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Professor Ken Smith's Group

Publications

Recent Publications:

  1. Stephenson, E., Reynolds, G., Botting, R.A., Calero-Nieto, F.J., Morgan, M.D., Tuong, KZ.K., Bach, K., Sungnak, W., Worlock. K. B., Yoshida, M., Kumasaka, N., Kania. K., Engelbert. J., Olabi. B., Spegarova, J.S.S., Wilson, N.K., Mende, N.M., Jardine, L., Gardner, L.C.S., Goh, I., Horsfall, D., McGrath. J., Webb, S., Mather, W.M.,   R.G.H., Dann, E., Huang, N., Polanski, K., Prigmore, E., Gothe, F., Scott, J., Payne, R.P., Baker, K.F., Hanrath, A.T., Schim van der Loeff, I.C.D., Barr, A.S., Sanchez-Gonzalez, A., Bergamaschi, L., Mescia, F., Barnes, J.L., Kilich, E.K., de Wilton, A., Saigal, A., Saleh, A., Janes, S.M., Smith, C.M., Gopee, N., Wilson, C., Coupland, P., Coxhead, J.M., Kiselev, V.Y., van Dongen, S., Bacardit, J., King, H.W., Cambridge Institute of Therapeutic Immunology and Infectious Disease-National Institute of Health Research (CITIID-NIHR) COVID BioResource Collaboration, Rostron, A.J., Simpson, A.J., Hambleton, S., Laurenti, E., Lyons, P.A., Kerstin B Meyer†, Nikolic†, M.Z., Duncan†, C.J.A., Smith†, K.G.C., Teichmann†, S.A., Clatworthy†, M.R., Marioni†, J.C., Göttgens†, B., Haniffa, †, M.” Single-cell multi-omics analysis of the immune response in COVID-19″. Nature Medicine, 2021: in press.
  2. Zhang, Z., Zhang, Y., He, T., Sweeney, C.L., Baris, S., Karakoc-Aydiner, E., Yao, Y., Ertem, D., Matthews, H.F., Gonzaga-Jauregui, C., Malech, H.L., Su, H., Ozen, A., Smith, K.G.C., and Lenardo, M. “Homozygous IL37 mutation associated with infantile inflammatory bowel disease”. Proceedings of the National Academy of Sciences of the United States of America, 2021. doi: ttps://doi.org/10.1073/pnas.2009217118
  3. Bergamaschi, L, Mescia, F., Turner, L., Hanson, A., Kotagiri, P., Dunmore, B.J., Ruffieux, H., De Sa, A., Huhn, O., Wills, M.R., Baker, S., Doffinger, R., Dougan, G., Elmer, A., Goodfellow, I.G., Gupta, R.K., Hosmillo, M., Hunter, K., Kingston, N., Lehner, P.J., Matheson, N.J., Nicholson, J.K., Petrunkina, A.M., Richardson, S., Saunders, C., Thaventhiran, J.E.D., Toonen, E.J.M., Weekes, M, P., Cambridge Institute of Therapeutic Immunology and Infectious Disease-National Institute of Health Research (CITIID-NIHR), COVID BioResource Collaboration, Toshner, M., Hess, C., Bradley, J.R., Lyons, P.A., and Smith, K.G.C. ” Early immune pathology and persistent dysregulation characterise severe COVID-19″. medRxiv, doi:10.1101/2021.01.11.20248765
  4. Kemp, S.A, Collier, D.A., Datir, R.P., Ferreira, I.A.T.M., Gayed, S., Jahun, A., Hosmillo, M., Rees-Spear, C., Mlcochova, P., Lumb., I.U., Roberts, D.J., Chandra, A., Temperton, N., he CITIID-NIHR BioResource COVID-19 Collaboration, The COVID-19 Genomics UK 9COG-UK) Consortium, Sharrocks, K., Blane, E., Modis, Y., Leigh, K., Briggs, J., van Gils, M., Smith, K.G.C., Bradley, J.R., Smith, C., Doffinger, R., Ceron-Gutierrez, L., Barcenas-Morales, G., Pollock, D.D., Goldstein, R.A., Smielewska, A., Skittrall, J.P., Gouliouris, T., Goodfellow, I.G., Gkrania-Klotsas, E.G., Illingworth, C.J.R., McCoy, L.E., and Gupta, R,K. “SARS-CoV-2 evolution during treatment of chronic infection”. Nature, doi:10.1038/s41586-021-03291-y.
  5. Collier, D.A., De Marco, A., Ferreira, I.A.T.M., Meng, B., Datir, R., Walls, A.C., Kemp, S.A., Bassi, J., Pinto, D., Fregni, C.C., Bianchi, S., Tortorici, M.A., Bowen, J., Culap, K., Jaconi, S., Cameroni, E, Snell, G., Pizzuto, M.S., Pellanda, A.F., Garzoni, C., Riva, A., The CITIID-NIHR BioResource COVID-19 Collaboration, Elmer, A., Kingston, N., Graves, B., McCoy, L.E., Smith, K.G.C., Bradley, J.R., Thaventhiran, J.J., Ceron-Gutierrez, L.L., Barcenas-Morales, G., Virgin, H.W., Lanzavecchia, A., Piccoli, L., Doffinger, R., Wills, M., Veesler, D., Corti, D., andGupta, R,K. “SARS-CoV-2 B.1.1.7 escape from mRNA vaccine-elicited neutralizing antibodies”. medRxiv, doi: doi:10.1101/2021.01.19.2124984.
  6. Buckland, M.S., Galloway, J.B., Fhogartaigh, C.N., Meredith, L., Provine, N.M., Bloor, S., Ogbe, A., Zelek, W.M., Smielewska, A., Yakovleva, A., Mann, T., Bergamaschi, L., Turner, L., Mescia, F., Toonen, E.J.M., Hackstein, C., Akther, H.A., Viera, V.A., Ceron-Gutierrez, L., Periselneris, J., Kiani-Alikhan, S., Grigoriadou, S., Vaghela, D., Lear, S.E., Torok, M.E., Hamilton, W.L., Stockton, J., Quick, J., Nelson, P., Hunter, M., Coulter, T.I., Devlin, L., CITIID-NIHR COVID-19 BioResource Collaboration, MRC-Toxicology Unit COVID-19 Consortium, Bradley, J.R., Smith, K.G.C., Ouwehand, W.H., Estcourt, L., Harvala, H., Roberts, D.J., Wilkinson, I.B., Screaton, N., Loman, N., Doffinger, R., Lyons, P.A., Morgan, B.P., Goodfellow, I.G., Klenerman, P., Lehner, P.J., Matheson, N.J., and Thaventhiran, J.E.D. “Treatment of COVID-19 with remdesivir in the absence of humoral immunity: a case report”. Nature Communications, doi: 10.1038/s41467-020-19761-2.
