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Article

Abolhassani, H; El-Sherbiny, YM; Arumugakani, G; Carter, C; Richards, S; Lawless, D; Wood, P; ... Savic, S; + view all (2019) Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency. Journal of Clinical Immunology 10.1007/s10875-019-00735-z. (In press). Green open access
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Albert, Michael H; Sirait, Tiarlan; Eikema, Dirk-Jan; Bakunina, Katerina; Wehr, Claudia; Suarez, Felipe; Fox, María Laura; ... Morris, Emma C; + view all (2022) Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity, an EBMT IEWP study. Blood , 140 (14) pp. 1635-1649. 10.1182/blood.2022015506. Green open access
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Arno, G; Carss, KJ; Hull, S; Zihni, C; Robson, AG; Fiorentino, A; Hardcastle, AJ; ... Yu, P; + view all (2017) Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. The American Journal of Human Genetics , 100 (2) pp. 334-342. 10.1016/j.ajhg.2016.12.014. Green open access
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Bahal, S; Verma, N; Tadros, S; Lowe, DM; Burns, SO; (2020) A Case of Burkholderia Prostatitis in a Patient with Chronic Granulomatous Disease. Journal of Clinical Immunology , 40 pp. 1204-1206. 10.1007/s10875-020-00833-3. Green open access
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Baptista, MA; Keszei, M; Oliveira, M; Sunahara, KK; Andersson, J; Dahlberg, CI; Worth, AJ; ... Westerberg, LS; + view all (2016) Deletion of Wiskott-Aldrich syndrome protein triggers Rac2 activity and increased cross-presentation by dendritic cells. Nature Communications , 7 , Article 12175. 10.1038/ncomms12175. Green open access
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Battersby, AC; Braggins, H; Pearce, MS; Cale, CM; Burns, SO; Hackett, S; Hughes, S; ... Gennery, AR; + view all (2017) Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom. Journal of Allergy and Clinical Immunology , 140 (2) 628-630.e6. 10.1016/j.jaci.2017.02.029. Green open access
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Battersby, AC; Braggins, H; Pearce, MS; McKendrick, F; Campbell, M; Burns, S; Cale, CM; ... Gennery, AR; + view all (2019) Health-Related Quality of Life and Emotional Health in X-Linked Carriers of Chronic Granulomatous Disease in the United Kingdom. Journal of Clinical Immunology 10.1007/s10875-019-00607-6. (In press). Green open access
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Beilin, C; Choudhuri, K; Bouma, G; Malinova, D; Llodra, J; Stokes, D; Shimaoka, M; ... Burns, S; + view all (2018) Dendritic cell-expressed common gamma-chain recruits IL-15 for trans-presentation at the murine immunological synapse [version 1]. Wellcome Open Research 10.12688/wellcomeopenres.14493.1. Green open access
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Beilin, C; Choudhuri, K; Bouma, G; Malinova, D; Llodra, J; Stokes, DL; Shimaoka, M; ... Burns, SO; + view all (2018) Dendritic cell-expressed common gamma-chain recruits IL-15 for trans-presentation at the murine immunological synapse [version 2; referees: 2 approved]. Wellcome Open Research , 3 , Article 84. 10.12688/wellcomeopenres.14493.2. Green open access
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Blombery, Piers; Pazhakh, Vahid; Albuquerque, Adriana S; Maimaris, Jesmeen; Tu, Lingge; Briones Miranda, Brenda; Evans, Florence; ... Lieschke, Graham J; + view all (2023) Biallelic deleterious germline SH2B3 variants cause a novel syndrome of myeloproliferation and multi-organ autoimmunity. EJHaem , 4 (2) pp. 463-469. 10.1002/jha2.698. Green open access
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Bouma, G; Carter, NA; Recher, M; Malinova, D; Adriani, M; Notarangelo, LD; Burns, SO; ... Thrasher, AJ; + view all (2014) Exacerbated experimental arthritis in Wiskott-Aldrich syndrome protein deficiency: modulatory role of regulatory B cells. Eur J Immunol , 44 (9) 2692 - 2702. 10.1002/eji.201344245. Green open access
