| http://purl.uniprot.org/citations/36104364 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/36104364 | http://www.w3.org/2000/01/rdf-schema#comment | "Inborn errors of immunity are known to cause not only immunodeficiencies and allergies but also autoimmunity. Leukocyte immunoglobulin-like receptor B1 (LILRB1) is a receptor on leukocytes playing a role in regulating immune responses. No phenotypes have been reported to be caused by germline mutations in LILRB1. We aimed to identify the causative variant in a three-generation family with nine members suffering from one of the three autoimmune diseases-Graves' disease, Hashimoto's thyroiditis, or systemic lupus erythematosus. Whole-genome linkage study revealed a locus on chromosome 19q13.4 with the maximum LOD score of 2.71. Whole-exome sequencing identified a heterozygous missense variant, c.479G > A (p. G160E) in LILRB1, located within the chromosomal-linked region, in all nine affected members. The variant has never been previously reported. Jurkat cells transfected with the mutant LILRB1, compared with those with the wild-type LILRB1, showed decreased phosphorylation of both LILRB1 and its downstream protein, SHP-1. Flow cytometry was used to study immunophenotype and revealed that LILRB1 was significantly lower on the surface of activated regulatory T lymphocytes (Treg) cells of patients. Single-cell RNA sequencing showed substantially increased M1-like monocytes in peripheral blood mononuclear cells of affected individuals. This study, for the first time, implicates LILRB1 as a new disease gene for autoimmunity."xsd:string |
| http://purl.uniprot.org/citations/36104364 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41598-022-19334-x"xsd:string |
| http://purl.uniprot.org/citations/36104364 | http://purl.uniprot.org/core/author | "Shotelersuk V."xsd:string |
| http://purl.uniprot.org/citations/36104364 | http://purl.uniprot.org/core/author | "Suphapeetiporn K."xsd:string |
| http://purl.uniprot.org/citations/36104364 | http://purl.uniprot.org/core/author | "Tongkobpetch S."xsd:string |
| http://purl.uniprot.org/citations/36104364 | http://purl.uniprot.org/core/author | "Srichomthong C."xsd:string |
| http://purl.uniprot.org/citations/36104364 | http://purl.uniprot.org/core/author | "Assawapitaksakul A."xsd:string |
| http://purl.uniprot.org/citations/36104364 | http://purl.uniprot.org/core/author | "Palaga T."xsd:string |
| http://purl.uniprot.org/citations/36104364 | http://purl.uniprot.org/core/author | "Buranapraditkun S."xsd:string |
| http://purl.uniprot.org/citations/36104364 | http://purl.uniprot.org/core/author | "Hirankarn N."xsd:string |
| http://purl.uniprot.org/citations/36104364 | http://purl.uniprot.org/core/author | "Sinthuwiwat T."xsd:string |
| http://purl.uniprot.org/citations/36104364 | http://purl.uniprot.org/core/author | "Phokaew C."xsd:string |
| http://purl.uniprot.org/citations/36104364 | http://purl.uniprot.org/core/author | "Kueanjinda P."xsd:string |
| http://purl.uniprot.org/citations/36104364 | http://purl.uniprot.org/core/author | "Boonpiyathad T."xsd:string |
| http://purl.uniprot.org/citations/36104364 | http://purl.uniprot.org/core/author | "Kamolvisit W."xsd:string |
| http://purl.uniprot.org/citations/36104364 | http://purl.uniprot.org/core/author | "Chetruengchai W."xsd:string |
| http://purl.uniprot.org/citations/36104364 | http://purl.uniprot.org/core/date | "2022"xsd:gYear |
| http://purl.uniprot.org/citations/36104364 | http://purl.uniprot.org/core/name | "Sci Rep"xsd:string |
| http://purl.uniprot.org/citations/36104364 | http://purl.uniprot.org/core/pages | "15420"xsd:string |
| http://purl.uniprot.org/citations/36104364 | http://purl.uniprot.org/core/title | "A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases."xsd:string |
| http://purl.uniprot.org/citations/36104364 | http://purl.uniprot.org/core/volume | "12"xsd:string |
| http://purl.uniprot.org/citations/36104364 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/36104364 |
| http://purl.uniprot.org/citations/36104364 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/36104364 |
| http://purl.uniprot.org/uniprot/#_A0A0G2JNM2-mappedCitation-36104364 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/36104364 |