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Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections.
Wentink M, Dalm V, Lankester AC, van Schouwenburg PA, Schölvinck L, Kalina T, Zachova R, Sediva A, Lambeck A, Pico-Knijnenburg I, van Dongen JJ, Pac M, Bernatowska E, van Hagen M, Driessen G, van der Burg M. Wentink M, et al. Among authors: van dongen jj, van schouwenburg pa, van hagen m, van der burg m. Clin Immunol. 2017 Mar;176:77-86. doi: 10.1016/j.clim.2017.01.004. Epub 2017 Jan 17. Clin Immunol. 2017. PMID: 28104464
The TH1 phenotype of follicular helper T cells indicates an IFN-γ-associated immune dysregulation in patients with CD21low common variable immunodeficiency.
Unger S, Seidl M, van Schouwenburg P, Rakhmanov M, Bulashevska A, Frede N, Grimbacher B, Pfeiffer J, Schrenk K, Munoz L, Hanitsch L, Stumpf I, Kaiser F, Hausmann O, Kollert F, Goldacker S, van der Burg M, Keller B, Warnatz K. Unger S, et al. J Allergy Clin Immunol. 2018 Feb;141(2):730-740. doi: 10.1016/j.jaci.2017.04.041. Epub 2017 May 26. J Allergy Clin Immunol. 2018. PMID: 28554560 Clinical Trial.
A kindred with mutant IKAROS and autoimmunity.
Van Nieuwenhove E, Garcia-Perez JE, Helsen C, Rodriguez PD, van Schouwenburg PA, Dooley J, Schlenner S, van der Burg M, Verhoeyen E, Gijsbers R, Frietze S, Schjerven H, Meyts I, Claessens F, Humblet-Baron S, Wouters C, Liston A. Van Nieuwenhove E, et al. Among authors: van schouwenburg pa, van der burg m. J Allergy Clin Immunol. 2018 Aug;142(2):699-702.e12. doi: 10.1016/j.jaci.2018.04.008. Epub 2018 Apr 27. J Allergy Clin Immunol. 2018. PMID: 29705243 Free PMC article.
Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans.
IJspeert H, van Schouwenburg PA, Pico-Knijnenburg I, Loeffen J, Brugieres L, Driessen GJ, Blattmann C, Suerink M, Januszkiewicz-Lewandowska D, Azizi AA, Seidel MG, Jacobs H, van der Burg M. IJspeert H, et al. Among authors: van schouwenburg pa. Front Immunol. 2019 Aug 27;10:1913. doi: 10.3389/fimmu.2019.01913. eCollection 2019. Front Immunol. 2019. PMID: 31507588 Free PMC article.
ATM: Translating the DNA Damage Response to Adaptive Immunity.
Weitering TJ, Takada S, Weemaes CMR, van Schouwenburg PA, van der Burg M. Weitering TJ, et al. Among authors: van schouwenburg pa. Trends Immunol. 2021 Apr;42(4):350-365. doi: 10.1016/j.it.2021.02.001. Epub 2021 Mar 1. Trends Immunol. 2021. PMID: 33663955 Review.
Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.
Framme JL, Lundqvist C, Lundell AC, van Schouwenburg PA, Lemarquis AL, Thörn K, Lindgren S, Gudmundsdottir J, Lundberg V, Degerman S, Zetterström RH, Borte S, Hammarström L, Telemo E, Hultdin M, van der Burg M, Fasth A, Oskarsdóttir S, Ekwall O. Framme JL, et al. Among authors: van schouwenburg pa. J Clin Immunol. 2022 Apr;42(3):618-633. doi: 10.1007/s10875-021-01201-5. Epub 2022 Jan 26. J Clin Immunol. 2022. PMID: 35080750 Free PMC article.
33 results