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Brown, L-AK; Ruis, C; Clark, I; Roy, S; Brown, JR; Albuquerque, AS; Patel, SY; ... Lowe, DM; + view all (2019) A comprehensive characterization of chronic norovirus infection in immunodeficient hosts. Journal of Allergy and Clinical Immunology , 144 (5) pp. 1450-1453. 10.1016/j.jaci.2019.07.036. Green open access
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Burns, S; Morris, EC; (2021) How I use allogeneic HSCT for adults with inborn errors of immunity. Blood , 138 (18) pp. 1666-1676. 10.1182/blood.2020008187. Green open access
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Burns, SO; Zarafov, A; Thrasher, AJ; (2017) Primary immunodeficiencies due to abnormalities of the actin cytoskeleton. Current Opinion in Hematology , 24 (1) pp. 16-22. 10.1097/MOH.0000000000000296. Green open access
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Campos, LC; Di Colo, G; Dattani, V; Braggins, H; Kumararatne, D; Williams, AP; Alachkar, H; ... Burns, SO; + view all (2021) Long-term outcomes for adults with chronic granulomatous disease in the United Kingdom. Journal of Allergy and Clinical Immunology , 147 (3) pp. 1104-1107. 10.1016/j.jaci.2020.08.034. Green open access
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Carss, KJ; Arno, G; Erwood, M; Stephens, J; Sanchis-Juan, A; Hull, S; Megy, K; ... Raymond, FL; + view all (2017) Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. American Journal of Human Genetics , 100 (1) pp. 75-90. 10.1016/j.ajhg.2016.12.003. Green open access
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Chandra, A; Zhang, F; Gilmour, KC; Webster, D; Plagnol, V; Kumararatne, DS; Burns, SO; ... Thrasher, AJ; + view all (2016) Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter. Journal of Allergy and Clinical Immunology , 137 (3) 940-942.e4. 10.1016/j.jaci.2015.08.049. Green open access
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Coulter, TI; Chandra, A; Bacon, CM; Babar, J; Curtis, J; Screaton, N; Goodlad, JR; ... Cant, AJ; + view all (2016) Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study. J Allergy Clin Immunol 10.1016/j.jaci.2016.06.021. Green open access
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Daza-Cajigal, V; Albuquerque, AS; Pearson, J; Hinley, J; Mason, AS; Stahlschmidt, J; Thrasher, AJ; ... Burns, SO; + view all (2019) Loss of Janus Associated Kinase 1 Alters Urothelial Cell Function and Facilitates the Development of Bladder Cancer. Frontiers in Immunology , 10 , Article 2065. 10.3389/fimmu.2019.02065. Green open access
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Dobbs, K; Tabellini, G; Calzoni, E; Patrizi, O; Martinez, P; Giliani, SC; Moratto, D; ... Notarangelo, LD; + view all (2017) Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56(bright) NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content. Frontiers In Immunology , 8 , Article 798. 10.3389/fimmu.2017.00798. Green open access
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Dobbs, K; Tabellini, G; Calzoni, E; Patrizi, O; Martinez, P; Giliani, SC; Moratto, D; ... Notarangelo, LD; + view all (2017) Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56(bright) NKG2A(+++) Cells, and Yet Display Increased Degranulation and Higher Perforin Content. [Corrigendum]. Frontiers In Immunology , 8 , Article 1244. 10.3389/fimmu.2017.01244. Green open access
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Eletto, D; Burns, SO; Angulo, I; Plagnol, V; Gilmour, KC; Henriquez, F; Curtis, J; ... Nejentsev, S; + view all (2016) Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection. Nature Communications , 7 , Article 13992. 10.1038/ncomms13992. Green open access
