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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

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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