  7. Foskolou, I.P., Barbieri, L., Vernet, A., Bargiela, D., Cunha, P.P., Velica, P., Suh, E., Pietsch, S., Matuleviciute, R., Rundqvist, H., McIntyre, D., Smith, K.G.C., and Johnson, R.S. “The S enantiomer of 2-hydroxyglutarate increases central memory CD8 populations and improves CAR-T therapy outcome in CAR-T production” Blood Advances, doi:10.1182/bloodadvances.2020002309.
  8. McKinney F., Cuthbertson I, Harris K.M., Smiklek, D.E., Connor, C., Manferri, G., Carr, E.J., Zamvil, S.S., and Smith K.G.C. “A subset of regulatory CD8+ Natural Killer cells predict favourable clinical outcome in relapsing multiple sclerosis.” Nature Communications, 2020. doi:10.1038/s41467-020-20594-2.
  9. Burren, O.S., Reales, G., Wong, L., Bowes, J., Lee, J.C., Barton, A., Lyons, P.A., Smith, K.G.C., Thomson, W., Kirk, P.D.W., and Wallace, C.E. “Genetic feature engineering enables characterisation of shared risk factors in immune-mediated diseases “. Genome Medicine, doi:10.1186/s13073-020-00797-4.
  10. Thaventhiran, J.E.D., Lango Allen, H., Burren O.S., Henry, J., Farmery, R., Staples, E., Zhang, Z., Rae, W., Greene, D., Simeoni, I., Penkett, C., Stephens, J., Thomas, M., Sargur, R., Gordins, P., Baxendale, H., Tuijnenburg, P., Worth, A., Hanson, S., Buckland,M.S., Gilmour, K., Maimaris, J., Lyons, P., Sansom, D.M., Lynch, A.G., Ellinghaus, E., Ellinghaus, D., Hemming Karlsen, T., Cutler, A.J., Kumararatne, D.S., NIHR Bioresource, Savic, S., Burns, S.O., Kuijpers, T.W., Ouwehand, W.H., Thrasher, A.J., and Smith, K.G.C. “Genetics of primary immunodeficiency revealed by genome sequencing a sporadic cohort.” Nature, 2020;583:90-95. doi:10.1038/s41586-020-2265-1.
  11. Wilson, T., Clare, S., Mikulin, J., Johnson, C., Harcourt, K., Lyons, P., Dougan, G., and Smith, K.G.C. “SLAMF9 is found on select subsets of antigen-presenting cells and promotes resistance to Salmonella infection.”  Immunology, 2020;159:393-403. doi:1111/imm.13169, 16649442.
  12. Bonaud, A., Clare, S., Bisio, V., Sowerby, J., Yao, Y., Ostergaard, H., Balabanian, K., Smith, K.G.C., and Espéli, M. “Leupaxin expression is dispensable for B cell immune responses.” Frontiers in Immunology, 2020;11:466. doi:10.3389/fimmu.2020.00466.
  13. Bourges, C., Groff, A. F., Burren, O.S., Gerhardinger, C., Mattioli, K., Hutchinson, A., Hu, T., Anand, T., Epping, M. W., Wallace, C., Smith, K.G.C., Rinn, J.L., and Lee, J.C. “Resolving mechanisms of immune-mediated disease in primary CD4 T cells.”  EMBO Molecular Medicine, 2020;12:e12112. doi:10.15252/emmm.202012112.
  14. Ortiz-Fernández, L., López-Mejias, R., Carmona, FD., Castaño-Nuñez, A.L.,Lyons, P.A., Caruz, A., Gónzalez-Escribano, M.F., Smith, K.G.C., González-Gay, M.A., Martin, J., Spanish GCA Study Group, IgAV Study Group, AAV Study Group and HIV Study Group.  “The role of a functional variant of TYK2 in vasculitides and infections.”  Clinical and Experimental Rheumatology, PMID: 32167874.Rivett, L., Sridhar, S., Sparkes, D., Routledge, M., Jones, N.K., Forrest, S., Young, J., Pereira-Dias, J., Hamilton, W.L., Ferris, M., Torok, E., Meredith L., the CITIID-NIHR COVID-19 BioResource Collaboration, Curran, M., Fuller, S., Chaudhry, A., Shaw, A., Samworth, R.J., Bradley, J.R., Dougan, G., Smith, K.G.C., Lehner, P.J., Matheson, N.J., Wright, G., Goodfellow, I., Baker, S., and Weekes, M.P. “Screening of healthcare workers for SARS-CoV-2 highlights the role of asymptomatic carriage in COVID-19 transmission.” eLife, 2020;11:9:e58728. doi:10.7554/eLife.58728.
  15. Rajewsky, N., Almouzni, G., Gorski, S.A., Aerts, S., Amit, I., Bertero M.G., Bock, C., Bredenoord, A.L., Brooksbank, C., Cavalli, G., Chiocca, S., Clevers, H., De Strooper, B., Eggert, A., Ellenberg, J., Fernandez, X.M., Figlerowicz, M., Gasser, S.M., Hubner, N., Kjems, j., Knoblich, J.A., Krabbe, G., Lichter, P., Linnarsson, S., Marine, J., Marioni, J., Marti-Renom, M.A., Netea, M.G., Nickel, D., Nollmann, M., Novak, H.R., Parkinson, H., Piccolo, S., Pinheiro, I., Pombo, A., Popp, C., Reik, W., Roman-Roman, S., Rosenstiel, P., Schultze, J.L., Stegle, O., Tanay, A., Testa, G., Thanos, D., Theis, F., Torres-Padilla, M., Valencia, A., Vallot, C., Oudenaarden, A.V., Vidal, M., Voet, T., and LifeTime Community.  “LifeTime and improving European healthcare through cell-based interceptive medicine” Nature, 2020 doi:10.1038/s41586-020-2715-9.

Publications 2010 – 2019

  1. Catapano, F., Chaudhry, A.N., Jones, R.B., Smith, K.G.C. and Jayne, D.W. “Long-term efficacy and safety of rituximab in refractory and relapsing systemic lupus erythematosus.” Nephrology Dialysis Transplantation, 2010;25:3586-3592. doi:10.1093/ndt/gfq256.
  2. Fabani, M.M., Abreu-Goodger, C., Williams, D., Lyons, P.A., Torres, A.G., Smith, K.G.C., Enright, A.J., Gait, M.J. and Vigorito, E. “Efficient inhibition of miR-155 function in vivo by peptide nucleic acids.” Nucleic Acids Research, 2010;38:4466-4475. doi:10.1093/nar/gkq160.