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Farmery, JHR; Smith, ML; Lynch, AG; Huissoon, A; Furnell, A; Mead, A; Levine, AP; ... Tan, Y; + view all (2018) Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018). Scientific Reports , 8 , Article 13376. 10.1038/s41598-018-31524-0. Green open access
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Farmery, JHR; Smith, ML; NIHR BioResource - Rare Diseases, .; Lynch, AG; Mead, A; Levine, AP; Manzur, A; ... Huissoon, A; + view all (2018) Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data. Scientific Reports , 8 , Article 1300. 10.1038/s41598-017-14403-y. Green open access
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Fliegauf, Manfred; Kinnunen, Matias; Posadas-Cantera, Sara; Camacho-Ordonez, Nadezhda; Abolhassani, Hassan; Alsina, Laia; Atschekzei, Faranaz; ... Grimbacher, Bodo; + view all (2022) Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50. Frontiers in Immunology , 13 , Article 965326. 10.3389/fimmu.2022.965326. Green open access
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Fox, TA; Kirkwood, AA; Enfield, L; O'Reilly, M; Arulogun, S; D'Sa, S; O'Nions, J; ... Morris, EC; + view all (2021) Low seropositivity and suboptimal neutralisation rates in patients fully vaccinated against COVID-19 with B-cell malignancies. British Journal of Haematology , 195 (5) pp. 706-709. 10.1111/bjh.17836. Green open access
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Fox, Thomas Andrew; Houghton, Benjamin Christopher; Petersone, Lina; Waters, Erin; Edner, Natalie Mona; McKenna, Alex; Preham, Olivier; ... Morris, Emma Catherine; + view all (2022) Therapeutic gene editing of T cells to correct CTLA-4 insufficiency. Science Translational Medicine , 14 (668) , Article eabn5811. 10.1126/scitranslmed.abn5811. Green open access
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Fox, T; Chakraverty, R; Burns, S; Carpenter, B; Thomson, K; Lowe, D; Fielding, A; ... Morris, EC; + view all (2018) Successful outcome following allogeneic hematopoietic stem cell transplantation in adults with primary immunodeficiency. Blood , 131 (8) pp. 917-931. 10.1182/blood-2017-09-807487. Green open access
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Ghosh, S; Köstel Bal, S; Edwards, ESJ; Pillay, B; Jimenez-Heredia, R; Rao, G; Erol Cipe, F; ... Boztug, K; + view all (2020) Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency. Blood , 136 (23) pp. 2638-2655. 10.1182/blood.2020006738. Green open access
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Gorman, KM; Meyer, E; Grozeva, D; Spinelli, E; McTague, A; Sanchis-Juan, A; Carss, KJ; ... Kurian, MA; + view all (2019) Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. American Journal of Human Genetics , 104 (5) pp. 948-956. 10.1016/j.ajhg.2019.03.005. Green open access
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Haimel, M; Pazmandi, J; Jiménez Heredia, R; Dmytrus, J; Bal, SK; Zoghi, S; Van Daele, P; ... Boztug, K; + view all (2022) Curation and Expansion of Human Phenotype Ontology for Defined Groups of Inborn Errors of Immunity. Journal of Allergy and Clinical Immunology , 149 (1) pp. 369-378. 10.1016/j.jaci.2021.04.033. Green open access
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Halliday, Neil; Eden, Nadia; Somers, Henry; Burke, Niall; Silva, Hiroshi; Brito, Camila Gx; Hall, Andrew; ... Thorburn, Douglas; + view all (2024) Common variable immunodeficiency disorder-related liver disease is common and results in portal hypertension and an increased risk of death. Hepatology Communications , 8 (1) , Article e0322. 10.1097/HC9.0000000000000322. Green open access
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Hou, TZ; Olbrich, P; Soto, JML; Sanchez, B; Moreno, PS; Borte, S; Stauss, HJ; ... Neth, O; + view all (2018) Study of an extended family with CTLA-4 deficiency suggests a CD28/CTLA-4 independent mechanism responsible for differences in disease manifestations and severity. Clinical Immunology , 188 pp. 94-102. 10.1016/j.clim.2018.01.001. Green open access
