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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. Among authors: derfalvi b. Clin Immunol. 2024 Nov;268:110375. doi: 10.1016/j.clim.2024.110375. Epub 2024 Oct 5. Clin Immunol. 2024. PMID: 39369972 Free article.
Humoral and cell-mediated immune responses to COVID-19 vaccines up to 6 months post three-dose primary series in adults with inborn errors of immunity and their breakthrough infections.
Unninayar D, Falcone EL, Chapdelaine H, Vinh DC, Top KA, Derfalvi B, Issekutz TB, Decaluwe H, Pham-Huy A, Upton J, Betschel SD, Rubin T, Suresh S, Wright NAM, Murguía-Favela L, Kalashnikova T, Barrett L, Oldford S, Langlois MA, Arnold C, Sadarangani M, Zhang T, Ramsay T, Yazji D, Cowan J. Unninayar D, et al. Among authors: derfalvi b. Front Immunol. 2025 Jan 21;15:1501908. doi: 10.3389/fimmu.2024.1501908. eCollection 2024. Front Immunol. 2025. PMID: 39906736 Free PMC article.
Inborn errors of immunity (primary immunodeficiencies).
Kim VHD, Upton JEM, Derfalvi B, Hildebrand KJ, McCusker C. Kim VHD, et al. Among authors: derfalvi b. Allergy Asthma Clin Immunol. 2025 Jan 8;20(Suppl 3):76. doi: 10.1186/s13223-024-00938-z. Allergy Asthma Clin Immunol. 2025. PMID: 39780212 Free PMC article. Review.
Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) functional deficiency caused by biallelic LRBA missense variants characterized by Evans syndrome or colitis.
Chiang SCC, Yang L, Owsley E, Husami A, Akeno N, Cobb C, Hartog NL, Elizalde A, Seroogy CM, Blanchard-Rohner G, Peng XP, Brager R, Buchbinder D, Cook E, Phillips L, Maricic S, Kalashnikova T, Derfalvi B, Dimitriades VR, Murguía-Favela LE, Gutierrez MJ, Shrikhande A, Steele M, Wilson JL, Wright NAM, Marsh R, Bleesing J, Jordan MB, Marwaha AK. Chiang SCC, et al. Among authors: derfalvi b. J Allergy Clin Immunol. 2025 Apr 10:S0091-6749(25)00384-7. doi: 10.1016/j.jaci.2025.04.003. Online ahead of print. J Allergy Clin Immunol. 2025. PMID: 40220912
Immunological effects and safety of live rotavirus vaccination after antenatal exposure to immunomodulatory biologic agents: a prospective cohort study from the Canadian Immunization Research Network.
Fitzpatrick T, Alsager K, Sadarangani M, Pham-Huy A, Murguía-Favela L, Morris SK, Seow CH, Piché-Renaud PP, Jadavji T, Vanderkooi OG, Top KA, Constantinescu C; Special Immunization Clinic Network investigators. Fitzpatrick T, et al. Lancet Child Adolesc Health. 2023 Sep;7(9):648-656. doi: 10.1016/S2352-4642(23)00136-0. Epub 2023 Jun 27. Lancet Child Adolesc Health. 2023. PMID: 37390832
Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability.
Graefe ASL, Rehburg F, Alkarkoukly S, Danis D, Grönke A, Hübner MR, Bartschke A, Debertshäuser T, Klopfenstein SAI, Saß J, Fleck J, Rehberg M, Zschüntzsch J, Nyoungui EF, Kalashnikova T, Murguía-Favela L, Derfalvi B, Wright NAM, Moosa S, Ogishima S, Semler O, Wiegand S, Kühnen P, Mungall CJ, Haendel MA, Robinson PN, Thun S, Beyan O. Graefe ASL, et al. Among authors: derfalvi b. medRxiv [Preprint]. 2025 May 11:2025.05.09.25327342. doi: 10.1101/2025.05.09.25327342. medRxiv. 2025. PMID: 40385395 Free PMC article. Preprint.
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