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Page 1
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
Vorsteveld EE, Van der Made CI, Smeekens SP, Schuurs-Hoeijmakers JH, Astuti G, Diepstra H, Gilissen C, Hoenselaar E, Janssen A, van Roozendaal K, Engelen JS, Steyaert W, Weiss MM, Yntema HG, Mantere T, AlZahrani MS, van Aerde K, Derfalvi B, Faqeih EA, Henriet SSV, van Hoof E, Idressi E, Issekutz TB, Jongmans MCJ, Keski-Filppula R, Krapels I, Te Loo M, Mulders-Manders CM, Ten Oever J, Potjewijd J, Sarhan NT, Slot MC, Terhal PA, Thijs H, Vandersteen A, Vanhoutte EK, van de Veerdonk F, van Well G, Netea MG; all members of the Radboud University Medical Center multidisciplinary immune-disease board; Simons A, Hoischen A. Vorsteveld EE, et al. Clin Immunol. 2024 Nov;268:110375. doi: 10.1016/j.clim.2024.110375. Epub 2024 Oct 5. Clin Immunol. 2024. PMID: 39369972 Free article.
Alpha1-antitrypsin impacts innate host-pathogen interactions with Candida albicans by stimulating fungal filamentation.
Jaeger M, Dietschmann A, Austermeier S, Dinçer S, Porschitz P, Vornholz L, Maas RJA, Sprenkeler EGG, Ruland J, Wirtz S, Azam T, Joosten LAB, Hube B, Netea MG, Dinarello CA, Gresnigt MS. Jaeger M, et al. Virulence. 2024 Dec;15(1):2333367. doi: 10.1080/21505594.2024.2333367. Epub 2024 Apr 10. Virulence. 2024. PMID: 38515333 Free PMC article.
Neutrophil specific granule and NETosis defects in gray platelet syndrome.
Aarts CEM, Downes K, Hoogendijk AJ, Sprenkeler EGG, Gazendam RP, Favier R, Favier M, Tool ATJ, van Hamme JL, Kostadima MA, Waller K, Zieger B, van Bergen MGJM, Langemeijer SMC, van der Reijden BA, Janssen H, van den Berg TK, van Bruggen R, Meijer AB, Ouwehand WH, Kuijpers TW. Aarts CEM, et al. Blood Adv. 2021 Jan 26;5(2):549-564. doi: 10.1182/bloodadvances.2020002442. Blood Adv. 2021. PMID: 33496751 Free PMC article.
Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees.
Sprenkeler EGG, Tool ATJ, Kreft IC, van Alphen FPJ; NBR-RD PID Consortium, NIHR BioResource; Seneviratne SL, Maimaris J, Luqmani A, van Leeuwen K, van Bruggen R, Burns SO, Kuijpers TW. Sprenkeler EGG, et al. Br J Haematol. 2020 Dec;191(5):930-934. doi: 10.1111/bjh.17081. Epub 2020 Sep 23. Br J Haematol. 2020. PMID: 32966608 No abstract available.
15 results