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Impaired STING Activation Due to a Variant in the E3 Ubiquitin Ligase AMFR in a Patient with Severe VZV Infection and Hemophagocytic Lymphohistiocytosis.
Thomsen MM, Skouboe MK, Møhlenberg M, Zhao J, de Keukeleere K, Heinz JL, Werner M, Hollensen AK, Lønskov J, Nielsen I, Carter-Timofte ME, Zhang B, Mikkelsen JG, Fisker N, Paludan SR, Assing K, Mogensen TH. Thomsen MM, et al. Among authors: de keukeleere k. J Clin Immunol. 2024 Jan 26;44(2):56. doi: 10.1007/s10875-024-01653-5. J Clin Immunol. 2024. PMID: 38277122 Free PMC article.
Whole exome sequencing of patients with varicella-zoster virus and herpes simplex virus induced acute retinal necrosis reveals rare disease-associated genetic variants.
Heinz JL, Swagemakers SMA, von Hofsten J, Helleberg M, Thomsen MM, De Keukeleere K, de Boer JH, Ilginis T, Verjans GMGM, van Hagen PM, van der Spek PJ, Mogensen TH. Heinz JL, et al. Among authors: de keukeleere k. Front Mol Neurosci. 2023 Oct 25;16:1253040. doi: 10.3389/fnmol.2023.1253040. eCollection 2023. Front Mol Neurosci. 2023. PMID: 38025266 Free PMC article.
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity.
Assing K, Jørgensen SE, Sandgaard KS, De Keukeleere K, B-Hansen M, Petersen MS, Hartling UB, Vaal TMK, Nielsen C, Jakobsen MA, Watt E, Adams S, Hao Q, Fagerberg C, Mogensen TH. Assing K, et al. Among authors: de keukeleere k. J Clin Immunol. 2023 Nov;43(8):1927-1940. doi: 10.1007/s10875-023-01561-0. Epub 2023 Aug 15. J Clin Immunol. 2023. PMID: 37581646 Free PMC article.
12 results