Staff Profile

From bedside to bench and back again

I am a clinical paediatric immunologist at the Great North Children's Hospital, which is home to a supra-regional service for children with immune problems. Our research is aimed at finding out (1) the cellular and molecular basis of inborn errors of immunity, teaching us how the immune system works or goes wrong; and (2) how to achieve cure for affected patients, either by stem cell transplantation or through genetic therapies.

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't always be pinpointed. Making a genetic diagnosis is important for both medical and scientific reasons:

(i) 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 stem cell transplant. Unfortunately, this is an unpleasant and risky procedure. We may be able to use targeted treatments to replace the missing function or gene. We can also be better prepared to prevent and treat complications if we know what to expect.

(ii) 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.

Our research addresses these priorities by searching for the underlying cause of unexplained immunodeficiencies, particularly disorders of T cell development. We characterise the faulty immune system in detail to better describe how it is misbehaving. We use 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 and sometimes by studying the mouse equivalents of human disease. 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.

Alongside this scientific discovery, we are working hard on smarter transplant strategies to improve its safety and effectiveness including through our clinical trial, "Haplo+4Kids". By "adding back" memory T cells to grafts that are otherwise depleted of T cells, we hope to achieve earlier immune recovery and protection from viral illness without the risk of graft-versus-host disease, even across tissue type barriers. In this study we are also measuring individual patients' blood levels of chemotherapy medicines. We are starting to adjust doses in real time to avoid over- or under-exposure and accompanying risks of toxicity or graft rejection. We are also part of the MRC Therapeutic Genomics CoRE, which is working towards platform strategies for replacement or repair of the faulty gene within a patient's own cells, if this is known. We collaborate widely with scientists, clinical teams and families to advance these research goals together.

Google Scholar: Click here.

Group members:

Lab manager: Angela Grainger

Project administrator: Thereza Webster

Postdocs: Karin Engelhardt, Jarmila Spegarova, Rui Chen, Helen Griffin, Emma Barlow

Research assistants: Marina Juncosa Shaw, Neve Richardson

PhD students: Lulu Wang, Tom Altmann, Katie McLennan, Zoe Catchpole, Phoebe Hazenberg

Academic clinical lecturers: Ina Schim van der Loeff, Manisha Ahuja

PIs: Sophie Hambleton, Chris Duncan, Su Han Lum

Postgraduate Supervision

We welcome postgraduate students who are interested in translational immunology research.

Funding (SH)

MRC Centre of Research Excellence 2024-2031

MRC programme grant 2024-2028

MRC project grant 2023-2027

MRC DPFS grant 2022-2028

Wellcome Investigator Award 2018-2023

Sir Jules Thorn Charitable Trust Biomedical award 2013-2018

MRC clinician scientist award 2008-2012

Undergraduate Teaching

Extensive experience of mentoring, teaching and assessing students of medicine and biomedical sciences.

Postgraduate Teaching

I teach MRes students in Immunobiology and Genetics and supervise research projects at all levels. I play an active role in postgraduate education within my clinical subspecialty including delivery of registrar training and running study days. I participate in various clinical postgraduate courses including the ESID summer school and Advanced Immunology Winter School. 

