Professor Sophie Hambleton
Professor of Paediatrics & Immunology
- Email: email@example.com
- Telephone: +44 (0) 191 208 7139
- Fax: +44 (0) 191 208 7179
- Address: Primary Immunodeficiency Group
Institute of Cellular Medicine
3rd Floor, William Leech Building
Newcastle upon Tyne
From bedside to bench and back again - my research is all about what children with inherited immunodeficiencies can teach us about the normal immune system, and how that knowledge can help us look after patients better. I am a clinical paediatric immunologist at the Great North Children's Hospital, which is home to a supra-regional service for children with primary immunodeficiencies. My work is aimed at understanding the cellular and molecular basis of novel primary immunodeficiencies, and how this informs our knowledge of the normal immune system.
The human immune system has evolved to protect us from a bewildering array of germs, a job it usually performs unnoticed. We can think of the immune system as a network of armed forces that cooperate to defend us. When one element of these defences is weakened, it can leave us critically exposed to certain threats. Unusual or severe infections in young children can indicate a problem with the genes that determine how our immune system works. If affected children survive, they may suffer ongoing ill-health owing to chronic infection, stunted growth and lung damage. Sometimes this is accompanied by other problems such as the "friendly fire" of autoimmune disease or blood cancers. This type of immunodeficiency tends to run in families and is commoner in children whose parents are related to each other.
At the Great North Children's Hospital (GNCH), we care for hundreds of patients with inherited immunodeficiency, but the faulty gene can be pinpointed in fewer than half. Making a genetic diagnosis is important for two main reasons, one medical and one scientific:
(1) An accurate diagnosis can help doctors and families make the right treatment decisions. Many immunodeficiencies can now be cured by replacing the immune system with a bone marrow transplant. Unfortunately, this is an unpleasant and risky procedure. Scientists continue to work on smarter methods to replace or repair just the faulty gene. Where cure is not possible we can take steps to prevent and treat complications if we know what to expect.
(2) Linking the faulty gene to the resulting pattern of disease tells us about its normal function. By studying individuals with inherited immunodeficiency, we can learn a great deal about what is important for human immunity. This knowledge can also help us understand the ways germs get round our immune system to cause disease.
My research addresses both these priorities by searching for the underlying cause of unexplained immunodeficiencies. The children we study are past and present patients of the GNCH, many of whom generously contribute small samples of blood and other tissues for research. First, we carefully review the patient's medical and laboratory information and make sure known causes of immunodeficiency have been ruled out. Then we use a variety of modern DNA sequencing methods to look for genetic changes that may link with disease. We test the strength of that link within the family and the wider population. We try to find out how the genetic change interferes with normal immune function by experiments in the test tube.
As soon as a linked genetic change is confirmed, this can be fed back to the clinical team and inform patient care. Families can then benefit from genetic counselling and the possibility of early diagnosis for other affected family members. We share our research findings with the medical community at large so that patients with a similar disease pattern can be screened for the same genetic problem. We believe our work will lead to improved scientific understanding of human immunity, which is fundamentally important to health and disease.
Primary immunodeficiencies (PIDs) represent a rich resource for hypothesis-generating research on the human immune system. My aim is to elucidate disease mechanism in novel inherited disorders of cellular immunity. My group studies well-characterised patients presenting in childhood with otherwise unexplained susceptibility to intracellular pathogens and/or immune dysregulation. A variety of methods are used to identify candidate disease-causing gene variants, including whole exome sequencing and homozygosity mapping. Selected variants are taken forward for biochemical and functional validation by tailored analyses of biobanked material. In recent years we have identified novel defects of T cells, antigen-presenting cells and innate antiviral immunity that have each contributed important mechanistic insights into human immunobiology.
By comparison with genetically engineered mouse models, a forward genetic approach to human PID offers inherent scientific advantages such as (1) increased relevance of findings to human immunity in the natural environment, (2) a definite and clinically important phenotype, (3) freedom from preconceptions as to candidate genes. PIDs thus represent critically important human models in which to discover and explore the function of individual genes and pathways. A major advantage of our work is its direct relevance to patient care by extending the possibility of molecular diagnosis, with attendant benefits in terms of timely and tailored treatment and genetic counselling.
