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Practical challenges for functional validation of STAT1 gain of function genetic variants.
Albuquerque AS, Maimaris J, McKenna AJ, Lambourne J, Moreira F, Workman S, Megy K, Simeoni I, Lango Allen H; NIHR BioResource-Rare Disease Consortium; Morris EC, Burns SO. Albuquerque AS, et al. Among authors: workman s. Clin Exp Immunol. 2023 Apr 25;212(2):166-169. doi: 10.1093/cei/uxad008. Clin Exp Immunol. 2023. PMID: 36722341 Free PMC article. No abstract available.
Gene therapy for Wiskott-Aldrich syndrome in a severely affected adult.
Morris EC, Fox T, Chakraverty R, Tendeiro R, Snell K, Rivat C, Grace S, Gilmour K, Workman S, Buckland K, Butler K, Chee R, Salama AD, Ibrahim H, Hara H, Duret C, Mavilio F, Male F, Bushman FD, Galy A, Burns SO, Gaspar HB, Thrasher AJ. Morris EC, et al. Among authors: workman s. Blood. 2017 Sep 14;130(11):1327-1335. doi: 10.1182/blood-2017-04-777136. Epub 2017 Jul 17. Blood. 2017. PMID: 28716862 Free PMC article.
Respiratory Infections and Antibiotic Usage in Common Variable Immunodeficiency.
Sperlich JM, Grimbacher B, Workman S, Haque T, Seneviratne SL, Burns SO, Reiser V, Vach W, Hurst JR, Lowe DM. Sperlich JM, et al. Among authors: workman s. J Allergy Clin Immunol Pract. 2018 Jan-Feb;6(1):159-168.e3. doi: 10.1016/j.jaip.2017.05.024. Epub 2017 Jul 19. J Allergy Clin Immunol Pract. 2018. PMID: 28734862 Free PMC article.
Successful outcome following allogeneic hematopoietic stem cell transplantation in adults with primary immunodeficiency.
Fox TA, Chakraverty R, Burns S, Carpenter B, Thomson K, Lowe D, Fielding A, Peggs K, Kottaridis P, Uttenthal B, Bigley V, Buckland M, Grandage V, Denovan S, Grace S, Dahlstrom J, Workman S, Symes A, Mackinnon S, Hough R, Morris E. Fox TA, et al. Among authors: workman s. Blood. 2018 Feb 22;131(8):917-931. doi: 10.1182/blood-2017-09-807487. Epub 2017 Dec 26. Blood. 2018. PMID: 29279357 Free PMC article.
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. 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.
159 results