{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Li Y"],"funding":["NIAID NIH HHS","National Institute of Health"],"pagination":["68-74"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9974537"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["33(1)"],"pubmed_abstract":["<h4>Objective</h4>We aimed to develop accurate and user-friendly genetic assays to identify the inherited neutrophil antigen-2 (HNA-2) deficiency in humans.<h4>Background</h4>HNA-2 is one of the most important neutrophil antigens implicated in a number of human disorders. HNA-2 deficiency or HNA-2 null is a common phenotype observed in 3%-5% Americans. HNA-2 null individuals are at risk to produce isoantibodies (or alloantibodies) that play important roles in transfusion-related acute lung injury, immune neutropenia, and bone marrow graft failure. We previously demonstrated that the CD177 coding SNP 787A > T (c.787A > T) is the most important genetic determinant for HNA-2 deficiency. However, reliable genetic assays are not available for routine clinical laboratory application up to now.<h"],"journal":["Transfusion medicine (Oxford, England)"],"pubmed_title":["An accurate genetic assay to identify human neutrophil antigen 2 deficiency."],"pmcid":["PMC9974537"],"funding_grant_id":["R21 AI149395","R21AI149395"],"pubmed_authors":["Wu J","Li Y","Schuller RM"],"additional_accession":[]},"is_claimable":false,"name":"An accurate genetic assay to identify human neutrophil antigen 2 deficiency.","description":"<h4>Objective</h4>We aimed to develop accurate and user-friendly genetic assays to identify the inherited neutrophil antigen-2 (HNA-2) deficiency in humans.<h4>Background</h4>HNA-2 is one of the most important neutrophil antigens implicated in a number of human disorders. HNA-2 deficiency or HNA-2 null is a common phenotype observed in 3%-5% Americans. HNA-2 null individuals are at risk to produce isoantibodies (or alloantibodies) that play important roles in transfusion-related acute lung injury, immune neutropenia, and bone marrow graft failure. We previously demonstrated that the CD177 coding SNP 787A > T (c.787A > T) is the most important genetic determinant for HNA-2 deficiency. However, reliable genetic assays are not available for routine clinical laboratory application up to now.<h","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Feb","modification":"2025-04-26T11:57:18.145Z","creation":"2025-02-19T04:59:55.583Z"},"accession":"S-EPMC9974537","cross_references":{"pubmed":["36308061"],"doi":["10.1111/tme.12936"]}}