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

by Tuijnenburg, Paul, Jansen, Machiel H., Carss, Keren J., Baxendale, Helen, Chandra, Anita, Seneviratne, Suranjith L., Oksenhendler, Eric, Tool, Anton T.J., Whitehorn, Deborah, Turro, Ernest, Thaventhiran, James E., Kuijpers, Taco W., Adhya, Zoe, Anantharachagan, Ariharan, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bibi, Shahnaz, Booth, Claire, Browning, Michael, Burns, Siobhan, Clifford, Hayley, Cooper, Nichola, Davies, Sophie, Devlin, Lisa, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Hackett, Scott, Hague, Rosie, Hayman, Grant, Jolles, Stephen, Jones, Julie, Kelleher, Peter, Klein, Nigel, Kuijpers, Taco, Kumararatne, Dinakantha, Laffan, James, Lango Allen, Hana, Lear, Sara, Longhurst, Hilary, Maimaris, Jesmeen, McDermott, Elizabeth, Morrisson, Valerie, Nasir, Iman, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Samarghitean, Crina, Savic, Sinisa, Seneviratne, Suranjith, Simeoni, Ilenia, Staples, Emily, Steele, Cathal, Thaventhiran, James, Thomas, Moira, Thrasher, Adrian, Worth, Austen, Yong, Patrick, Bradley, John, Hammerton, Tracey, Ouwehand, Willem, Raymond, F Lucy, Veltman, Marijke, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Erwood, Marie, Frary, Amy, Linger, Rachel, Papadia, Sofia, Rehnstrom, Karola, Astle, William, Attwood, Antony, Bleda, Marta, Carss, Keren, Daugherty, Louise, Deevi, Sri, Graf, Stefan, Greene, Daniel, Halmagyi, Csaba, Matser, Vera, Meacham, Stuart, Megy, Karyn, Shamardina, Olga, Titterton, Catherine, Tuna, Salih, Turro, Ernest, von Ziegenweldt, Julie, Furnell, Abigail, Staines, Simon, Stephens, Jonathan, Whitehorn, Deborah, Watt, Christopher
Published in Journal of allergy and clinical immunology (01.10.2018)

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Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

by Coulter, Tanya I., MRCPI, Chandra, Anita, PhD, FRCPath, Bacon, Chris M., PhD, FRCPath, Babar, Judith, MRCP, FRCR, Curtis, James, PhD, Screaton, Nick, FRCP, FRCR, Goodlad, John R., MD, FRCPath, Farmer, George, MD, Steele, Cathal Laurence, MB, Leahy, Timothy Ronan, MRCPI, Doffinger, Rainer, PhD, FRCPath, Baxendale, Helen, PhD, FRCPath, Bernatoniene, Jolanta, PhD, Edgar, J. David M., FRCP, FRCPath, Longhurst, Hilary J., PhD, FRCPath, Ehl, Stephan, MD, PhD, Speckmann, Carsten, MD, Grimbacher, Bodo, MD, PhD, Sediva, Anna, MD, PhD, Milota, Tomas, MD, Faust, Saul N., PhD, FRCPCH, Williams, Anthony P., PhD, FRCPath, Hayman, Grant, FRCP, FRCPath, Kucuk, Zeynep Yesim, MD, Hague, Rosie, MRCP, FRCPH, French, Paul, MD, MRCS, DipFMS, FRCPath, Brooker, Richard, FRCPCH, Forsyth, Peter, FRCPath, Herriot, Richard, FRCP, FRCPath, Cancrini, Caterina, MD, PhD, Palma, Paolo, MD, PhD, Ariganello, Paola, MD, Conlon, Niall, PhD, FRCPath, Feighery, Conleth, PhD, FRCPath, Gavin, Patrick J., MD, Jones, Alison, PhD, FRCPCH, Imai, Kohsuke, MD, PhD, Ibrahim, Mohammad A.A., PhD, FRCP, FRCPath, Markelj, Gašper, MD, Abinun, Mario, MD, PhD, Rieux-Laucat, Frédéric, PhD, Latour, Sylvain, PhD, Pellier, Isabelle, MD, PhD, Fischer, Alain, MD, PhD, Touzot, Fabien, MD, PhD, Casanova, Jean-Laurent, MD, PhD, Durandy, Anne, MD, PhD, Burns, Siobhan O., MD, PhD, Savic, Sinisa, PhD, FRCPath, Kumararatne, D.S., FRCPath, DPhil (Oxon), Moshous, Despina, MD, PhD, Kracker, Sven, PhD, Vanhaesebroeck, Bart, PhD, FMedSci, Okkenhaug, Klaus, PhD, Picard, Capucine, MD, PhD, Nejentsev, Sergey, MD, PhD, Condliffe, Alison M., PhD, FRCP, Cant, Andrew James, MD, FRCP, FRCPH
Published in Journal of allergy and clinical immunology (01.02.2017)

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