I welcome postgraduate students who are interested in translational immunology research.
Sir Jules Thorn Charitable Trust Biomedical award 2013-2017
MRC clinician scientist award 2008-2012
Academy of Medical Sciences
Extensive experience of mentoring, teaching and assessing students of medicine and biomedical sciences.
I play an active role in postgraduate education within my clinical subspecialty including delivery of registrar training and running study days. I teach on two masters programmes (MRes Immunobiology module, MSc Genomics) and supervise students carrying out research projects at all levels.
- Schepp J, Chou J, Skrabl-Baumgartner A, Arkwright PD, Engelhardt KR, Hambleton S, Morio T, Rother E, Warnatz K, Geha R, Grimbacher B. 14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency. Frontiers in Immunology 2017, 8.
- Tangye SG, Pillay B, Randall KL, Avery DT, Phan TG, Gray P, Ziegler JB, Smart JM, Peake J, Arkwright PD, Hambleton S, Orange J, Goodnow CC, Uzel G, Casanova J-L, Lugo Reyes SO, Freeman AF, Su HC, Ma CS. Dedicator of cytokinesis 8-deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells. Journal of Allergy and Clinical Immunology 2017, 139(3), 933–949.
- Duncan CJA, Dinnigan E, Theobald R, Grainger A, Skelton AJ, Hussain R, Willet JDP, Swan DJ, Coxhead J, Thomas MF, Thomas J, Zamvar V, Slatter MA, Cant AJ, Engelhardt KR, Hambleton S. Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in TNFAIP3 (A20). Annals of the Rheumatic Diseases 2017, Epub ahead of print.
- Engelhardt KR, Xu Y, Grainger A, Germani Batacchi MGC, Swan DJ, Willet JDP, Abd Hamid IJ, Agyeman P, Barge D, Bibi S, Jenkins L, Flood TJ, Abinun M, Slatter MA, Gennery AR, Cant AJ, Santibanez Koref M, Gilmour K, Hambleton S. Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing. Journal of Clinical Immunology 2017, 37(1), 42-50.
- 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 LSK, Sansom DM. Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations. Blood 2017, 129(11), 1458-1468.
- Ma CA, Xi L, Cauff B, DeZure A, Freeman AF, Hambleton S, Kleiner G, Leahy TR, O'Sullivan M, Makiya M, O'Regan G, Pittaluga S, Niemela J, Stoddard J, Rosenzweig SD, Raffeld M, Klion AD, Milner JD. Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea. Blood 2017, 129(5), 650-653.
- Shah RM, Elfeky R, Nademi Z, Qasim W, Amrolia P, Chiesa R, Rao K, Lucchini G, Silva JMF, Worth A, Barge D, Ryan D, Conn J, Cant AJ, Skinner R, Abd Hamid IJ, Flood T, Abinun M, Hambleton S, Gennery AR, Veys P, Slatter M. T-cell receptor αβ+ and CD19+ cell-depleted haploidentical and mismatched hematopoietic stem cell transplantation in primary immune deficiency. Journal of Allergy and Clinical Immunology 2017, (ePub ahead of print).
- Brent J, Guzman D, Bangs C, Grimbacher B, Fayolle C, Huissoon A, Bethune C, Thomas M, Patel S, Jolles S, Alachkar H, Kumaratne D, Baxendale H, Edgar JD, Helbert M, Hambleton S, Arkwright PD. Clinical and laboratory correlates of lung disease and cancer in adults with idiopathic hypogammaglobulinaemia. Clinical & Experimental Immunology 2016, 184(1), 73-82.
- Slatter M, Nademi Z, Leahy TR, Morillo-Gutierrez B, Dunn J, Barge D, Skinner R, Ryan C, Hambleton S, Abinun M, Flood T, Cant A, Gennery A. Haploidentical CD3 TCRαβ and CD19-depleted second stem cell transplant for steroid-resistant acute skin graft versus host disease. Journal of Allergy and Clinical Immunology 2016, 138(2), 603-605.
