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A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells.
Kuijpers TW, van Leeuwen EM, Barendregt BH, Klarenbeek P, aan de Kerk DJ, Baars PA, Jansen MH, de Vries N, van Lier RA, van der Burg M. Kuijpers TW, et al. Among authors: van lier ra, van leeuwen em, van der burg m. Haematologica. 2013 Jul;98(7):1030-8. doi: 10.3324/haematol.2012.077511. Epub 2013 Feb 12. Haematologica. 2013. PMID: 23403317 Free PMC article.
CXCR5+CD4+ follicular helper T cells accumulate in resting human lymph nodes and have superior B cell helper activity.
Havenith SH, Remmerswaal EB, Idu MM, van Donselaar-van der Pant KA, van der Bom N, Bemelman FJ, van Leeuwen EM, ten Berge IJ, van Lier RA. Havenith SH, et al. Among authors: van lier ra, van der bom n, van leeuwen em, van donselaar van der pant ka. Int Immunol. 2014 Mar;26(3):183-92. doi: 10.1093/intimm/dxt058. Epub 2013 Nov 29. Int Immunol. 2014. PMID: 24291746
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: van leeuwen emm. 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.
134 results