  3. Lyons, P.A., McKinney, E.F., Rayner, T.F., Hatton, A., Woffendin, H.B., Koukoulaki, M., Freeman, T.C., Jayne, D.R., Chaudhry, A.N. and Smith, K.G.C. “Novel expression signatures identified by transcriptional analysis of separated leucocyte subsets in systemic lupus erythematosus and vasculitis.” Annals of the Rheumatic Diseases, 2010;69:1208-1213. doi:10.1136/ard.2009.108043.
  4. McKinney, E.F., Lyons, P.A., Carr, E.J., Hollis, J.L., Jayne, D.R., Willcocks, L.C., Koukoulaki, M., Brazma, A., Jovanovic, V., Kemeny, D.M., Pollard, A.J., Macary, P.A., Chaudhry, A.N. and Smith, K.G.C. “A CD8+ T cell transcription signature predicts prognosis in autoimmune disease.” Nature Medicine, 2010;16:586-591. doi:10.1038/nm.2130.
  5. Niederer, H.A., Willcocks, L.C., Rayner, T.F., Yang, W., Lau, Y.L., Williams, T.N., Scott, J.A., Urban, B.C., Peshu, N., Dunstan, S.J., Hien, T.T., Phu, N.H., Padyukov, L., Gunnarsson, I., Svenungsson, E., Savage, C.O., Watts, R.A., Lyons, P.A., Clayton, D.G. and Smith, K.G.C. “Copy number, linkage disequilibrium and disease association in the FCGR locus.” Human Molecular Genetics, 2010;19:3282-3294. doi:10.1093/hmg/ddq216.
  6. Oracki, S.A., Tsantikos, E., Quilici, C., Light, A., Schmidt, T., Lew, A.M., Martin, J.E., Smith, K.G.C., Hibbs, M.L. and Tarlinton, D.M. “CTLA4Ig alters the course of autoimmune disease development in Lyn-/- mice.” Journal of Immunology, 2010;184:757-763. doi:10.4049/jimmunol.0804349.
  7. Willcocks, L.C., Carr, E.J., Niederer, H.A., Rayner, T.F., Williams, T.N., Yang, W., Scott, J.A., Urban, B.C., Peshu, N., Vyse, T.J., Lau, Y.L., Lyons, P.A. and Smith, K.G.C. “A defunctioning polymorphism in FCGR2B is associated with protection against malaria but susceptibility to systemic lupus erythematosus.” Proceedings of the National Academy of Sciences of the United States of America, 2010;107:7881-7885. doi:10.1073/pnas.0915133107.
  8. Espeli, M., Bokers, S., Giannico, G., Dickinson, H.A., Bardsley, V., Fogo, A.B. and Smith, K.G.C. “Local renal autoantibody production in lupus nephritis.” Journal of the American Society of Nephrology, 2011;22:296-305. doi:10.1681/ASN.2010050515.
  9. Lee, J.C., Lyons, P.A., McKinney, E.F., Sowerby, J.M., Carr, E.J., Bredin, F., Rickman, H.M., Ratlamwala, H., Hatton, A., Rayner, T.F., Parkes, M. and Smith, K.G.C. “Gene expression profiling of CD8+ T cells predicts prognosis in patients with Crohn disease and ulcerative colitis.” Journal of Clinical Investigation, 2011;121:4170-4179. doi:10.1172/JCI59255.
  10. Linterman, M.A., Pierson, W., Lee, S.K., Kallies, A., Kawamoto, S., Rayner, T.F., Srivastava, M., Divekar, D.P., Beaton, L., Hogan, J.J., Fagarasan, S., Liston, A., Smith, K.G.C.* and Vinuesa, C.G.* (equal senior authors). “Foxp3+ follicular regulatory T cells control the germinal center response.” Nature Medicine, 2011;17:975-982. doi:10.1038/nm.2425.
  11. Smith, K.G.C., Willcocks, L.C. and Lyons, P.A. “Comment on “The inhibiting Fc receptor for IgG, FcgammaRIIB, is a modifier of autoimmune susceptibility”.” Journal of Immunology, 2011;187:5473. doi:10.4049/jimmunol.1101194.
  12. Waisberg, M., Tarasenko, T., Vickers, B.K., Scott, B.L., Willcocks, L.C., Molina-Cruz, A., Pierce, M.A., Huang, C.Y., Torres-Velez, F.J., Smith, K.G.C., Barillas-Mury, C., Miller, L.H., Pierce, S.K. and Bolland, S. “Genetic susceptibility to systemic lupus erythematosus protects against cerebral malaria in mice.” Proceedings of the National Academy of Sciences of the United States of America, 2011;108:1122-1127. doi:10.1073/pnas.1017996108.
  13. Callaghan, C.J., Win, T.S., Motallebzadeh, R., Conlon, T.M., Chhabra, M., Harper, I., Sivaganesh, S., Bolton, E.M., Bradley, J.A., Brownlie, R.J., Smith, K.G.C. and Pettigrew, G.J. “Regulation of allograft survival by inhibitory FcgammaRIIb signaling.” Journal of Immunology, 2012;189:5694-5702. doi:10.4049/jimmunol.1202084.
  14. Clatworthy, M.R., Kettunen, M.I., Hu, D.E., Mathews, R.J., Witney, T.H., Kennedy, B.W., Bohndiek, S.E., Gallagher, F.A., Jarvis, L.B., Smith, K.G.C. and Brindle, K.M. “Magnetic resonance imaging with hyperpolarized [1,4-(13)C2]fumarate allows detection of early renal acute tubular necrosis.” Proceedings of the National Academy of Sciences of the United States of America, 2012;109:13374-13379. doi:10.1073/pnas.1205539109.
  15. Espeli, M., Clatworthy, M.R., Bokers, S., Lawlor, K.E., Cutler, A.J., Kontgen, F., Lyons, P.A. and Smith, K.G.C. “Analysis of a wild mouse promoter variant reveals a novel role for FcgammaRIIb in the control of the germinal center and autoimmunity.” Journal of Experimental Medicine, 2012;209:2307-2319. doi:10.1084/jem.20121752.
  16. Kain, R., Tadema, H., McKinney, E.F., Benharkou, A., Brandes, R., Peschel, A., Hubert, V., Feenstra, T., Sengolge, G., Stegeman, C., Heeringa, P., Lyons, P.A., Smith, K.G.C., Kallenberg, C. and Rees, A.J. “High prevalence of autoantibodies to hLAMP-2 in anti-neutrophil cytoplasmic antibody-associated vasculitis.” Journal of the American Society of Nephrology, 2012;23:556-566. doi:10.1681/ASN.2011090920.