- Nademi Z, Slatter MA, Dvorak CC, Neven B, Fischer A, Suarez F, Booth C, Rao K, Laberko A, Rodina J, Bertrand Y, Koltan S, Debski R, Flood T, Abinun M, Gennery AR, Hambleton S, Ehl S, Cant AJ. Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome. Journal of Allergy and Clinical Immunology 2016, 139(6), 1046-1049.
- Slatter MA, Engelhardt KR, Burroughs LM, Arkwright PD, Nademi Z, Skoda-Smith S, Hagin D, Kennedy A, Barge D, Flood T, Abinun M, Wynn RF, Gennery AR, Cant AJ, Sansom D, Hambleton S, Torgerson TR. Hematopoietic stem cell transplantation for CTLA4 deficiency. Journal of ALlergy and Clinical Immunology 2016, 138(2), 615-619.
- Ma CS, Wong N, Rao G, Nguyen A, Avery DT, Payne K, Torpy J, O'Young P, Deenick E, Bustamante J, Puel A, Okada S, Kobayashi M, Martinez-Barricarte R, Elliott M, Kilic SS, El Baghdadi J, Minegishi Y, Bousfiha A, Robertson N, Hambleton S, Arkwright PD, French M, Blincoe AK, Hsu P, Campbell DE, Stormon MO, Wong M, Adelstein S, Fulcher DA, Cook MC, Stepensky P, Boztug K, Beier R, Ikinciogullari A, Ziegler JB, Gray P, Picard C, Boisson-Dupuis S, Phan TG, Grimbacher B, Warnatz K, Holland SM, Uzel G, Casanova JL, Tangye SG. Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets. Journal of Experimental Medicine 2016, 213(8), 1589-1608.
- Hambleton S. When the STATs are against you. Blood 2016, 127(25), 3109-3110.
- Savic S, Parry D, Carter C, Johnson C, Logan C, Gutierrez BM, Thomas JE, Bacon CM, Cant A, Hambleton S. A new case of Fas-associated death domain protein deficiency and update on treatment outcomes. Journal of Allergy and Clinical Immunology 2015, 136(2), 502-505.
- Speckmann C, Doerken S, Aiuti A, Albert MH, Al-Herz W, Allende LM, Scarselli A, Avcin T, Perez-Becker R, Cancrini C, Cant A, Di Cesare S, Finocchi A, Fischer A, Gaspar HB, Ghosh S, Gennery A, Gilmour K, Gonzalez-Granado LI, Martinez-Gallo M, Hambleton S, Hauck F, Hoenig M, Moshous D, Neven B, Niehues T, Notarangelo L, Picard C, Rieber N, Schulz A, Schwarz K, Seidel MG, Soler-Palacin P, Stepensky P, Strahm B, Vraetz T, Warnatz K, Winterhalter C, Worth A, Fuchs S, Uhlmann A, Ehl S. A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis. Journal of Allergy and Clinical Immunology 2015, 139(4), 1302-1310.e4.
- Robertson N, Engelhardt KR, Morgan NV, Barge D, Cant AJ, Hughes SM, Abinun M, Xu YB, Koref MS, Arkwright PD, Hambleton S. Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis. Journal of Clinical Immunology 2015, 35(7), 598-603.
- Milner JD, Vogel TP, Forbes L, Ma CA, Stray-Pedersen A, Niemela JE, Lyons JJ, Engelhardt KR, Zhang Y, Topcagic N, Roberson EDO, Matthews H, Verbsky JW, Dasu T, Vargas-Hernandez A, Varghese N, McClain KL, Karam LB, Nahmod K, Makedonas G, Mace EM, Sorte HS, Perminow G, Rao VK, O'Connell MP, Price S, Su HC, Butrick M, McElwee J, Hughes JD, Willet J, Swan D, Xu Y, Santibanez-Koref M, Slowik V, Dinwiddie DL, Ciaccio CE, Saunders CJ, Septer S, Kingsmore SF, White AJ, Cant AJ, Hambleton S, Cooper MA. Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. Blood 2015, 125(4), 591-599.