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Hou, TZ; Verma, N; Wanders, J; Kennedy, A; Soskic, B; Janman, D; Halliday, N; ... Sansom, DM; + view all (2017) Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations. Blood , 129 pp. 1458-1468. 10.1182/blood-2016-10-745174. Green open access
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Hurst, JR; Verma, N; Lowe, D; Baxendale, HE; Jolles, S; Kelleher, P; Longhurst, HJ; ... Condliffe, AM; + view all (2017) British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders. The Journal of Allergy and Clinical Immunology: In Practice , 5 (4) pp. 938-945. 10.1016/j.jaip.2017.01.021. Green open access
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Hurst, JR; Warnatz, K; ERS eGLILDnet Clinical Research Collaboration; (2020) Interstitial lung disease in primary immunodeficiency: towards a brighter future. European Respiratory Journal , 55 (4) , Article 2000089. 10.1183/13993003.00089-2020. Green open access
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Israni, Muskan; Alderson, Eliska; Mahlaoui, Nizar; Obici, Laura; Rossi-Semerano, Linda; Lachmann, Helen; Avramovic, Mojca Zajc; ... ERN RITA Transition Working Grp Consortium, Anna; + view all (2025) Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care. Journal of Clinical Immunology , 45 (1) , Article 57. 10.1007/s10875-024-01838-y. Green open access
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Israni, Muskan; Nicholson, Bethany; Mahlaoui, Nizar; Obici, Laura; Rossi-Semerano, Linda; Lachmann, Helen; Hayward, Georgia; ... RITA-ERN, Transition Working Group Consortium; + view all (2022) Current Transition Practice for Primary Immunodeficiencies and Autoinflammatory Diseases in Europe: a RITA-ERN Survey. Journal of Clinical Immunology 10.1007/s10875-022-01345-y. (In press). Green open access
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Khan, KN; El-Asrag, ME; Ku, CA; Holder, GE; McKibbin, M; Arno, G; Poulter, JA; ... for NIHR BioResource-Rare Diseases and UK Inherited Retinal Dise, .; + view all (2017) Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. Investigative Ophthalmology & Visual Science , 58 (7) pp. 2906-2914. 10.1167/iovs.16-20608. Green open access
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Klemann, C; Camacho-Ordonez, N; Yang, L; Eskandarian, Z; Rojas-Restrepo, JL; Frede, N; Bulashevska, A; ... Grimbacher, B; + view all (2019) Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2. Frontiers in Immunology , 10 , Article 297. 10.3389/fimmu.2019.00297. Green open access
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Lawless, D; Geier, CB; Farmer, JR; Lango, HA; Thwaites, D; Atschekzei, F; Brown, M; ... Savic, S; + view all (2018) Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency. Journal of Allergy and Clinical Immunology , 141 (6) pp. 2303-2306. 10.1016/j.jaci.2018.02.007. Green open access
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Lee, PP; Lobato-Márquez, D; Pramanik, N; Sirianni, A; Daza-Cajigal, V; Rivers, E; Cavazza, A; ... Thrasher, AJ; + view all (2017) Wiskott-Aldrich syndrome protein regulates autophagy and inflammasome activity in innate immune cells. Nature Communications , 8 , Article 1576. 10.1038/s41467-017-01676-0. Green open access
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Leiper, A; Houwing, M; Davies, EG; Rao, K; Burns, S; Morris, E; Laven, J; ... Nussey, S; + view all (2020) Anti-Mullerian hormone and Inhibin B after stem cell transplant in childhood: a comparison of myeloablative, reduced intensity and treosulfan-based chemotherapy regimens. Bone Marrow Transplantation 10.1038/s41409-020-0866-9. Green open access
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Leon-Rico, D; Aldea, M; Sanchez-Baltasar, R; Mesa-Nuñez, C; Record, J; Burns, SO; Santilli, G; ... Almarza, E; + view all (2016) Lentiviral Vector-Mediated Correction of a Mouse Model of Leukocyte Adhesion Deficiency Type I. Human Gene Therapy , 27 (9) pp. 668-678. 10.1089/hum.2016.016. Green open access
