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1,033 results

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Page 1
Characterization of T and B cell repertoire diversity in patients with RAG deficiency.
Lee YN, Frugoni F, Dobbs K, Tirosh I, Du L, Ververs FA, Ru H, Ott de Bruin L, Adeli M, Bleesing JH, Buchbinder D, Butte MJ, Cancrini C, Chen K, Choo S, Elfeky RA, Finocchi A, Fuleihan RL, Gennery AR, El-Ghoneimy DH, Henderson LA, Al-Herz W, Hossny E, Nelson RP, Pai SY, Patel NC, Reda SM, Soler-Palacin P, Somech R, Palma P, Wu H, Giliani S, Walter JE, Notarangelo LD. Lee YN, et al. Among authors: choo s. Sci Immunol. 2016 Dec 16;1(6):eaah6109. doi: 10.1126/sciimmunol.aah6109. Epub 2016 Dec 16. Sci Immunol. 2016. PMID: 28783691 Free PMC article.
RAG1 reversion mosaicism in a patient with Omenn syndrome.
Crestani E, Choo S, Frugoni F, Lee YN, Richards S, Smart J, Notarangelo LD. Crestani E, et al. Among authors: choo s. J Clin Immunol. 2014 Jul;34(5):551-4. doi: 10.1007/s10875-014-0051-2. Epub 2014 May 10. J Clin Immunol. 2014. PMID: 24817258 Free PMC article.
Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells.
Bier J, Rao G, Payne K, Brigden H, French E, Pelham SJ, Lau A, Lenthall H, Edwards ESJ, Smart JM, Cole TS, Choo S, Joshi AY, Abraham RS, O'Sullivan M, Boztug K, Meyts I, Gray PE, Berglund LJ, Hsu P, Wong M, Holland SM, Notarangelo LD, Uzel G, Ma CS, Brink R, Tangye SG, Deenick EK. Bier J, et al. Among authors: choo s. J Allergy Clin Immunol. 2019 Jul;144(1):236-253. doi: 10.1016/j.jaci.2019.01.033. Epub 2019 Feb 6. J Allergy Clin Immunol. 2019. PMID: 30738173 Free PMC article.
Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus.
Palendira U, Low C, Bell AI, Ma CS, Abbott RJ, Phan TG, Riminton DS, Choo S, Smart JM, Lougaris V, Giliani S, Buckley RH, Grimbacher B, Alvaro F, Klion AD, Nichols KE, Adelstein S, Rickinson AB, Tangye SG. Palendira U, et al. Among authors: choo s. J Exp Med. 2012 May 7;209(5):913-24. doi: 10.1084/jem.20112391. Epub 2012 Apr 9. J Exp Med. 2012. PMID: 22493517 Free PMC article.
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.
Booth C, Gilmour KC, Veys P, Gennery AR, Slatter MA, Chapel H, Heath PT, Steward CG, Smith O, O'Meara A, Kerrigan H, Mahlaoui N, Cavazzana-Calvo M, Fischer A, Moshous D, Blanche S, Pachlopnik Schmid J, Latour S, de Saint-Basile G, Albert M, Notheis G, Rieber N, Strahm B, Ritterbusch H, Lankester A, Hartwig NG, Meyts I, Plebani A, Soresina A, Finocchi A, Pignata C, Cirillo E, Bonanomi S, Peters C, Kalwak K, Pasic S, Sedlacek P, Jazbec J, Kanegane H, Nichols KE, Hanson IC, Kapoor N, Haddad E, Cowan M, Choo S, Smart J, Arkwright PD, Gaspar HB. Booth C, et al. Among authors: choo s. Blood. 2011 Jan 6;117(1):53-62. doi: 10.1182/blood-2010-06-284935. Epub 2010 Oct 6. Blood. 2011. PMID: 20926771 Free PMC article.
Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production.
Lau A, Avery DT, Jackson K, Lenthall H, Volpi S, Brigden H, Russell AJ, Bier J, Reed JH, Smart JM, Cole T, Choo S, Gray PE, Berglund LJ, Hsu P, Wong M, O'Sullivan M, Boztug K, Meyts I, Uzel G, Notarangelo LD, Brink R, Goodnow CC, Tangye SG, Deenick EK. Lau A, et al. Among authors: choo s. J Exp Med. 2020 Feb 3;217(2):e20191336. doi: 10.1084/jem.20191336. J Exp Med. 2020. PMID: 31841125 Free PMC article.
Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.
Alkhairy OK, Perez-Becker R, Driessen GJ, Abolhassani H, van Montfrans J, Borte S, Choo S, Wang N, Tesselaar K, Fang M, Bienemann K, Boztug K, Daneva A, Mechinaud F, Wiesel T, Becker C, Dückers G, Siepermann K, van Zelm MC, Rezaei N, van der Burg M, Aghamohammadi A, Seidel MG, Niehues T, Hammarström L. Alkhairy OK, et al. Among authors: choo s. J Allergy Clin Immunol. 2015 Sep;136(3):703-712.e10. doi: 10.1016/j.jaci.2015.02.022. Epub 2015 Apr 3. J Allergy Clin Immunol. 2015. PMID: 25843314
Reduced-Intensity/Reduced-Toxicity Conditioning Approaches Are Tolerated in XIAP Deficiency but Patients Fare Poorly with Acute GVHD.
Arnold DE, Nofal R, Wakefield C, Lehmberg K, Wustrau K, Albert MH, Morris EC, Heimall JR, Bunin NJ, Kumar A, Jordan MB, Cole T, Choo S, Brettig T, Speckmann C, Ehl S, Salamonowicz M, Wahlstrom J, Rao K, Booth C, Worth A, Marsh RA. Arnold DE, et al. Among authors: choo s. J Clin Immunol. 2022 Jan;42(1):36-45. doi: 10.1007/s10875-021-01103-6. Epub 2021 Sep 29. J Clin Immunol. 2022. PMID: 34586554 Free PMC article.
1,033 results