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The Journal of Allergy and Clinical Immunology|October 22, 2013
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficienciesIsaac J Nijman, Joris M van Montfrans, Marlous Hoogstraat, et al.Blood|May 21, 2013
Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutationsXi Wen Zhao, Roel P Gazendam, Agata Drewniak, et al.Journal of Human Immunity|May 22, 2026
Managing non-SCID T cell lymphopenia after TREC-based newborn screeningAnnelotte J Duintjer, Robbert G M Bredius, J Merlijn van den Berg, et al.Immunity|May 1, 2026
NK cell dysfunction and interferon gamma production underlie autoinflammation in mevalonate kinase deficiencyMarcia A Munoz, Iona S Schuster, James Cremasco, et al.Hemasphere|January 22, 2025
Detection of clinically relevant variants in the <i>TP53</i> gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLLSarka Pavlova, Jitka Malcikova, Lenka Radova, et al.Pageof 2