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Lorenzini, T; Fliegauf, M; Klammer, N; Frede, N; Proietti, M; Bulashevska, A; Camacho-Ordonez, N; ... Grimbacher, B; + view all (2020) Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations. Journal of Allergy and Clinical Immunology , 146 (4) pp. 901-911. 10.1016/j.jaci.2019.11.051. Green open access
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Maccari, ME; Abolhassani, H; Aghamohammadi, A; Aiuti, A; Aleinikova, O; Bangs, C; Baris, S; ... Ehl, S; + view all (2018) Disease evolution and response to rapamycin in Activated Phosphoinositide 3-Kinase delta syndrome: the european society for immunodeficiencies-Activated Phosphoinositide 3-Kinase d syndrome registry. Frontiers in Immunology , 9 , Article 543. 10.3389/fimmu.2018.00543. Green open access
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Maimaris, Jesmeen; O'Sullivan, Anjel; Underhill, Isabella; Green, Ghiselle; Symes, Andrew; Lowe, David; Burns, Siobhan; ... Elfeky, Reem; + view all (2023) Immunoglobulin Replacement Therapy During COVID-19 Pandemic: Practical and Psychological Impact in Patients with Antibody Deficiency. Journal of Clinical Immunology 10.1007/s10875-023-01538-z. (In press). Green open access
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Molnár, E; Radwan, N; Kovács, G; Andrikovics, H; Henriquez, F; Zarafov, A; Hayman, M; ... Gilmour, K; + view all (2020) Key diagnostic markers for Autoimmune Lymphoproliferative Syndrome with molecular genetic diagnosis. Blood , 136 (17) pp. 1933-1945. 10.1182/blood.2020005486. Green open access
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Moran, I; Avery, DT; Payne, K; Lenthall, H; Davies, EG; Burns, S; Ip, W; ... Phan, TG; + view all (2019) B cell–intrinsic requirement for STK4 in humoral immunity in mice and human subjects. Journal of Allergy and Clinical Immunology , 143 (6) pp. 2302-2305. 10.1016/j.jaci.2019.02.010. Green open access
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Morris, EC; Fox, T; Chakraverty, R; Tendeiro, R; Snell, K; Rivat, C; Grace, S; ... Thrasher, AJ; + view all (2017) Gene therapy for Wiskott-Aldrich syndrome in a severely affected adult. Blood , 130 pp. 1327-1335. 10.1182/blood-2017-04-777136. Green open access
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Nowak, K; Linzner, D; Thrasher, AJ; Lambert, PF; Di, WL; Burns, SO; (2017) Absence of γ-chain in keratinocytes alters chemokine secretion resulting in reduced immune cell recruitment. Journal of Investigative Dermatology , 137 (10) pp. 2120-2130. 10.1016/j.jid.2017.05.024. Green open access
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Orf, K; Abbas, A; Abdel-Aziz, K; Burns, SO; (2020) Transverse myelitis in a patient with activated phosphoinositide 3-kinase δ syndrome type 1. Clinical Immunology , 219 , Article 108552. 10.1016/j.clim.2020.108552. Green open access
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Papapietro, O; Chandra, A; Eletto, D; Inglott, S; Plagnol, V; Curtis, J; Maes, M; ... Nejentsev, S; + view all (2020) Topoisomerase 2β mutation impairs early B-cell development. Blood , 135 (17) pp. 1497-1501. 10.1182/blood.2019003299. Green open access
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Plagnol, V; Curtis, J; Epstein, M; Mok, KY; Stebbings, E; Grigoriadou, S; Wood, NW; ... Nejentsev, S; + view all (2012) A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics , 28 (21) 2747 - 2754. 10.1093/bioinformatics/bts526. Gold open access
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Ramsay, I; Gorton, RL; Patel, M; Workman, S; Symes, A; Haque, T; Irish, D; ... Lowe, DM; + view all (2016) Transmission of Hepatitis B Core Antibody and Galactomannan Enzyme Immunoassay Positivity via Immunoglobulin Products: A Comprehensive Analysis. Clinical Infectious Diseases , 63 (1) pp. 57-63. 10.1093/cid/ciw222. Green open access