- Duncan CJA, Mohamad SMB, Young DF, Skelton AJ, Leahy TR, Munday DC, Butler KM, Morfopoulou S, Brown JR, Hubank M, Connell J, Gavin PJ, McMahon C, Dempsey E, Lynch NE, Jacques TS, Valappil M, Cant AJ, Breuer J, Engelhardt KR, Randall RE, Hambleton S. Human IFNAR2 deficiency: lessons for antiviral immunity. Science Translational Medicine 2015, 7(307), 307ra154.
- Okada S, Markle JG, Deenick EK, Mele F, Averbuch D, Lagos M, Alzahrani M, Al-Muhsen S, Halwani R, Ma CS, Wong N, Soudais C, Henderson LA, Marzouqa H, Shamma J, Gonzalez M, Martinez-Barricarte R, Okada C, Avery DT, Latorre D, Deswarte C, Jabot-Hanin F, Torrado E, Fountain J, Belkadi A, Itan Y, Boisson B, Migaud M, Arlehamn CSL, Sette A, Breton S, McCluskey J, Rossjohn J, de Villartay JP, Moshous D, Hambleton S, Latour S, Arkwright PD, Picard C, Lantz O, Engelhard D, Kobayashi M, Abel L, Cooper AM, Notarangelo LD, Boisson-Dupuis S, Puel A, Sallusto F, Bustamante J, Tangye SG, Casanova JL. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations. Science 2015, 349(6248), 606-613.
- Turley AJ, Gathmann B, Bangs C, Bradbury M, Seneviratne S, Gonzalez-Granado LI, Hackett S, Kutukculer N, Alachkar H, Hambleton S, Ritterbusch H, Kralickova P, Marodi L, Seidel MG, Dueckers G, Roesler J, Huissoon A, Baxendale H, Litzman J, Arkwright PD. Spectrum and Management of Complement Immunodeficiencies (Excluding Hereditary Angioedema) Across Europe. Journal of Clinical Immunology 2015, 35(2), 199-205.
- Reynolds B, Hambleton S, Dammann D, Lambert H, Emonts M. Troublesome Thai travels. Archives of Disease in Childhood Education and Practice Edition 2015, 100(3), 166-167.
- Duncan CJA, Hambleton S. Varicella zoster virus immunity: A primer. Journal of Infection 2015, 71(Suppl. 1), S47-S53.
- Rensing-Ehl A, Volkl S, Speckmann C, Lorenz MR, Ritter J, Janda A, Abinun M, Pircher H, Bengsch B, Thimme R, Fuchs I, Ammann S, Allgauer A, Kentouche K, Cant A, Hambleton S, da Cunha CB, Huetker S, Kuhnle I, Pekrun A, Seidel MG, Hummel M, Mackensen A, Schwarz K, Ehl S. Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency. Blood 2014, 124(6), 851-860.
- Kharya G, Nademi Z, Leahy T, Brigham K, Barge D, Hambleton S, Abinun M, Flood T, Cant A, Slatter M, Gennery A. Common Gamma chain- and JAK3-deficient SCID, conditioned versus unconditioned transplant: a single centre experience. In: 40th Annual Meeting of the European Group for Blood and Marrow Transplantation. 2014, Milan, Italy: Nature Publishing Group.
- Lu W, Zhang Y, McDonald DO, Jing HE, Carroll B, Robertson N, Zhang Q, Griffin H, Sanderson S, Lakey JH, Morgan NV, Reynard LN, Zheng L, Murdock HM, Turvey SE, Hackett SJ, Prestidge T, Hall JM, Cant AJ, Matthews HF, Koref MFS, Simon AK, Korolchuk VI, Lenardo MJ, Hambleton S, Su HC. Dual Proteolytic Pathways Govern Glycolysis and Immune Competence. Cell 2014, 159(7), 1578-1590.
- Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WXL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CCR, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I. Early- Onset Stroke and Vasculopathy Associated with Mutations in ADA2. New England Journal of Medicine 2014, 370(10), 911-920.
- Salem S, Langlais D, Lefebvre F, Bourque G, Bigley V, Haniffa M, Casanova JL, Burk D, Berghuis A, Butler KM, Leahy TR, Hambleton S, Gros P. Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8K108E mutation. Blood 2014, 124(12), 1894-1904.
- Elfeky R, Nademi Z, Brigham K, Barge D, Hambleton S, Abinun M, Flood T, Cant A, Slatter M, Gennery A. Haematopoietic stem cell transplantation for RAG1/2 severe combined immunodeficiency or Omenn syndrome: a single centre experience. In: 40th Annual Meeting of the European Group for Blood and Marrow Transplantation. 2014, Milan, Italy: Nature Publishing Group.
- Duncan CJA, Hambleton S. Host genetic factors in susceptibility to mycobacterial disease. Clinical Medicine 2014, 14(Suppl. 6), s17-s21.
- Lane JR, Evans PTG, Nademi Z, Barge D, Jackson A, Hambleton S, Flood TJ, Cant AJ, Abinun M, Slatter MA, Gennery AR. Low-Dose Serotherapy Improves Early Immune Reconstitution after Cord Blood Transplantation for Primary Immunodeficiencies. Biology of Blood and Marrow Transplantation 2014, 20(2), 243-249.
- O'Reilly S, Cant R, Ciechomska M, Finnegan J, Oakley F, Hambleton S, van Laar JM. Serum Amyloid A (SAA) induces IL-6 in dermal fibroblasts via TLR2, IRAK4 and NF-κB. Immunology 2014, Accepted article.
- O'Reilly S, Cant R, Ciechomska M, Finnigan J, Oakley F, Hambleton S, van Laar JM. Serum amyloid A induces interleukin-6 in dermal fibroblasts via Toll-like receptor 2, interleukin-1 receptor-associated kinase 4 and nuclear factor-kappa B. Immunology 2014, 143(3), 331-340.
- Nademi Z, Slatter M, Gambineri E, Mannurita SC, Barge D, Hodges S, Bunn S, Thomas J, Haugk B, Hambleton S, Flood T, Cant A, Abinun M, Gennery A. Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Bone Marrow Transplantation 2014, 49(2), 310-312.
- Hambleton S. STAT2. In: Stiehm's Immune Deficiencies. Amsterdam: Academic Press, 2014, pp.721-725.
- Dickinson RE, Milne P, Jardine L, Zandi S, Swierczek SI, McGovern N, Cookson S, Ferozepurwalla Z, Langridge A, Pagan S, Gennery A, Heiskanen-Kosma T, Hamalainen S, Seppanen M, Helbert M, Tholouli E, Gambineri E, Reykdal S, Gottfreosson M, Thaventhiran JE, Morris E, Hirschfield G, Richter AG, Jolles S, Bacon CM, Hambleton S, Haniffa M, Bryceson Y, Allen C, Prchal JT, Dick JE, Bigley V, Collin M. The evolution of cellular deficiency in GATA2 mutation. Blood 2014, 123(6), 863-874.
- Slatter M, Nademi Z, Patel S, Barge D, Valappil M, Brigham K, Hambleton S, Clark J, Flood T, Cant A, Abinun M, Gennery A. Haploidentical hematopoietic stem cell transplantation can lead to viral clearance in severe combined immunodeficiency. Journal of Allergy and Clinical Immunology 2013, 131(6), 1705-1708.e1.
- Rensing-Ehl A, Janda A, Lorenz MR, Gladstone BP, Fuchs I, Abinun M, Albert M, Butler K, Cant A, Cseh AM, Ebinger M, Goldacker S, Hambleton S, Hebart H, Houet L, Kentouche K, Kuhnle I, Lehmberg K, Mejstrikova E, Niemeyer C, Minkov M, Neth O, Duckers G, Owens S, Rosler J, Schilling FH, Schuster V, Seidel MG, Smisek P, Sukova M, Svec P, Wiesel T, Gathmann B, Schwarz K, Vach W, Ehl S, Speckmann C. Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia. Haematologica 2013, 98(12), 1948-1955.
