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Chen, Rui, Lukianova, Elena, van der Loeff, Ina Schim, Spegarova, Jarmila Stremenova, Willet, Joseph D.P., James, Kieran D., Ryder, Edward J., Griffin, Helen, IJspeert, Hanna, Gajbhiye, Akshada, Lamoliatte, Frederic, Marin-Rubio, Jose L., Woodbine, Lisa, Lemos, Henrique, Swan, David J., Pintar, Valeria, Sayes, Kamal, Ruiz-Morales, Elias R., Eastham, Simon, Dixon, David, Prete, Martin, Prigmore, Elena, Jeggo, Penny, Boyes, Joan, Mellor, Andrew, Huang, Lei, van der Burg, Mirjam, Engelhardt, Karin R., Stray-Pedersen, Asbjørg, Erichsen, Hans Christian, Gennery, Andrew R., Trost, Matthias, Adams, David J., Anderson, Graham, Lorenc, Anna, Trynka, Gosia and Hambleton, Sophie (2024) NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome. Science Immunology, 9 (95). ISSN 2470-9468

Swan, David, Aschenbrenner, Dominik, Lamb, Christopher A, Chakraborty, Krishnendu, Clark, Jonathan, Pandey, Sumeet, Engelhardt, Karin R, Chen, Rui, Cavounidis, Athena, Ding, Yuchun, Krasnogor, Natalio, Carey, Christopher D, Acres, Meghan, Needham, Stephanie, Cant, Andrew J, Arkwright, Peter D, Chandra, Anita, Okkenhaug, Klaus, Uhlig, Holm H and Hambleton, Sophie (2019) Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of -encoded phosphoinositide 3-kinase δ. Haematologica, 104 (10). e483-e486. ISSN 0390-6078

Anzilotti, Consuelo, Swan, David, Boisson, Bertrand, Deobagkar-Lele, Mukta, Oliveira, Catarina, Chabosseau, Pauline, Engelhardt, Karin R, Xu, Xijin, Chen, Rui, Alvarez, Luis, Berlinguer-Palmini, Rolando, Bull, Katherine R, Cawthorne, Eleanor, Cribbs, Adam P, Crockford, Tanya L, Dang, Tarana Singh, Fearn, Amy, Fenech, Emma J, de Jong, Sarah J, Lagerholm, B Christoffer, Ma, Cindy S, Sims, David, van den Berg, Bert, Xu, Yaobo, Cant, Andrew J, Kleiner, Gary, Leahy, T Ronan, de la Morena, M Teresa, Puck, Jennifer M, Shapiro, Ralph S, van der Burg, Mirjam, Chapman, J Ross, Christianson, John C, Davies, Benjamin, McGrath, John A, Przyborski, Stefan, Santibanez Koref, Mauro, Tangye, Stuart G, Werner, Andreas, Rutter, Guy A, Padilla-Parra, Sergi, Casanova, Jean-Laurent, Cornall, Richard J, Conley, Mary Ellen and Hambleton, Sophie (2019) An essential role for the Zn transporter ZIP7 in B cell development. Nature immunology, 20 (3). pp. 350-361. ISSN 1529-2916

Acres, Meghan J, Gothe, Florian, Grainger, Angela, Skelton, Andrew J, Swan, David, Willet, Joseph D P, Leech, Suzy, Galcheva, Sonya, Iotova, Violeta, Hambleton, Sophie and Engelhardt, Karin R (2018) Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain. Journal of allergy and clinical immunology, 143 (1). 413-416.e4. ISSN 0091-6749

Duncan, Christopher J A, Dinnigan, Emma, Theobald, Rachel, Grainger, Angela, Skelton, Andrew J, Hussain, Rafiqul, Willet, Joseph D P, Swan, David, Coxhead, Jonathan, Thomas, Matthew F, Thomas, Julian, Zamvar, Veena, Slatter, Mary A, Cant, Andrew J, Engelhardt, Karin R and Hambleton, Sophie (2018) Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in (A20). Annals of the rheumatic diseases, 77 (5). pp. 783-786. ISSN 1468-2060

Engelhardt, Karin R, Xu, Yaobo, Grainger, Angela, Germani Batacchi, Mila G C, Swan, David, Willet, Joseph D P, Abd Hamid, Intan J, Agyeman, Philipp, Barge, Dawn, Bibi, Shahnaz, Jenkins, Lucy, Flood, Terence J, Abinun, Mario, Slatter, Mary A, Gennery, Andrew R, Cant, Andrew J, Santibanez Koref, Mauro, Gilmour, Kimberly and Hambleton, Sophie (2017) Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing. Journal of clinical immunology, 37 (1). pp. 42-50. ISSN 1573-2592

Dang, Tarana Singh, Willet, Joseph D P, Griffin, Helen R, Morgan, Neil V, O'Boyle, Graeme, Arkwright, Peter D, Hughes, Stephen M, Abinun, Mario, Tee, Louise J, Barge, Dawn, Engelhardt, Karin R, Jackson, Michael, Cant, Andrew J, Maher, Eamonn R, Koref, Mauro Santibanez, Reynard, Louise N, Ali, Simi and Hambleton, Sophie (2016) Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency. Journal of clinical immunology, 36 (2). pp. 117-22. ISSN 1573-2592

Milner, Joshua D., Vogel, Tiphanie P., Forbes, Lisa, Ma, Chi A., Stray-Pedersen, Asbjørg, Niemela, Julie E., Lyons, Jonathan J., Engelhardt, Karin R., Zhang, Yu, Topcagic, Nermina, Roberson, Elisha D. O., Matthews, Helen, Verbsky, James W., Dasu, Trivikram, Vargas-Hernandez, Alexander, Varghese, Nidhy, McClain, Kenneth L., Karam, Lina B., Nahmod, Karen, Makedonas, George, Mace, Emily M., Sorte, Hanne S., Perminow, Gøri, Rao, V. Koneti, O’Connell, Michael P., Price, Susan, Su, Helen C., Butrick, Morgan, McElwee, Joshua, Hughes, Jason D., Willet, Joseph, Swan, David, Xu, Yaobo, Santibanez-Koref, Mauro, Slowik, Voytek, Dinwiddie, Darrell L., Ciaccio, Christina E., Saunders, Carol J., Septer, Seth, Kingsmore, Stephen F., White, Andrew J., Cant, Andrew J., Hambleton, Sophie and Cooper, Megan A. (2015) Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. Blood, 125 (4). pp. 591-599. ISSN 0006-4971