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A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
Volpi S, Cicalese MP, Tuijnenburg P, Tool ATJ, Cuadrado E, Abu-Halaweh M, Ahanchian H, Alzyoud R, Akdemir ZC, Barzaghi F, Blank A, Boisson B, Bottino C, Brigida I, Caorsi R, Casanova JL, Chiesa S, Chinn IK, Dückers G, Enders A, Erichsen HC, Forbes LR, Gambin T, Gattorno M, Karimiani EG, Giliani S, Gold MS, Jacobsen EM, Jansen MH, King JR, Laxer RM, Lupski JR, Mace E, Marcenaro S, Maroofian R, Meijer AB, Niehues T, Notarangelo LD, Orange J, Pannicke U, Pearson C, Picco P, Quinn PJ, Schulz A, Seeborg F, Stray-Pedersen A, Tawamie H, van Leeuwen EMM, Aiuti A, Yeung R, Schwarz K, Kuijpers TW. Volpi S, et al. Among authors: meijer ab. J Allergy Clin Immunol. 2019 Jun;143(6):2296-2299. doi: 10.1016/j.jaci.2019.02.003. Epub 2019 Feb 13. J Allergy Clin Immunol. 2019. PMID: 30771411 Free PMC article. No abstract available.
Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations.
Zhao XW, Gazendam RP, Drewniak A, van Houdt M, Tool AT, van Hamme JL, Kustiawan I, Meijer AB, Janssen H, Russell DG, van de Corput L, Tesselaar K, Boelens JJ, Kuhnle I, Van Der Werff Ten Bosch J, Kuijpers TW, van den Berg TK. Zhao XW, et al. Among authors: meijer ab. Blood. 2013 Jul 4;122(1):109-11. doi: 10.1182/blood-2013-03-494039. Epub 2013 May 17. Blood. 2013. PMID: 23687090 Free article.
Impaired killing of Candida albicans by granulocytes mobilized for transfusion purposes: a role for granule components.
Gazendam RP, van de Geer A, van Hamme JL, Tool AT, van Rees DJ, Aarts CE, van den Biggelaar M, van Alphen F, Verkuijlen P, Meijer AB, Janssen H, Roos D, van den Berg TK, Kuijpers TW. Gazendam RP, et al. Among authors: meijer ab. Haematologica. 2016 May;101(5):587-96. doi: 10.3324/haematol.2015.136630. Epub 2016 Jan 22. Haematologica. 2016. PMID: 26802050 Free PMC article.
Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency.
Kuijpers TW, Tool ATJ, van der Bijl I, de Boer M, van Houdt M, de Cuyper IM, Roos D, van Alphen F, van Leeuwen K, Cambridge EL, Arends MJ, Dougan G, Clare S, Ramirez-Solis R, Pals ST, Adams DJ, Meijer AB, van den Berg TK. Kuijpers TW, et al. Among authors: meijer ab. J Allergy Clin Immunol. 2017 Jul;140(1):273-277.e10. doi: 10.1016/j.jaci.2016.09.061. Epub 2016 Dec 10. J Allergy Clin Immunol. 2017. PMID: 27965109 No abstract available.
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.
Tuijnenburg P, Lango Allen H, Burns SO, Greene D, Jansen MH, Staples E, Stephens J, Carss KJ, Biasci D, Baxendale H, Thomas M, Chandra A, Kiani-Alikhan S, Longhurst HJ, Seneviratne SL, Oksenhendler E, Simeoni I, de Bree GJ, Tool ATJ, van Leeuwen EMM, Ebberink EHTM, Meijer AB, Tuna S, Whitehorn D, Brown M, Turro E, Thrasher AJ, Smith KGC, Thaventhiran JE, Kuijpers TW; NIHR BioResource–Rare Diseases Consortium. Tuijnenburg P, et al. Among authors: meijer ab. J Allergy Clin Immunol. 2018 Oct;142(4):1285-1296. doi: 10.1016/j.jaci.2018.01.039. Epub 2018 Mar 2. J Allergy Clin Immunol. 2018. PMID: 29477724 Free PMC article.
Activated neutrophils exert myeloid-derived suppressor cell activity damaging T cells beyond repair.
Aarts CEM, Hiemstra IH, Béguin EP, Hoogendijk AJ, Bouchmal S, van Houdt M, Tool ATJ, Mul E, Jansen MH, Janssen H, van Alphen FPJ, de Boer JP, Zuur CL, Meijer AB, van den Berg TK, Kuijpers TW. Aarts CEM, et al. Among authors: meijer ab. Blood Adv. 2019 Nov 26;3(22):3562-3574. doi: 10.1182/bloodadvances.2019031609. Blood Adv. 2019. PMID: 31738831 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. Among authors: meijer ab. Blood Adv. 2021 Jan 26;5(2):549-564. doi: 10.1182/bloodadvances.2020002442. Blood Adv. 2021. PMID: 33496751 Free PMC article.
89 results