  17. Lyons, P.A., Rayner, T.F., Trivedi, S., Holle, J.U., Watts, R.A., Jayne, D.R., Baslund, B., Brenchley, P., Bruchfeld, A., Chaudhry, A.N., Cohen Tervaert, J.W., Deloukas, P., Feighery, C., Gross, W.L., Guillevin, L., Gunnarsson, I., Harper, L., Hruskova, Z., Little, M.A., Martorana, D., Neumann, T., Ohlsson, S., Padmanabhan, S., Pusey, C.D., Salama, A.D., Sanders, J.S., Savage, C.O., Segelmark, M., Stegeman, C.A., Tesar, V., Vaglio, A., Wieczorek, S., Wilde, B., Zwerina, J., Rees, A.J., Clayton, D.G. and Smith, K.G.C. “Genetically distinct subsets within ANCA-associated vasculitis.” New England Journal of Medicine, 2012;367:214-223. doi:10.1056/NEJMoa1108735.
  18. Smith, R.M., Jones, R.B., Guerry, M.J., Laurino, S., Catapano, F., Chaudhry, A., Smith, K.G.C. and Jayne, D.R. “Rituximab for remission maintenance in relapsing antineutrophil cytoplasmic antibody-associated vasculitis.” Arthritis & Rheumatology, 2012;64:3760-3769. doi:10.1002/art.34583.
  19. Teoh, E.P., Kukkaro, P., Teo, E.W., Lim, A.P., Tan, T.T., Yip, A., Schul, W., Aung, M., Kostyuchenko, V.A., Leo, Y.S., Chan, S.H., Smith, K.G.C., Chan, A.H., Zou, G., Ooi, E.E., Kemeny, D.M., Tan, G.K., Ng, J.K., Ng, M.L., Alonso, S., Fisher, D., Shi, P.Y., Hanson, B.J., Lok, S.M. and MacAry, P.A. “The structural basis for serotype-specific neutralization of dengue virus by a human antibody.” Science Translational Medicine, 2012;4:139ra183. doi:10.1126/scitranslmed.3003888.
  20. Walker, J.A., Hall, A.M., Kotsopoulou, E., Espeli, M., Nitschke, L., Barker, R.N., Lyons, P.A. and Smith, K.G.C. “Increased red cell turnover in a line of CD22-deficient mice is caused by Gpi1c: a model for hereditary haemolytic anaemia.” European Journal of Immunology, 2012;42:3212-3222. doi:10.1002/eji.201242633.
  21. Jovanovic, V., Abdul Aziz, N., Lim, Y.T., Ng Ai Poh, A., Jin Hui Chan, S., Ho Xin Pei, E., Lew, F.C., Shui, G., Jenner, A.M., Bowen, L., McKinney, E.F., Lyons, P.A., Kemeny, M.D., Smith, K.G.C., Wenk, M.R. and Macary, P.A. “Lipid anti-lipid antibody responses correlate with disease activity in systemic lupus erythematosus.” PLOS One, 2013;8:e55639. doi:10.1371/journal.pone.0055639.
  22. Lee, J.C., Espeli, M., Anderson, C.A., Linterman, M.A., Pocock, J.M., Williams, N.J., Roberts, R., Viatte, S., Fu, B., Peshu, N., Hien, T.T., Phu, N.H., Wesley, E., Edwards, C., Ahmad, T., Mansfield, J.C., Gearry, R., Dunstan, S., Williams, T.N., Barton, A., Vinuesa, C.G., Consortium, U.I.G., Parkes, M., Lyons, P.A. and Smith, K.G.C. “Human SNP links differential outcomes in inflammatory and infectious disease to a FOXO3-regulated pathway.” Cell, 2013;155:57-69. doi:10.1016/j.cell.2013.08.034.
  23. Mok, Y., Schwierzeck, V., Thomas, D.C., Vigorito, E., Rayner, T.F., Jarvis, L.B., Prosser, H.M., Bradley, A., Withers, D.R., Martensson, I.L., Corcoran, L.M., Blenkiron, C., Miska, E.A., Lyons, P.A. and Smith, K.G.C. “MiR-210 is induced by Oct-2, regulates B cells, and inhibits autoantibody production.” Journal of Immunology, 2013;191:3037-3048. doi:10.4049/jimmunol.1301289.
  24. Pepper, R.J., Hamour, S., Chavele, K.M., Todd, S.K., Rasmussen, N., Flint, S., Lyons, P.A., Smith, K.G.C., Pusey, C.D., Cook, H.T. and Salama, A.D. “Leukocyte and serum S100A8/S100A9 expression reflects disease activity in ANCA-associated vasculitis and glomerulonephritis.” Kidney International, 2013;83:1150-1158. doi:10.1038/ki.2013.2.
  25. Rivino, L., Kumaran, E.A., Jovanovic, V., Nadua, K., Teo, E.W., Pang, S.W., Teo, G.H., Gan, V.C., Lye, D.C., Leo, Y.S., Hanson, B.J., Smith, K.G.C., Bertoletti, A., Kemeny, D.M. and MacAry, P.A. “Differential targeting of viral components by CD4+ versus CD8+ T lymphocytes in dengue virus infection.” Journal of Virology, 2013;87:2693-2706. doi:10.1128/JVI.02675-12.
  26. Sun, J.B., Xiang, Z., Smith, K.G.C. and Holmgren, J. “Important role for FcgammaRIIB on B lymphocytes for mucosal antigen-induced tolerance and Foxp3+ regulatory T cells.” Journal of Immunology, 2013;191:4412-4422. doi:10.4049/jimmunol.1301324.
  27. Zilbauer, M., Rayner, T.F., Clark, C., Coffey, A.J., Joyce, C.J., Palta, P., Palotie, A., Lyons, P.A. and Smith, K.G.C. “Genome-wide methylation analyses of primary human leukocyte subsets identifies functionally important cell-type-specific hypomethylated regions.” Blood, 2013;122:e52-60. doi:10.1182/blood-2013-05-503201.
  28. Bokers, S., Urbat, A., Daniel, C., Amann, K., Smith, K.G.C., Espeli, M. and Nitschke, L. “Siglec-G deficiency leads to more severe collagen-induced arthritis and earlier onset of lupus-like symptoms in MRL/lpr mice.” Journal of Immunology, 2014;192:2994-3002. doi:10.4049/jimmunol.1303367.
