Siobhan Burns

Professor of Translational Immunology

Research area

Primary Immunodeficiency Disorders.

Research programme

• Immunodeficiency

Research summary

Primary Immunodeficiency Disorders (PID) are inherited conditions where specific components of the immune system are missing or defective. This results in severe and frequent infections, often accompanied by autoimmunity and inflammation.

Our group is focused on understanding the underlying molecular and cellular mechanisms that give rise to PID. We have a particular interest in how genetic mutations associated with PID impact the function of immune cells, particularly innate immune cells, such as neutrophils and dendritic cells.

We utilise a number of experimental approaches to examine immune cell function including human blood cells, cell line models of PID generated through targeted silencing of immune genes and murine models of PID.

Our work closely collaborates with national research aimed at identifying the genes that cause PID. We are developing deep phenotyping and functional assays to compliment genetic analysis and improve our ability to identify patients suitable for tailored therapies.

Patient involvement

I am Clinical Lead for the Immunology Department at the Royal Free London NHS Trust, which is located within  the Institute. Our clinical team cares for over 600 patients with PID, almost 300 of whom receive immunoglobulin  replacement therapy. For most, we do not yet know the underlying causes of their condition.

We have many research studies taking place in the department which we invite our patients to enrol for. These include projects to examine immune genes and immune cells that will give us more insight into the causes of PID and help us  to design better diagnosis and treatment options.

We also run clinical trials of immunoglobulin replacement  therapy to assist pharmaceutical companies with monitoring and improving immunoglobulin products.

Publications

Selected publications

• Fox TA, Chakraverty R, Burns S, Carpenter B, Thomson K, Lowe D, Fielding A, Peggs K, Kottaridis P, Uttenthal B, Bigley V, Buckland M, Grandage V, Denovan S, Grace S, Dahlstrom J, Workman S, Symes A, Mackinnon S, Hough R, Morris E. Successful outcome following allogeneic hematopoietic stem cell transplantation in adults with primary immunodeficiency. Blood. 2018;131:917-931
• Lawless D, Geier CB, Farmer JR, Lango HA, Thwaites D, Atschekzei F, Brown M, Buchbinder D, Burns SO, Butte MJ, Csomos K, Deevi SVV, Egner W, Ehl S, Eibl MM, Fadugba O, Foldvari Z, Green DM, Henrickson SE, Holland SM, John T, Klemann C, Kuijpers TW, Moreira F, Piller A, Rayner-Matthews P, Romberg ND, Sargur R, Schmidt RE, Schröder C, Schuetz C, Sharapova SO, Smith KGC, Sogkas G, Speckmann C, Stirrups K, Thrasher AJ, Wolf HM, Notarangelo LD, Anwar R, Boyes J, Ujhazi B; NIHR BioResource - Rare Diseases Consortium, Thaventhiran J, Walter JE, Savic S. Prevalence and clinical challenges among adult primary immunodeficiency patients with RAG deficiency. J Allergy Clin Immunol. 2018. pii:S0091-6749(18)30292-6
• Tuijnenburg P, Lango Allen H, Burns SO, Greene D, Jansen MH, Staples E, Stephens J, Carss KJ, Biasci D, Baxendale H, Thomas M, Chandra A, Kiani-Alikhan S, Longhurst HJ, Seneviratne SL, Oksenhendler E, Simeoni I, de Bree GJ, Tool ATJ, van Leeuwen EMM, Ebberink EHTM, Meijer AB, Tuna S, Whitehorn D, Brown M, Turro E, Thrasher AJ, Smith KGC, Thaventhiran JE, Kuijpers TW; NIHR BioResource-Rare Diseases Consortium. Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. J Allergy Clin Immunol. 2018;pii:S0091-6749(18)30286-0
• Lee PP, Lobato-Márquez D, Pramanik N, Sirianni A, Daza-Cajigal V, Rivers E, Cavazza A, Bouma G, Moulding D, Hultenby K, Westerberg LS, Hollinshead M, Lau YL, Burns SO, Mostowy S, Bajaj-Elliott M, Thrasher AJ. Wiskott-Aldrich syndrome protein regulates autophagy and inflammasome activity in innate immune cells. Nat Commun. 2017;8:1576
• Dobbs K, Tabellini G, Calzoni E, Patrizi O, Martinez P, Giliani SC, Moratto D, Al-Herz W, Cancrini C, Cowan M, Bleesing J, Booth C, Buchbinder D, Burns SO, Chatila TA, Chou J, Daza-Cajigal V, Ott de Bruin LM, de la Morena M, Di Matteo G, Finocchi A, Geha R, Goyal RK, Hayward A, Holland S, Huang CH, Kanariou MG, King A, Kaplan B, Kleva A, Kuijpers TW, Lee BW, Lougaris V, Massaad M, Meyts I, Morsheimer M, Neven B, Pai SY, Plebani A, Prockop S, Reisli I, Soh JY, Somech R, Torgerson TR, Kim YJ, Walter JE, Gennery AR, Keles S, Manis JP, Marcenaro E, Moretta A, Parolini S, Notarangelo LD. 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. Front Immunol. 2017;8:798
• Sperlich JM, Grimbacher B, Workman S, Haque T, Seneviratne SL, Burns SO, Reiser V, Vach W, Hurst JR, Lowe DM. Respiratory Infections and Antibiotic Usage in Common Variable Immunodeficiency. J Allergy Clin Immunol Pract. 2018;6:159-168.e3
• Morris EC, Fox T, Chakraverty R, Tendeiro R, Snell K, Rivat C, Grace S, Gilmour K, Workman S, Buckland K, Butler K, Chee R, Salama AD, Ibrahim H, Hara H, Duret C, Mavilio F, Male F, Bushman FD, Galy A, Burns SO, Gaspar HB, Thrasher AJ. Gene therapy for Wiskott-Aldrich syndrome in a severely affected adult. Blood. 2017;130:1327-1335
• Nowak K, Linzner D, Thrasher AJ, Lambert PF, Di WL, Burns SO. Absence of γ-Chain in Keratinocytes Alters Chemokine Secretion, Resulting in Reduced Immune Cell Recruitment. J Invest Dermatol. 2017;137:2120-2130
• Battersby AC, Braggins H, Pearce MS, Cale CM, Burns SO, Hackett S, Hughes S, Barge D, Goldblatt D, Gennery AR. Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom. J Allergy Clin Immunol. 2017;140:628-630.e6
• Hou TZ, Verma N, Wanders J, Kennedy A, Soskic B, Janman D, Halliday N, Rowshanravan B, Worth A, Qasim W, Baxendale H, Stauss H, Seneviratne S, Neth O, Olbrich P, Hambleton S, Arkwright PD, Burns SO, Walker LS, Sansom DM. Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations. Blood. 2017;129:1458-1468
• Burns SO, Zarafov A, Thrasher AJ. Primary immunodeficiencies due to abnormalities of the actin cytoskeleton. Curr Opin Hematol. 2017;24:16-22
• Eletto D, Burns SO, Angulo I, Plagnol V, Gilmour KC, Henriquez F, Curtis J, Gaspar M, Nowak K, Daza-Cajigal V, Kumararatne D, Doffinger R, Thrasher AJ, Nejentsev S. Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection. Nat Commun. 2016;7:13992
• Record J, Malinova D, Zenner HL, Plagnol V, Nowak K, Syed F, Bouma G, Curtis J, Gilmour K, Cale C, Hackett S, Charras G, Moulding D, Nejentsev S, Thrasher AJ, Burns SO. Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1. Blood. 2015;126:1527-35.

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