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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.
PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.
Mathieu AL, Verronese E, Rice GI, Fouyssac F, Bertrand Y, Picard C, Chansel M, Walter JE, Notarangelo LD, Butte MJ, Nadeau KC, Csomos K, Chen DJ, Chen K, Delgado A, Rigal C, Bardin C, Schuetz C, Moshous D, Reumaux H, Plenat F, Phan A, Zabot MT, Balme B, Viel S, Bienvenu J, Cochat P, van der Burg M, Caux C, Kemp EH, Rouvet I, Malcus C, Méritet JF, Lim A, Crow YJ, Fabien N, Ménétrier-Caux C, De Villartay JP, Walzer T, Belot A. Mathieu AL, et al. Among authors: van der burg m. J Allergy Clin Immunol. 2015 Jun;135(6):1578-88.e5. doi: 10.1016/j.jaci.2015.01.040. Epub 2015 Apr 2. J Allergy Clin Immunol. 2015. PMID: 25842288 Free PMC article.
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. Among authors: van schouwenburg p, van der burg m. 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.
Identification of CVID Patients With Defects in Immune Repertoire Formation or Specification.
van Schouwenburg PA, IJspeert H, Pico-Knijnenburg I, Dalm VASH, van Hagen PM, van Zessen D, Stubbs AP, Patel SY, van der Burg M. van Schouwenburg PA, et al. Among authors: van hagen pm, van zessen d, van der burg m. Front Immunol. 2018 Nov 23;9:2545. doi: 10.3389/fimmu.2018.02545. eCollection 2018. Front Immunol. 2018. PMID: 30532750 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, van der burg m. 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, van der burg m. 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.
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
Haimel M, Pazmandi J, Heredia RJ, Dmytrus J, Bal SK, Zoghi S, van Daele P, Briggs TA, Wouters C, Bader-Meunier B, Aeschlimann FA, Caorsi R, Eleftheriou D, Hoppenreijs E, Salzer E, Bakhtiar S, Derfalvi B, Saettini F, Kusters MAA, Elfeky R, Trück J, Rivière JG, van der Burg M, Gattorno M, Seidel MG, Burns S, Warnatz K, Hauck F, Brogan P, Gilmour KC, Schuetz C, Simon A, Bock C, Hambleton S, de Vries E, Robinson PN, van Gijn M, Boztug K. Haimel M, et al. Among authors: van daele p, van der burg m, van gijn m. J Allergy Clin Immunol. 2022 Jan;149(1):369-378. doi: 10.1016/j.jaci.2021.04.033. Epub 2021 May 12. J Allergy Clin Immunol. 2022. PMID: 33991581 Free PMC article.
443 results