• Articles

  • Lum SH, Greener S, Memon IL, Amrolia P, Nademi Z, Chiesa R, Silva J, Young H, Owens S, Williams E, Ng KF, Flood T, Gennery AR, Hambleton S, Rao K, Slatter M. Treosulfan–fludarabine conditioning in infants with severe combined immunodeficiencies: Extended study of the UK paediatric treosulfan study. British Journal of Haematology 2026, 208(5), 1713-1723.
  • Gharahdaghi N, Yeh P-J, Ceron-Gutierrez L, Griffin H, Gordon H, Jayamanne C, Fracchia A, Chong AY, Walsh A, Brain O, Baker K, Kockelbergh H, Luo Y, Guevara Becerra M, Vadakethala K, Coy M, Kabiri L, Barnardo M, Dunachie S, Kronsteiner B, Adams A, Fowler D, Zhang Q, Fachal L, Anderson CA, Desoki R, Vestergaard MV, Larsen L, Wyatt NJ, Lees RD, Mulligan RJ, Dong C, Sharip MT, Faustini SE, Shields A, Pakpoor J, Naz B, Richter A, Satsangi J, Lamb CA, Parkes M, Powrie F, Mentzer AJ, Sazonovs A, Jess T, Klenerman P, Travis S, Hambleton S, Doffinger R, Uhlig HH. Interleukin-10 Autoantibodies and HLA-DRB1*01:03 in Inflammatory Bowel Disease. New England Journal of Medicine 2026, 394(22), 2212-2222.
  • Bousfiha AA, Jeddane L, Moundir A, Poli MC, Aksentijevich I, Cunningham-Rundles C, Hambleton S, Klein C, Morio T, Picard C, Puel A, Rezaei N, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Tangye SG, Meyts I. The 2024 update of IUIS phenotypic classification of human inborn errors of immunity. Journal of Human Immunity 2025, 1(1), e20250002.
  • Beck LC, Sproat T, Lamb CA, Filby A, McDonald D, Masi AC, Young GR, Hambleton S, Embleton ND, Berrington JE, Stewart CJ. Temporal characterisation of the gut microbiome and metabolome in preterm infants. Microbial Genomics 2025, 11(7), 001440.
  • Walsh RB, McNaughton P, Nademi Z, Laberko A, Balashov D, Al-Mousa H, Arkwright PD, Wynn RF, Flood T, Williams E, Cant A, Abinun M, Hambleton S, Slatter M, Gennery AR, Lum SH, Owens S. Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency. Journal of Clinical Immunology 2025, 45(1), 65.
  • Rao G, Mack CD, Nguyen T, Wong N, Payne K, Worley L, Gray PE, Wong M, Hsu P, Stormon MO, Preece K, Suan D, O'Sullivan M, Blincoe AK, Sinclair J, Okada S, Hambleton S, Arkwright PD, Boztug K, Stepensky P, Cooper MA, Bezrodnik L, Nadeau KC, Abolhassani H, Abraham RS, Seppanen MRJ, Beziat V, Bustamante J, Forbes Satter LR, Leiding JW, Meyts I, Jouanguy E, Boisson-Dupuis S, Uzel G, Puel A, Casanova J-L, Tangye SG, Ma CS. Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4⁺ IL-9–expressing cells. Journal of Allergy and Clinical Immunology 2025, 115(4), 1161-1178.
  • Poli MC, Aksentijevich I, Bousfiha AA, Cunningham-Rundles C, Hambleton S, Klein C, Morio T, Picard C, Puel A, Rezaei N, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I, Tangye SG. Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee. Journal of Human Immunity 2025, 1(1), e20250003.
  • Forsyth R, Williams E, Cooke SL, Wright M, Engelhardt KR, Mitra D, Merve A, Joshi A, Stewart GS, Hambleton S. Case Report: Novel neuroinflammatory syndrome associated with TONSL-related SPONASTRIME Dysplasia. Wellcome Open Research 2025, 10, 311.