  29. Clatworthy, M.R., Aronin, C.E., Mathews, R.J., Morgan, N.Y., Smith, K.G.C. and Germain, R.N. “Immune complexes stimulate CCR7-dependent dendritic cell migration to lymph nodes.” Nature Medicine, 2014;20:1458-1463. doi:10.1038/nm.3709.
  30. Clatworthy, M.R., Harford, S.K., Mathews, R.J. and Smith, K.G.C. “FcgammaRIIb inhibits immune complex-induced VEGF-A production and intranodal lymphangiogenesis.” Proceedings of the National Academy of Sciences of the United States of America, 2014;111:17971-17976. doi:10.1073/pnas.1413915111.
  31. Clatworthy, M.R., Matthews, R., Doehler, B., Willcocks, L., Opelz, G. and Smith, K.G.C. “De-functioning polymorphism in the inhibitory receptor FcgammaRIIB does not impact upon kidney allograft survival.” Clinical and Experimental Immunology, 2014;178 Suppl 1:159-161. doi:10.1111/cei.12553.
  32. Clatworthy, M.R., Matthews, R.J., Doehler, B., Willcocks, L.C., Opelz, G. and Smith, K.G.C. “Defunctioning polymorphism in the immunoglobulin G inhibitory receptor (FcgammaRIIB-T/T232) does not impact on kidney transplant or recipient survival.” Transplantation, 2014;98:285-291. doi:10.1097/TP.0000000000000287.
  33. Ferreira, R.C., Guo, H., Coulson, R.M., Smyth, D.J., Pekalski, M.L., Burren, O.S., Cutler, A.J., Doecke, J.D., Flint, S., McKinney, E.F., Lyons, P.A., Smith, K.G.C., Achenbach, P., Beyerlein, A., Dunger, D.B., Clayton, D.G., Wicker, L.S., Todd, J.A., Bonifacio, E., Wallace, C. and Ziegler, A.G. “A type I interferon transcriptional signature precedes autoimmunity in children genetically at risk for type 1 diabetes.” Diabetes, 2014;63:2538-2550. doi:10.2337/db13-1777.
  34. Jones, R.B., Walsh, M., Chaudhry, A.N., Smith, K.G.C. and Jayne, D.R. “Randomized trial of enteric-coated mycophenolate sodium versus mycophenolate mofetil in multi-system autoimmune disease.” Clinical Kidney Journal, 2014;7:562-568. doi:10.1093/ckj/sfu096.
  35. Linterman, M.A., Denton, A.E., Divekar, D.P., Zvetkova, I., Kane, L., Ferreira, C., Veldhoen, M., Clare, S., Dougan, G., Espeli, M. and Smith, K.G.C. “CD28 expression is required after T cell priming for helper T cell responses and protective immunity to infection.” ELife, 2014;39. doi:10.7554/eLife.03180.
  36. Marco, H., Smith, R.M., Jones, R.B., Guerry, M.J., Catapano, F., Burns, S., Chaudhry, A.N., Smith, K.G.C. and Jayne, D.R. “The effect of rituximab therapy on immunoglobulin levels in patients with multisystem autoimmune disease.” BMC Musculoskeletal Disorders, 2014;15:178. doi:10.1186/1471-2474-15-178.
  37. Richard, A.C., Lyons, P.A., Peters, J.E., Biasci, D., Flint, S.M., Lee, J.C., McKinney, E.F., Siegel, R.M. and Smith, K.G.C. “Comparison of gene expression microarray data with count-based RNA measurements informs microarray interpretation.” BMC Genomics, 2014;15:649. doi:10.1186/1471-2164-15-649.
  38. Wallin, E.F., Jolly, E.C., Suchanek, O., Bradley, J.A., Espeli, M., Jayne, D.R., Linterman, M.A. and Smith, K.G.C. “Human T-follicular helper and T-follicular regulatory cell maintenance is independent of germinal centers.” Blood, 2014;124:2666-2674. doi:10.1182/blood-2014-07-585976.
  39. Alberici, F., Smith, R.M., Jones, R.B., Roberts, D.M., Willcocks, L.C., Chaudhry, A., Smith, K.G.C. and Jayne, D.R. “Long-term follow-up of patients who received repeat-dose rituximab as maintenance therapy for ANCA-associated vasculitis.” Rheumatology (Oxford), 2015;54:1153-1160. doi:10.1093/rheumatology/keu452.
  40. McKinney, E.F., Lee, J.C., Jayne, D.R., Lyons, P.A. and Smith, K.G.C. “T-cell exhaustion, co-stimulation and clinical outcome in autoimmunity and infection.” Nature, 2015;523:612-616. doi:10.1038/nature14468.
  41. Fernandez-Egea, E., Vertes, P.E., Flint, S.M., Turner, L., Mustafa, S., Hatton, A., Smith, K.G.C., Lyons, P.A. and Bullmore, E.T. “Peripheral Immune Cell Populations Associated with Cognitive Deficits and Negative Symptoms of Treatment-Resistant Schizophrenia.” PLOS One, 2016;11:e0155631. doi:10.1371/journal.pone.0155631.
  42. Flint, S.M., Jovanovic, V., Teo, B.W., Mak, A., Thumboo, J., McKinney, E.F., Lee, J.C., MacAry, P., Kemeny, D.M., Jayne, D.R., Fong, K.Y., Lyons, P.A. and Smith, K.G.C. “Leucocyte subset-specific type 1 interferon signatures in SLE and other immune-mediated diseases.” RMD Open, 2016;2:e000183. doi:10.1136/rmdopen-2015-000183.
  43. Lewin, A., Saadi, H., Peters, J.E., Moreno-Moral, A., Lee, J.C., Smith, K.G.C., Petretto, E., Bottolo, L. and Richardson, S. “MT-HESS: an efficient Bayesian approach for simultaneous association detection in OMICS datasets, with application to eQTL mapping in multiple tissues.” Bioinformatics, 2016;32:523-532. doi:10.1093/bioinformatics/btv568.
  44. Peters, J.E., Lyons, P.A., Lee, J.C., Richard, A.C., Fortune, M.D., Newcombe, P.J., Richardson, S. and Smith, K.G.C. “Insight into Genotype-Phenotype Associations through eQTL Mapping in Multiple Cell Types in Health and Immune-Mediated Disease.” PLOS Genetics, 2016;12:e1005908. doi:10.1371/journal.pgen.1005908.
  45. Richard, A.C., Peters, J.E., Lee, J.C., Vahedi, G., Schaffer, A.A., Siegel, R.M., Lyons, P.A. and Smith, K.G.C. “Targeted genomic analysis reveals widespread autoimmune disease association with regulatory variants in the TNF superfamily cytokine signalling network.” Genome Medicine, 2016;8:76. doi:10.1186/s13073-016-0329-5.
