| http://purl.uniprot.org/citations/32194234 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32194234 | http://www.w3.org/2000/01/rdf-schema#comment | "Biallelic variants in BLNK cause primary B-cell immunodeficiency that usually results in absence of B cells and immunoglobulin. Here, we identified disease-causing variant(s) in two unrelated Chinese patients with agammaglobulinemia. Patient 1 showed a moderate reduction in total B-cell count but demonstrated both extremely low levels of memory B-cells and lower levels of memory T cells relative to those in healthy controls. Whole-exome sequencing (WES) revealed a novel heterozygous splice variant (c.676+1G>A), and suggested exon 9 deletion from BLNK, which was subsequently validated by quantitative polymerase chain reaction. For Patient 2, WES revealed novel compound heterozygous of a frameshift variant (p.T152Pfs*6) and a synonymous variant (c.525G>A) that resulted in exon 6 skipping, according to cDNA sequencing. These findings represent the first report of a BLNK-deficient patient presenting with impaired memory B-cell and memory T-cell development. Furthermore, this study is the first reporting a pathogenic synonymous splice variant in BLNK."xsd:string |
| http://purl.uniprot.org/citations/32194234 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.clim.2020.108387"xsd:string |
| http://purl.uniprot.org/citations/32194234 | http://purl.uniprot.org/core/author | "Li G."xsd:string |
| http://purl.uniprot.org/citations/32194234 | http://purl.uniprot.org/core/author | "Li N."xsd:string |
| http://purl.uniprot.org/citations/32194234 | http://purl.uniprot.org/core/author | "Wu J."xsd:string |
| http://purl.uniprot.org/citations/32194234 | http://purl.uniprot.org/core/author | "Wu Y."xsd:string |
| http://purl.uniprot.org/citations/32194234 | http://purl.uniprot.org/core/author | "Wang J."xsd:string |
| http://purl.uniprot.org/citations/32194234 | http://purl.uniprot.org/core/author | "Zhang J."xsd:string |
| http://purl.uniprot.org/citations/32194234 | http://purl.uniprot.org/core/author | "Xu Y."xsd:string |
| http://purl.uniprot.org/citations/32194234 | http://purl.uniprot.org/core/author | "Zhou Y."xsd:string |
| http://purl.uniprot.org/citations/32194234 | http://purl.uniprot.org/core/author | "Yao R."xsd:string |
| http://purl.uniprot.org/citations/32194234 | http://purl.uniprot.org/core/author | "Yin Y."xsd:string |
| http://purl.uniprot.org/citations/32194234 | http://purl.uniprot.org/core/author | "Yu T."xsd:string |
| http://purl.uniprot.org/citations/32194234 | http://purl.uniprot.org/core/author | "Yin L."xsd:string |
| http://purl.uniprot.org/citations/32194234 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/32194234 | http://purl.uniprot.org/core/name | "Clin Immunol"xsd:string |
| http://purl.uniprot.org/citations/32194234 | http://purl.uniprot.org/core/pages | "108387"xsd:string |
| http://purl.uniprot.org/citations/32194234 | http://purl.uniprot.org/core/title | "Further delineation of primary B cell immunodeficiency caused by novel variants of the BLNK gene in two Chinese patients."xsd:string |
| http://purl.uniprot.org/citations/32194234 | http://purl.uniprot.org/core/volume | "214"xsd:string |
| http://purl.uniprot.org/citations/32194234 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/32194234 |
| http://purl.uniprot.org/citations/32194234 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/32194234 |
| http://purl.uniprot.org/uniprot/#_B3KNL5-mappedCitation-32194234 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32194234 |
| http://purl.uniprot.org/uniprot/#_Q2MD39-mappedCitation-32194234 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32194234 |
| http://purl.uniprot.org/uniprot/#_Q2MD40-mappedCitation-32194234 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32194234 |