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Record, J; Sendel, A; Kritikou, JS; Kuznetsov, NV; Brauner, H; He, M; Nagy, N; ... Westerberg, LS; + view all (2019) An intronic deletion in megakaryoblastic leukemia 1 is associated with hyperproliferation of B cells in triplets with Hodgkin lymphoma. Haematologica 10.3324/haematol.2019.216317. (In press). Green open access
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Rhodes, CJ; Batai, K; Bleda, M; Haimel, M; Southgate, L; Germain, M; Pauciulo, MW; ... Winslow, C; + view all (2019) Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis. The Lancet Respiratory Medicine , 7 (3) pp. 227-238. 10.1016/S2213-2600(18)30409-0. Green open access
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Rivers, E; Worth, A; Thrasher, AJ; Burns, SO; (2019) How I manage patients with Wiskott Aldrich syndrome. British Journal of Haematology , 185 (4) pp. 647-655. 10.1111/bjh.15831. Green open access
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Rivers, E; Worth, A; Thrasher, AJ; Burns, SO; (2018) Bleeding and splenectomy in Wiskott-Aldrich syndrome: A single-centre experience. [Letter]. The Journal of Allergy and Clinical Immunology: In Practice 10.1016/j.jaip.2018.07.009. (In press). Green open access
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Roa-Bautista, Adriel; Brown, Li-An K; Tadros, Susan; Burns, Siobhan O; Godbole, Gauri; Lowe, David M; (2023) Clinical Features, Immunological Characteristics, and Treatment Outcomes of Campylobacter spp. Infections in Patients With Common Variable Immunodeficiency. The Journal of Allergy and Clinical Immunology: In Practice 10.1016/j.jaip.2023.06.050. (In press). Green open access
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Ruis, C; Brown, L-AK; Roy, S; Atkinson, C; Williams, R; Burns, SO; Yara-Romero, E; ... Lowe, DM; + view all (2018) Mutagenesis in Norovirus in Response to Favipiravir Treatment. New England Journal of Medicine , 379 (22) pp. 2173-2176. 10.1056/NEJMc1806941. Green open access
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Schejtman, A; Aragão-Filho, WC; Clare, S; Zinicola, M; Weisser, M; Burns, SO; Booth, C; ... Santilli, G; + view all (2020) Lentiviral gene therapy rescues p47phox chronic granulomatous disease and the ability to fight Salmonella infection in mice. Gene Therapy 10.1038/s41434-020-0164-6. (In press). Green open access
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Scheuerlein, P; Pietsch, L; Camacho-Ordonez, N; Reiser, V; Patel, S; Burns, SO; Warnatz, K; (2018) Is It Safe to Switch From Intravenous Immunoglobulin to Subcutaneous Immunoglobulin in Patients With Common Variable Immunodeficiency and Autoimmune Thrombocytopenia? Frontiers in Immunology , 9 , Article 1656. 10.3389/fimmu.2018.01656. Green open access
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Schnell, A; Davrandi, M; Saxenhofer, M; Leboreiro, C; Graeter, S; Moreira, F; Hauswald, M; ... Lowe, DM; + view all (2022) Airway inflammation and dysbiosis in antibody deficiency despite the presence of IgG. The Journal of Allergy and Clinical Immunology , 149 (6) 2105-2115.e10. 10.1016/j.jaci.2021.12.778. Green open access
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Šedivá, A; Milota, T; Litzman, J; Quinti, I; Meyts, I; Burns, S; Jolles, S; (2021) Medical algorithm: Diagnosis and management of antibody immunodeficiencies. Allergy: European Journal of Allergy and Clinical Immunology , 76 (12) pp. 3841-3844. 10.1111/all.14961. Green open access
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Shields, Adrian M; Anantharachagan, Ariharan; Arumugakani, Gururaj; Baker, Kenneth; Bahal, Sameer; Baxendale, Helen; Bermingham, William; ... Richter, Alex G; + view all (2022) Outcomes following SARS-CoV-2 infection in patients with primary and secondary immunodeficiency in the UK. Clinical and Experimental Immunology 10.1093/cei/uxac008. (In press). Green open access