  46. Viatte, S., Lee, J.C., Fu, B., Espeli, M., Lunt, M., De Wolf, J.N., Wheeler, L., Reynolds, J.A., Castelino, M., Symmons, D.P., Lyons, P.A., Barton, A. and Smith, K.G.C. “Association Between Genetic Variation in FOXO3 and Reductions in Inflammation and Disease Activity in Inflammatory Polyarthritis.” Arthritis & Rheumatology, 2016;68:2629-2636. doi:10.1002/art.39760.
  47. Alberici, F., Smith, R.M., Fonseca, M., Willcocks, L.C., Jones, R.B., Holle, J.U., Wieczorek, S., Neumann, T., Martorana, D., Gregorini, G., Sinico, R.A., Bruchfeld, A., Gunnarsson, I., Ohlsson, S., Baslund, B., Tesar, V., Hruskova, Z., Cid, M.C., Vaglio, A., Lyons, P.A., Smith, K.G.C. and Jayne, D.R.W. “Association of a TNFSF13B (BAFF) regulatory region single nucleotide polymorphism with response to rituximab in antineutrophil cytoplasmic antibody-associated vasculitis.” Journal of Allergy and Clinical Immunology, 2017;139.5:1684-1687. doi:10.1016/j.jaci.2016.08.051.
  48. Lee, J.C., Biasci, D., Roberts, R., Gearry, R.B., Mansfield, J.C., Ahmad, T., Prescott, N.J., Satsangi, J., Wilson, D.C., Jostins, L., Anderson, C.A., Consortium, U.I.G., Traherne, J.A., Lyons, P.A., Parkes, M. and Smith, K.G.C. “Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn’s disease.” Nature Genetics, 2017;49:262-268. doi:10.1038/ng.3755.
  49. Thomas, D.C., Clare, S., Sowerby, J.M., Pardo, M., Juss, J.K., Goulding, D.A., van der Weyden, L., Storisteanu, D., Prakash, A., Espeli, M., Flint, S., Lee, J.C., Hoenderdos, K., Kane, L., Harcourt, K., Mukhopadhyay, S., Umrania, Y., Antrobus, R., Nathan, J.A., Adams, D.J., Bateman. A., Choudhary, J.S., Lyons, P.A., Condliffe, A.M., Chilvers, E.R., Dougan, G. and Smith, K.G.C. “Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity.” Journal of Experimental Medicine, 2017;214:1111-1128. doi:10.1084/jem.20161382.
  50. Horton, S., Giotopoulos, G., Yun, H., Vohra, S., Sheppard, O., Bashford-Rogers, R., Rashid, M., Clipson, A., Chan, W., Sasca, D., Osaki, L.Y.H., Basheer, F., Gallipoli, P., Burrows, N., Erdem, A., Sybirna, A., Förster, S., Zhao, W., Sustic, T., Harrison, A.P., Laurenti, E., Okosun, J., Hodson, D., Wright, P., Smith, K.G.C., Maxwell, P., Fitzgibbon, J., Du, M., Adams, D., and Huntly, B.J.P.  “Early loss of Crebbp confers malignant stem cell properties on lymphoid progenitors” Nature Cell Biology, 2017;19:1093-1104. doi:10.1038/ncb3597.
  51. Sowerby, J.M., Thomas, D.C., Clare, S., Espéli, M., Guerrero, A., Hoenderdos, K., Harcourt, K., Marsden, M., Abdul-Karim, J., Clement, M., Antrobus, R., Umrania, Y., Barton, P., Flint, S.M., Juss, J.K., Condliffe, A.M., Lyons, P.A., Humphreys, I.R., Chilvers, E.R., Ouwehand, W.H., Dougan, G. and Smith, K.G.C. “Nbeal2 is required for neutrophil and NK cell function, and pathogen defence.” Journal of Clinical Investigation, 2017;127:3521-3526. doi:10.1172/JCI91684.
  52. Ortiz-Fernández, L., David Carmona, F., López-Mejías, R., González-Escribano, M.F., Lyons, P.A., Morgan, A.W., Sawalha, A.H., Smith, K.G.C., González-Gay, M.A. and Martín J., et al. “Cross-phenotype analysis of Immunochip data identifies KDM4C as a relevant locus for the development of systemic vasculitis”.  Annals of the Rheumatic Diseases, 2018;77.4:589-595. doi:10.1136/annrheumdis-2017-212372. 
  53. Lawless, D., Geier, C.B., Farmer, J.R., Lango Allen, H., Thwaites, D., Atschekzei, F., Brown, M., Buchbinder, D., Burns, S.O., Butte, M.J., Csomos, K., Deevi, S.V.V., Egner, W., Ehl, S., Eibl, M.M., Fadugba, O., Foldvari, Z., Green, D.M., Hendrickson,, S.E., Holland, S.M., John, T., Klemann, C., Kuijpers, T.W., Moreira, F., Piller, A., Rayner-Matthews, P., Romberg, N.D., Sargur, R., Schmidt, R.E., Schroder,, C., Schuetz, C., Sharapova, S.O. and Smith, K.G.C. “Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency”. Journal of Allergy and Clinical Immunology, 2018;141.6:2303-2306. doi:10.1016/j.jaci2018.02.007.
  54. Banham, G., Flint, S.M., Torpey, N., Lyons, P.A., Shanahan, D.N., Gibson, A., Watson, C.J.E., O’Sullivan, A., Chadwick, J., Foster, K.E., Jones, R.B., Devey, L.R., Richards, A., Erwig, M.D., Savage. C.O., Smith, K.G.C., Henderson, R.B. and Clatworthy, M.R. “Belimumab in Kidney Transplantation: an experimental medicine, randomised, placebo-controlled phase 2 trial”. Lancet, 2018;391.10140:2619-2630. doi:10.1016/S0140-6736(18)30984-X. 
  55. Richard, A.C., Peters, J.E., Savinykh, N., Lee, J.C., Hawley, E.T., Meylan, F., Siegel, R.M., Lyons, P.A. and Smith, K.G.C. “Reduced monocyte and macrophage TNFSF15/TL1A expression is associated with susceptibility to inflammatory bowel disease”. PLOS Genetics, 2018;14.9:e1007458. doi:10.1371/journal.pgen.1007458.
  56. Parkes, M., Nurulamin, N.M., Dowling, F., Leung, H., Bond, S., Whitehead, L., Upponi, S., Kinnon, P., Sandham, A.P., Lyons, P.A., McKinney, E.F., Smith, K.G.C. and Lee, J.C. “PRedicting Outcomes For Crohn’s dIsease using a moLecular biomarkEr (PROFILE): protocol for a multicentre randomised, biomarker-stratified trial.” BMJ Open, 2018;8.12:e026767. doi:10.1136/bmjopen-2018-026767.
