{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["6(13)"],"submitter":["Compeer EB"],"pubmed_abstract":["Common Variable Immunodeficiency (CVID) is the most prevalent primary antibody deficiency, and characterized by defective generation of high-affinity antibodies. Patients have therefore increased risk to recurrent infections of the respiratory and intestinal tract. Development of high-affinity antigen-specific antibodies involves two key actions of B-cell receptors (BCR): transmembrane signaling through BCR-complexes to induce B-cell differentiation and proliferation, and BCR-mediated antigen internalization for class-II MHC-mediated presentation to acquire antigen-specific CD4(+) T-cell help.We identified a variant (L3P) in the B-lymphoid tyrosine kinase (BLK) gene of 2 related CVID-patients, which was absent in healthy relatives. BLK belongs to the Src-kinases family and involved in BCR-"],"journal":["Oncotarget"],"pagination":["10759-71"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4484417"],"repository":["biostudies-literature"],"pubmed_title":["Dysfunctional BLK in common variable immunodeficiency perturbs B-cell proliferation and ability to elicit antigen-specific CD4+ T-cell help."],"pmcid":["PMC4484417"],"pubmed_authors":["Compeer EB","van Royen-Kerkhof A","van Gijn M","van Montfrans JM","Boes M","Janssen W"],"additional_accession":[]},"is_claimable":false,"name":"Dysfunctional BLK in common variable immunodeficiency perturbs B-cell proliferation and ability to elicit antigen-specific CD4+ T-cell help.","description":"Common Variable Immunodeficiency (CVID) is the most prevalent primary antibody deficiency, and characterized by defective generation of high-affinity antibodies. Patients have therefore increased risk to recurrent infections of the respiratory and intestinal tract. Development of high-affinity antigen-specific antibodies involves two key actions of B-cell receptors (BCR): transmembrane signaling through BCR-complexes to induce B-cell differentiation and proliferation, and BCR-mediated antigen internalization for class-II MHC-mediated presentation to acquire antigen-specific CD4(+) T-cell help.We identified a variant (L3P) in the B-lymphoid tyrosine kinase (BLK) gene of 2 related CVID-patients, which was absent in healthy relatives. BLK belongs to the Src-kinases family and involved in BCR-","dates":{"release":"2015-01-01T00:00:00Z","publication":"2015 May","modification":"2025-04-22T09:56:09.191Z","creation":"2019-03-27T01:54:10Z"},"accession":"S-EPMC4484417","cross_references":{"pubmed":["25926555"],"doi":["10.18632/oncotarget.3577"]}}