specific BTK Expression in B Cells and Monocytes

Authors: Mary T. Bausch-Jurken, Mary Hintermeyer, Jeffrey Woodliff, Shaoying Chen, Amy Rymaszewski, James Verbsky, John Routes

Published in: Journal of Clinical Immunology | Issue 1/2019

Login to get access

Excerpt

To the Editor: …
Appendix
Available only for authorised users
Literature
1.
2.
go back to reference Valiaho J, Smith CI, Vihinen M. BTKbase: the mutation database for X-linked agammaglobulinemia. Hum Mutat. 2006;27:1209–17.CrossRefPubMed Valiaho J, Smith CI, Vihinen M. BTKbase: the mutation database for X-linked agammaglobulinemia. Hum Mutat. 2006;27:1209–17.CrossRefPubMed
3.
go back to reference Lee PP, Chen TX, Jiang LP, Chan KW, Yang W, Lee BW, et al. Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia. J Clin Immunol. 2010;30:121–31.CrossRefPubMed Lee PP, Chen TX, Jiang LP, Chan KW, Yang W, Lee BW, et al. Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia. J Clin Immunol. 2010;30:121–31.CrossRefPubMed
4.
go back to reference Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–25.CrossRefPubMedPubMedCentral Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–25.CrossRefPubMedPubMedCentral
5.
go back to reference Lappalainen I, Thusberg J, Shen B, Vihinen M. Genome wide analysis of pathogenic SH2 domain mutations. Proteins. 2008;72:779–92.CrossRefPubMed Lappalainen I, Thusberg J, Shen B, Vihinen M. Genome wide analysis of pathogenic SH2 domain mutations. Proteins. 2008;72:779–92.CrossRefPubMed
6.
go back to reference Tzeng SR, Pai MT, Lung FD, Wu CW, Roller PP, Lei B, et al. Stability and peptide binding specificity of Btk SH2 domain: molecular basis for X-linked agammaglobulinemia. Protein Sci. 2000;9:2377–85.CrossRefPubMedPubMedCentral Tzeng SR, Pai MT, Lung FD, Wu CW, Roller PP, Lei B, et al. Stability and peptide binding specificity of Btk SH2 domain: molecular basis for X-linked agammaglobulinemia. Protein Sci. 2000;9:2377–85.CrossRefPubMedPubMedCentral
Metadata
Title
Damaging BTK Variant Demonstrated by Carrier, Allele-Specific BTK Expression in B Cells and Monocytes
Authors
Mary T. Bausch-Jurken
Mary Hintermeyer
Jeffrey Woodliff
Shaoying Chen
Amy Rymaszewski
James Verbsky
John Routes
Publication date
01-01-2019
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 1/2019
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-019-0591-6

Other articles of this Issue 1/2019

Journal of Clinical Immunology 1/2019 Go to the issue