Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

著者: Tuijnenburg, Paul, Lango Allen, Hana, Burns, Siobhan O., Greene, Daniel, Jansen, Machiel H., Staples, Emily, Stephens, Jonathan, Carss, Keren J., Biasci, Daniele, Baxendale, Helen, Thomas, Moira, Chandra, Anita, Kiani-Alikhan, Sorena, Longhurst, Hilary J., Seneviratne, Suranjith L., Oksenhendler, Eric, Simeoni, Ilenia, de Bree, Godelieve J., Tool, Anton T.J., van Leeuwen, Ester M.M., Ebberink, Eduard H.T.M., Meijer, Alexander B., Tuna, Salih, Whitehorn, Deborah, Brown, Matthew, Turro, Ernest, Thrasher, Adrian J., Smith, Kenneth G.C., Thaventhiran, James E., Kuijpers, Taco W.
出版年 J Allergy Clin Immunol (2018)

Whole genome sequencing of a sporadic primary immunodeficiency cohort

著者: Thaventhiran, James E. D., Allen, Hana Lango, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H. R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J, Stephens, Jonathan, Deevi, Sri V.V., Sanchis-Juan, Alba, Gleadall, Nicholas S, Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel, Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H, Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud, Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Lyons, Paul A., Hurles, Matthew E., Savic, Sinisa, Burns, Siobhan O., Kuijpers, Taco W., Turro, Ernest, Ouwehand, Willem H., Thrasher, Adrian J., Smith, Kenneth G. C.
出版年 Nature (2020)