  57. Farmery, J.H.R., Smith, M.L., NIHR BioResource – Rare Diseases. and Lynch, A.G. “Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.”  Scientific Reports, 2018;8.1:1300. doi:10.1038/s41598-017-14403-y.
  58. Whitworth, J., Smith, P.S., Martin, J.E., West, H., Luchetti, A., Rodger, F., Clark, G., Carss, K., Stephens, J., Stirrups, K., Penkett, C., Mapeta, R., Ashford, S., Megy, K., Shakeel, H., Ahmed, M., Adlard, J., Barwell, J, Brewer, C., Casey, R.T., Armstrong, R., Cole, T., Evans, D.G., Fostira, F., Greenhalgh, L., Hanson, H., Henderson, A., Hoffman, J., Izatt, L., Kumar, A., Kwong, A., Lalloo, F., Ong, K.R., Paterson, J., Park, S.M., Chen-Shtoyerman, R., Searle, C., Side, L., Skytte, A.B., Snape, K., Woodward, E.R. NIHR BioResource – Rare Diseases Consortium., M.D. and Maher, E.R. “Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.” American Journal of Human Genetics, 2018;103.1:3-18. doi:10.1016/j.ajhg.2018.04.013.
  59. Ito, Y., Carss, K.J., Duarte, S.T., Hartley, T., Keren, B., Kurian, M.A., Marey, I., Charles, P., Mendonça, C., Nava, C., Pfundt, R., Sanchis-Juan, A., van Bokhoven, H., van Essen, A., van Ravenswaaij-Arts, C., NIHR BioResource., Care4Rare Canada Consortium., Boycott, K.M., Kernohan, K.D., Dyack, S. and Raymond, F.L. “De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.”  American Journal of Human Genetics, 2018;103.1;144-153. doi:10.1016/j.ajhg.2018.06.001.
  60. Petrova, V.N., Muir, L., McKay, P.F., Vassiliou, G.S., Smith, K.G.C., Lyons, P.A., Russell, C.A., Anderson, C.A., Kellam, P., and Bashford-Rogers, R.J.M. “Combined Influence of B-Cell Receptor Rearrangement and Somatic Hypermutation on B-Cell Class-Switch Fate in Health and in Chronic Lymphocytic Leukemia.”  Frontiers in Immunology, 2018;9:1784. doi:10.3389/fimmu.2018.01784.
  61. Thomas, D.C., Charbonnier, L.M., Schejtman, A., Aldhekri, H., Coomber, E.L., Dufficy, E.R., Beenken, A.E., Lee, J.C., Clare, S., Speak, A.O., Thrasher, A.J., Santilli, G., Al-Mousa, H., Alkuraya, F.S., Chatila, T.A. and Smith, K.G.C. “EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease.”  Journal of Allergy and Clinical Immunology, 2018;6749:18:31423-4. doi:10.1016/j.jaci2018.09.019.
  1. Tuijnenburg, P., Lango Allen, H., Burns, S.O., Greene, D., Jansen, M.H., Staples, E., Stephens, J., Carss, K.J., Biasci, D., Baxendale, H., Thomas, M., Chandra, A., Kiani-Alikhan, S., Longhurst, H.J., Seneviratne, S.L., Oksenhendler, E., Simeoni, I., de Bree, G.J., Tool, A.T.J., van Leeuwen, E.M.M., Ebberink, E.H.T.M., Meijer, A.B., Tuna, S., Whitehorn, D., Brown, M., Turro, E., Thrasher, A.J., Smith, K.G.C., Thaventhiran, J.E., Kuijpers, T.W. and NIHR BioResource–Rare Diseases Consortium. “Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.“ Journal of Allergy and Clinical Immunology, 2018;142.4:1285-1296. doi:10.1016/j.jaci.2018.01.39.
  2. Lyons P, Peters J, Alberici F, Liley J, Coulson R, Astle W, Baldini C, Bonatti F, Cid M, Elding H, Emmi G, Epplen J, Guillevin L, Jayne D, Jiang T, Gunnarsson I, Lamprecht P, Leslie S, Little M, Martorana D, Moosig F, Neumann T, Ohlsson S, Quickert S, Ramirez G, Rewerska B, Schett G, Sinico R, Szczeklik W, Tesar V, Vukcevic D, Terrier B, Watts R, Vaglio A, Holle J, Wallace C, Smith K.G.C. “Genetically distinct clinical subsets, and associations with asthma and eosinophil abundance, within Eosinophilic Granulomatosis with Polyangiitis.” Nature Communications, 2018;5120. doi:10.1101/491837.
  3. Rhodes, C.J., Batai, K., Bleda, M., Haimel, M., Southgate, L., Germain, M., Pauciulo, M.W., Hadinnapola, C., Aman, J., Girerd, B., Arora, A., Knight, J., Hanscombe, K.B., Karnes, J.H., Kaakinen, M., Gall, H., Ulrich, A., Harbaum, L., Cebola, I., Ferrer, J., Lutz, K., Swietlik, E.M., Ahmad, F., Amouyel, P., Archer, S.L., Argula, R., Austin, E.D., Badesch, D., Bakshi, S., Barnett, C., Benza, R., Bhatt, N., Bogaard, H.J., Burger, C.D., Chakinala, M., Church, C., Coghlan, J.G., Condliffe, R., Corris, P.A., Danesino, C., Debette, S., Elliott, C.G., Elwing, J., Eyries, M., Fortin, T., Franke, A., Frantz, R.P., Frost, A., Garcia, J.G.N., Ghio, S., Ghofrani, H., Gibbs, J.S.R., Harley, J., He, H., Hill, N.S., Hirsch, R., Houweling, A.C., Howard, L.S., Ivy, D., Kiely, D.G., Klinger, J., Kovacs, G., Lahm, T., Laudes, M., Machado, R.D., MacKenzie Ross, R.V., Marsolo, K., Martin, L.J., Moledina, S., Montani, D., Nathan, S.D., Newnham, M., Olschewski, A., Olschewski, H., Oudiz, R.J., Ouwehand, W.H., Peacock, A.J., Pepke-Zaba, J., Rehman, Z., Robbins, I., Roden, D.M., Rosenzweig, E.B., Saydain, G., Scelsi, L., Schilz, R., Seeger, W., Shaffer, C.M., Simms, R.W., Simon, M., Sitbon, O., Suntharalingam, J., Tang, H.,  Tchourbanov, A.Y., Thenappan, T., Torres, F., Toshner, M.R., Treacy, C.M., Noordegraaf, A.V., Waisfisz, Q., Walsworth, A.K., Walter, R.E., Wharton, J., White, R.J., Wilt, J., Wort, S.J., Yung, D., Lawrie, A., Humbert, M., Soubrier, F., Trégouët, D.A., Prokopenko, I., Kittles, R., Gräf. S., Nichols. W.C., Trembath. R.C., Desai. A.A., Morrell. N.W., Wilkins. M.R., on behalf of the UK NIHR BioResource Rare Diseases Consortium, the UK PAH Cohort Study Consortium, and the US PAH Biobank Consortium‡.  “Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis”.  Lancet Respiratory Medicine, 2018;7:227-238 doi:1016/S2213-2600(18)30409-0. 