- Hambleton S, Goodbourn S, Young DF, Dickinson P, Mohamad SMB, Valappil M, McGovern N, Cant AJ, Hackett SJ, Ghazal P, Morgan NV, Randall RE. STAT2 deficiency and susceptibility to viral illness in humans. Proceedings of the National Academy of Sciences of the United States of America 2013, 110(8), 3053-3058.
- Ciechomska M, Huigens CA, Hugle T, Stanly T, Gessner A, Griffits B, Radstake TR, Hambleton S, O'Reilly S, van Laar JM. Toll-like receptor-mediated, enhanced production of profibrotic TIMP-1 in monocytes from patients with systemic sclerosis: role of serum factors. Annals of Rheumatic Disease 2013, 72(8), 1382-1389.
- Plagnol V, Curtis J, Epstein M, Mok KY, Stebbings E, Grigoriadou S, Wood NW, Hambleton S, Burns SO, Thrasher AJ, Kumararatne D, Doffinger R, Nejentsev S. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics 2012, 28(21), 2747-2754.
- Bate J, Chisholm J, Skinner R, Breuer J, Ramsay M, Wheatley K, Hambleton S, Heath PT. Varicella post-exposure prophylaxis in children with cancer: urgent need for a randomised controlled trial. Archives of Disease in Childhood 2012, 97(9), 853-854.
- Hambleton S, Salem S, Bustamente J, Bigley V, Boisson-Dupuis S, Azevedo J, Fortin A, Haniffa M, Ceron-Gutierrez C, Bacon CM, Menon G, Trouillet C, McDonald D, Carey P, Ginhoux F, Alsina L, Zumwalt TJ, Kong X, Kumararatne D, Butler K, Hubeau M, Feinberg J, Al-Muhsen S, Cant A, Abel L, Chaussabel D, Doffinger R, Talesnik E, Grumach A, Duarte A, Abarca K, Moraes-Vasconcelos D, Burk D, Berghuis A, Geissmann F, Collin M, Casanova J-L, Gros P. IRF8 Mutations and Human Dendritic-Cell Immunodeficiency. New England Journal of Medicine 2011, 365(2), 127-138.
- Hambleton S. A Better Grip: T Cells Strengthen Our Hand against Influenza. Clinical Infectious Diseases 2011, 52(1), 8-9.
- Dickinson RE, Griffin H, Bigley V, Reynard LN, Hussain R, Haniffa M, Lakey JH, Rahman T, Wang XN, McGovern N, Pagan S, Cookson S, McDonald D, Chua I, Wallis J, Cant A, Wright M, Keavney B, Chinnery PF, Loughlin J, Hambleton S, Santibanez-Koref M, Collin M. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood 2011, 118(10), 2656-2658.
- Passerini L, Olek S, Di Nunzio S, Barzaghi F, Hambleton S, Abinun M, Tommasini A, Vignola S, Cipolli M, Amendola M, Naldini L, Guidi L, Cecconi M, Roncarolo MG, Bacchetta R. Forkhead box protein 3 (FOXP3) mutations lead to increased T(H)17 cell numbers and regulatory T-cell instability. Journal of Allergy and Clinical Immunology 2011, 128(6), 1376-1379.e1.
- Collin M, Bigley V, Haniffa M, Hambleton S. Human dendritic cell deficiency: the missing ID?. Nature Reviews Immunology 2011, 11(9), 575-583.