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Shields, Adrian M; Faustini, Sian E; Hill, Harriet J; Al-Taei, Saly; Tanner, Chloe; Ashford, Fiona; Workman, Sarita; ... COV-AD consortium; + view all (2022) SARS-CoV-2 Vaccine Responses in Individuals with Antibody Deficiency: Findings from the COV-AD Study. Journal of Clinical Immunology 10.1007/s10875-022-01231-7. Green open access
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Shields, AM; Burns, SO; Savic, S; Richter, AG; UK PIN COVID-19 Consortium, .; (2021) COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience. Journal of Allergy and Clinical Immunology , 147 (3) 870-875.e1. 10.1016/j.jaci.2020.12.620. Green open access
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Sperlich, JM; Grimbacher, B; Workman, S; Haque, T; Seneviratne, SL; Burns, SO; Reiser, V; ... Lowe, DM; + view all (2018) Respiratory Infections and Antibiotic Usage in Common Variable Immunodeficiency. Journal of Allergy and Clinical Immunology: In Practice , 6 (1) 159-168.e3. 10.1016/j.jaip.2017.05.024. Green open access
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Sprenkeler, EGG; Tool, ATJ; Kreft, IC; van Alphen, FPJ; NBR-RD PID Consortium, NIHR BioResource; Seneviratne, SL; Maimaris, J; ... Kuijpers, TW; + view all (2020) Loss‐of‐function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees. British Journal of Haematology , 191 (5) pp. 930-934. 10.1111/bjh.17081. Green open access
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Steele, CL; Dore, M; Ammann, S; Loughrey, M; Montero, A; Burns, SO; Morris, EC; ... Edgar, DM; + view all (2016) X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis. Journal of Clinical Immunology , 36 (7) pp. 733-738. 10.1007/s10875-016-0320-3. Green open access
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Stubbs, A; Bangs, C; Shillitoe, B; Edgar, JD; Burns, SO; Thomas, M; Alachkar, H; ... Arkwright, PD; + view all (2018) Bronchiectasis and deteriorating lung function in agammaglobulinaemia despite immunoglobulin replacement therapy. Clinical and Experimental Immunology , 191 (2) pp. 212-219. 10.1111/cei.13068. Green open access
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Thaventhiran, JED; Lango Allen, H; Burren, OS; Rae, W; Greene, D; Staples, E; Zhang, Z; ... Smith, KGC; + view all (2020) Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature , 583 pp. 90-95. 10.1038/s41586-020-2265-1. Green open access
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Tuijnenburg, P; Lango Allen, H; Burns, SO; Greene, D; Jansen, MH; Staples, E; Stephens, J; ... NIHR-BioResource – Rare Diseases Consortium, .; + view all (2018) Loss of function NFKB1 variants are the most common monogenic cause of CVID in Europeans. Journal of Allergy and Clinical Immunology , 142 (4) pp. 1285-1296. 10.1016/j.jaci.2018.01.039. Green open access
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Turro, E; Astle, WJ; Megy, K; Gräf, S; Greene, D; Shamardina, O; Allen, HL; ... Ouwehand, WH; + view all (2020) Whole-genome sequencing of patients with rare diseases in a national health system. Nature , 583 pp. 96-102. 10.1038/s41586-020-2434-2. Green open access
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Upasani, Vinit; Townsend, Katie; Wu, Mary Y; Carr, Edward J; Hobbs, Agnieszka; Dowgier, Giulia; Ragno, Martina; ... Lowe, David M; + view all (2023) Commercial Immunoglobulin Products Contain Neutralizing Antibodies Against Severe Acute Respiratory Syndrome Coronavirus 2 Spike Protein. Clinical Infectious Diseases , Article ciad368. 10.1093/cid/ciad368. (In press). Green open access
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van de Geer, A; Nieto-Patlán, A; Kuhns, DB; Tool, ATJ; Arias, AA; Bouaziz, M; de Boer, M; ... Bustamante, J; + view all (2018) Inherited p40^{phox} deficiency differs from classic chronic granulomatous disease. The Journal of Clinical Investigation , 128 (9) pp. 3957-3975. 10.1172/JCI97116. Green open access