  4. Zhang, Z., Gothe, F., Pennamen, P., James, J., MacDonald, D., Mata, C.P., Modis, Y., Acres, M., Haller, W., Bowen, C., Doffinger, R., Sinclair, J., Brothers, S., Alazami, A., Zhang, Y., Matthews, H., Naudion, S., Pelluard, F., Yamazaki, Y., Notarangelo, L., Almousa, H., Thaventhiran, J., Engelhardt, K.R., Hambleton, S. *, Rooryck, C.*, Smith, K.G.C.* and Lenardo, M.J. * “Human IL-2 receptor β mutations associated with defects in immunity and peripheral tolerance.”  Journal of Experimental Medicine, 2019;216:1311-1327. doi:10:1101-476697 *equal senior author.
  5. Wei, W., Tuna, S., Keogh, M.J., Smith, K.R., Aitman, T.J., Beales, P.L., Bennett, D.L., Gale, D.P., Bitner-Glindzicz, M.A.K., Black, G.C., Brennan, P., Elliot, P., Flinter, F.A., Floto, A., Houlden, H., Irving, M., Koziell, A., Maher, E.R., Markus, H.S., Morrell, N.W., Newman, W.G., Roberts, I., Sayer, J.A., Smith, K.G.C., Taylor, J.C., Watkins, H., Webster, A.R., Wilkie, A.O.M., Williamson, C., Ashford, S., Penkett, C.J., Stirrups, K.E., Rendon, A., Ouwehand, W.H., Bradley, J.R., Raymond, F.L., Caulfied, M., Turro, E., Chinnery, P.F., on behalf of the UK NIHR BioResource Rare Diseases Consortium, 100,000 Genomes Project Rare Diseases Pilot. “Germline selection shapes human mitochondrial DNA diversity” Science, 2019;364:eaau6520. doi:10.1126/science.aau6520.
  6. Biasci, D., Lee, J.C., Noor, N.M., Pombal, D.R., Hou, M., Lewis, N., Ahmad, T., Hart, A., Parkes, M., McKinney, E.F., Lyons, P.A., and Smith, K.G.C. “A blood-based prognostic biomarker in inflammatory bowel disease.”  Gut, 2019;0:1-10. doi:10.1136/gutjnl-2019-318343.
  7. Espéli, M., Bashford-Rogers, R., Sowerby, J.M., Alouche, N., Wong, L., Denton, A.E., Linterman, M.A. and Smith, K.G.C. “FcgRIIb differentially regulates pre-immune and germinal center B cell tolerance in mouse and human.”  Nature Communications, 2019;10:1970. doi:10.1038/s41467-019-09434-0.
  8. Bagchi-Chakraborty, J., Francis, A., Bray, T., Masters, L., Tsiantoulas, D., Nus, M., Harrison, J., Broekuizen, M., Leggatt, J., Clatworthy, M., Espeli, M., Smith, K.G.C., Binder, C., Mallat, Z., and Sage, A. “B cell Fc-γ receptor IIb modulates atherosclerosis in male and female mice by controlling adaptive germinal center and innate B-1 cell responses”, Arteriosclerosis, Thrombosis, and Vascular Biology, 2019;39:1379-1389. doi:10.1161/ATVBAHA.118.312272. 
  9. Bashford-Rogers, R.J.M., Bergamaschi, L., McKinney, E.F., Pombal, D.C., Mescia, F., Lee, J.C., Thomas, D.C., Flint, S.M., Kellam, P., Jayne, D.R.W., Lyons, P.A., and Smith, K.G.C. “Analysis of the B cell receptor repertoire in six immune-mediated disease”  Nature, 2019;574:122-126. doi:10.1038/s41586-019-1595-3.
  10. Spencer, S., Kostel Bal, S., Egner, W., Lango Allen, H., Raza, S.I., Ma, C., Gurel, M., Zhang, Y., Sun, G., Sabroe, R., Greene, D., Rae, W., Shahin, T., Kania, K., Ardy, R.C., Thian, M., Staples, E., Pecchia-Bekkum, A., Worrall, W., Stephens, J., Brown, M., Tuna, S., York, M., Shackley, F., Kerrin, D., Sargur, R., Condliffe, A., Tipu, H.N., Kuehn, H.S., Rosenzweig, S., Turro, E., Tavare, S., Thrasher, A., Jodrell, D., Smith, K.G.C., Boztug, K., Milner, J., and Thaventhiran, J. ” Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses” Journal of Experimental Medicine, 2019;216:1986-1998. doi:10.1084/jem.20190344.
  11. Lyons, P.A., Peters, J.E., Alberici, .F., Liley, J., Coulson, R.M.R., Astle, W., Baldini, C., Bonatti, F., Cid, M.C., Elding, H., Emmi, G., Epplen, J., Guillevin, L., Jayne, D.R.W., Jiang, T., Gunnarsson, I., Lamprecht, P., Leslie, S., Little, M.A., Martorana, D., Moosig, F., Neumann, T., Ohlsson, S., Quickert, S., Ramirez, G.A., Rewerska, B., Schett, G., Sinico, R.A., Szczeklik, W., Tesar, V., Vukcevic, D., European Vasculitis Genetics Consortium., Terrier, B., Watts, R.A. Vaglio, A., Holle, J.U., Wallace, C., and Smith, K.G.C. “Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status.”  Nature Communications, 2019;10:5120. doi:10.1038/s41467-019-12515-9.
  12. French, C.E., Delon, I., Dolling, H., Sanchis‑Juan, A., Shamardina, O., Mégy, K., Abbs, S., Austin, T., Bowdin, S., Branco, R.G.,Firth, H., NIHR BioResource—Rare Disease., Next Generation Children Project., Rowitch, D.H. and Raymond, F.L. “Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.”  Intensive Care Medicine, 2019;45:627-636. doi:10.1007/s00134-019-05552-x.

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