- Moratto D, Giliani S, Bonfim C, Mazzolari E, Fischer A, Ochs HD, Cant AJ, Thrasher AJ, Cowan MJ, Albert MH, Small T, Pai SY, Haddad E, Lisa A, Hambleton S, Slatter M, Cavazzana-Calvo M, Mahlaoui N, Picard C, Torgerson TR, Burroughs L, Koliski A, Zanis-Neto J, Porta F, Qasim W, Veys P, Kavanau K, Hönig M, Schulz A, Friedrich W, Notarangelo LD. Long-term outcome and lineage-specific chimerism in 194 Wiskott-Aldrich Syndrome patients treated by hematopoietic cell transplantation between 1980-2009: an international collaborative study. Blood 2011, 118(6), 1675-1684.
- Morgan NV, Goddard S, Cardno TS, McDonald D, Rahman F, Barge D, Ciupek A, Straatman-Iwanowska A, Pasha S, Guckian M, Anderson G, Huissoon A, Cant A, Tate WP, Hambleton S, Maher ER. Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells. Journal of Clinical Investigation 2011, 121(2), 695-702.
- Bate J, Chisholm J, Heath P, Breuer J, Skinner R, Manley S, Patel S, Wheatley K, Ramsay M, Kearns P, Hambleton S. PEPtalk: post-exposure prophylaxis against varicella in children with cancer. Archives of Disease in Childhood 2011, 96(9), 841-845.
- Slatter MA, Angus B, Windebank K, Taylor A, Meaney C, Lester T, Norbury G, Hambleton S, Abinun M, Flood TJ, Cant AJ, Gennery AR. Polymorphous lymphoproliferative disorder with Hodgkin-like features in common gamma-chain-deficient severe combined immunodeficiency. Journal of Allergy and Clinical Immunology 2011, 127(2), 533-535.
- Fisher JPH, Bate J, Hambleton S. Preventing varicella in children with malignancies: what is the evidence?. Current Opinion in Infectious Diseases 2011, 24(3), 203-211.
- Bigley V, Haniffa M, Doulatov S, Wang XN, Dickinson R, McGovern N, Jardine L, Pagan S, Dimmick I, Chua I, Wallis J, Lordan J, Morgan C, Kumararatne DS, Doffinger R, van der Burg M, van Dongen J, Cant A, Dick JE, Hambleton S, Collin M. The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. Journal of Experimental Medicine 2011, 208(2), 227-234.
- Slatter MA, Rao K, Amrolia P, Flood T, Abinun M, Hambleton S, Nademi Z, Goulden N, Davies G, Qasim W, Gaspar HB, Cant A, Gennery AR, Veys P. Treosulfan-based conditioning regimens for hematopoietic stem cell transplantation in children with primary immunodeficiency: United Kingdom experience. Blood 2011, 117(16), 4367-4375.
- Rensing-Ehl A, Warnatz K, Fuchs S, Schlesier M, Salzer U, Draeger R, Bondzio I, Joos Y, Janda A, Gomes M, Abinun M, Hambleton S, Cant A, Shackley F, Flood T, Waruiru C, Beutel K, Siepermann K, Dueckers G, Niehues T, Wiesel T, Schuster V, Seidel MG, Minkov M, Sirkia K, Kopp MV, Korhonen M, Schwarz K, Ehl S, Speckmann C. Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency. Clinical Immunology 2010, 137(3), 357-365.
- Purvis HA, Stoop JN, Mann J, Woods S, Kozijn AE, Hambleton S, Robinson JH, Isaacs JD, Anderson AE, Hilkens CMU. Low-strength T-cell activation promotes Th17 responses. Blood 2010, 116(23), 4829-4837.
- Bolze A, Byun M, McDonald D, Morgan NV, Abhyankar A, Premkumar L, Puel A, Bacon CM, Rieux-Laucat F, Pang K, Britland A, Abel L, Cant A, Maher ER, Riedl SJ, Hambleton S, Casanova J-L. Whole-exome-sequencing-based discovery of human FADD deficiency. American Journal of Human Genetics 2010, 87(6), 873-881.
- Hambleton S, Steinberg SP, Gershon MD, Gershon AA. Cholesterol dependence of Varicella-Zoster virion entry into target cells. Journal of Virology 2007, 81(14), 7548-7558.