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van de Ven, AAJM; Alfaro, TM; Robinson, A; Baumann, U; Bergeron, A; Burns, SO; Condliffe, AM; ... Hurst, JR; + view all (2020) Managing Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders: e-GLILDnet International Clinicians Survey. Frontiers in Immunology , 11 , Article 606333. 10.3389/fimmu.2020.606333. Green open access
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van Schewick, CM; Lowe, DM; Burns, SO; Workman, S; Symes, A; Guzman, D; Moreira, F; ... Grimbacher, B; + view all (2021) Bowel Histology of CVID Patients Reveals Distinct Patterns of Mucosal Inflammation. Journal of Clinical Immunology 10.1007/s10875-021-01104-5. Green open access
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Van Schewick, CM; Nöltner, C; Abel, S; Burns, SO; Workman, S; Symes, A; Guzman, D; ... Grimbacher, B; + view all (2020) Altered Microbiota, Impaired Quality of Life, Malabsorption, Infection, and Inflammation in CVID Patients With Diarrhoea. Frontiers in Immunology , 11 , Article 1654. 10.3389/fimmu.2020.01654. Green open access
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Vandrovcova, J; Salzer, U; Grimbacher, B; Wanders, J; Rao, K; Thrasher, A; Burns, S; ... Cooper, N; + view all (2019) FAS mutations are an uncommon cause of immune thrombocytopenia in children and adults without additional features of immunodeficiency. British Journal of Haematology , 186 (6) e163-e165. 10.1111/bjh.15979. Green open access
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Verma, Nisha; Tadros, Susan; Bahal, Sameer; Lowe, David M; Burns, Siobhan O; (2023) Case of Fatal Meningitis in an Adult Patient with IRAK4 Deficiency. Journal of Clinical Immunology , 43 pp. 1137-1138. 10.1007/s10875-023-01490-y. Green open access
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Verma, N; Burns, SO; Walker, LS; Sansom, DM; (2017) Immune deficiency and autoimmunity in patients with CTLA-4 mutations. Clinical & Experimental Immunology , 190 (1) pp. 1-7. 10.1111/cei.12997. Green open access
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Whitworth, J; Smith, PS; Martin, J-E; West, H; Luchetti, A; Rodger, F; Clark, G; ... Maher, ER; + view all (2018) Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. The American Journal of Human Genetics , 103 (1) pp. 3-18. 10.1016/j.ajhg.2018.04.013. Green open access
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Yang, L; Booth, C; Speckmann, C; Seidel, MG; Worth, AJ; Kindle, G; Lankester, AC; ... Burns, SO; + view all (2022) Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency. Journal of Allergy and Clinical Immunology , 150 (2) pp. 456-466. 10.1016/j.jaci.2021.10.037. Green open access
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Zaman, M; Huissoon, A; Buckland, M; Patel, S; Alachkar, H; Edgar, JD; Thomas, M; ... Arkwright, PD; + view all (2018) Clinical and laboratory features of seventy-eight UK patients with Good's syndrome (thymoma and hypogammaglobulinaemia). Clinical & Experimental Immunology 10.1111/cei.13216. Green open access
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Conference item

Shejtman, A; Aragao Filho, WC; Weisser, M; Zinicola, M; Booth, C; Burns, SO; Siler, U; ... Santilli, G; + view all (2017) Lentiviral Gene Therapy for p47(phox) Deficient Chronic Granulomatous Disease. Presented at: 20th Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT), Washington, DC, United States. Green open access
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Thesis

Nowak, K; (2016) Why do children with severe combined immunodeficiency get warts? The role of the common γ-chain in skin immunity. Doctoral thesis , UCL (University College London). Green open access
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This list was generated on Sun Feb 1 02:35:57 2026 GMT.