  • Golwala ZM, Spiridou Goncalves H, Moirangthem RD, Evans G, Lizot S, de Koning C, Garrigue A, Corredera MM, Ocampo-Godinez JM, Howley E, Kricke S, Awuah A, Obiri-Yeboa I, Rai R, Sebire N, Bernard F, Bordon Cueto De Braem V, Boztug K, Cole T, Gennery AR, Hackett S, Hambleton S, Holm M, Kusters MA, Klocperk A, Marzollo A, Marcus N, Nademi Z, Pachlopnik Schmid J, Pichler H, Sellmer A, Soler-Palacin P, Soomann M, Torpiano P, van Montfrans J, Nierkens S, Adams S, Buckland M, Gilmour K, Worth A, Thrasher AJ, Davies EG, Andre I, Kreins AY. Ex vivo T-lymphopoiesis assays assisting corrective treatment choice for genetically undefined T-lymphocytopenia. Clinical Immunology 2025, 274, 110453.
  • Tsilifis C, Spegarova JS, Good R, Griffin H, Engelhardt KR, Graham S, Hughes S, Arkwright PD, Hambleton S, Gennery AR. Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3. Journal of Clinical Immunology 2024, 44(4), 98.
  • Griffin H, Ceron-Gutierrez L, Gharahdaghi N, Ebrahimi S, Davies S, Loo PS, Szabo A, Williams E, Mukhopadhyay A, McLoughlin L, Irwin S, Travis S, Klenerman P, Bunn S, Cant AJ, Hambleton S, Uhlig HH, Doffinger R. Neutralizing Autoantibodies against Interleukin-10 in Inflammatory Bowel Disease. New England Journal of Medicine 2024, 391(5), 434-441.
  • van der Made C, Kersten S, Chorin O, Engelhardt KR, Ramakrishnan G, Griffin H, van der Loeff IS, Venselaar H, Rothschild AR, Segev M, Schuurs-Hoeijmakers JHM, Mantere T, Essers R, Esteki MZ, Avital AL, Loo PS, Simons A, Pfundt R, Warris A, Seyger MM, van de Veerdonk F, Netea MG, Slatter MA, Flood T, Gennery AR, Simon AM, Lev A, Frizinsky S, Barel O, van der Burg M, Somech R, Hambleton S, Henriet SRVS, Hoischen A. Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit b- type 10 in six infants with SCID-Omenn syndrome. American Journal of Human Genetics 2024, 111(4), 791-804.
  • Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Mignot C, Heron D, Drunat S, Verloes A, Moore R, Metcalfe A, Kohler S, Zonneveld-Huijssoon E, Kerstjens Frederikse WS, Abbott KM, van Gijn M, Ruvolo D, Roelofs-Prins D, Neerincx PB, van der Vries G, van der Velde JK, Swertz MA, Carneiro F, Ferreira P, Garrido L, Fernandes S, Gullo I, Ferreira M, Jose CS, Barbosa-Matos R, Peters S, Sommer AK, Spier I, Aretz S, Neri M, Bigoni S, Gualandi F, Selvatici R, Ferlini A, Piluso G, Zanobio M, Zeuli R, Torella A, Banfi S, Pinelli M, Morleo M, Nigro V, Smal N, Millevert C, Stamberger H, Weckhuysen S, De Ridder W, Van de Vondel L, Van de Vondel L, de Jonghe P, De Winter J, de Vries G, Baets J, Timmerman V, Muller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Rohrer J, Moloney P, Bellampalli R, Sisodiya SM, Magrinelli F, Cali E, Morsy H, Efthymiou S, Vandrovcova J, Reilly M, Houlden H, Hanna M, Costa A, Robert G, Danis D, Robinson P, Spalding D, Thomas C, Freeberg M, Keane T, Parkinson H, Krebsova A, Dolezalova P, Liskova P, Ryba L, Havlovicova M, Frankova V, Kremlikova RP, Thomasova D, Turnovec M, Macek M, Stojkovic T, Atalaia A, Cohen E, Eymard B, Metay C, Ben Yaou R, Nelson I, Allamand V, Evangelista T, Bonne G, Coarelli G, Heinzmann A, Guillot-Noel L, Davoine C-S, Durr A, Stevanin G, Lebreton E, Lucano C, Chahdil M, Hongnat O, Lagorce D, Hanauer M, Rath A, Bros-Facer V, Gumus G, Raineri E, Gut M, Dabad M, Codina AE, Pico D, Hernandez C, Fernandez-Callejo M, Corvo A, Papakonstantinou A, Matalonga L, Piscia D, Gut IG, Couturier V, Bruel A-L, Duffourd Y, Denomme-Pichon A-S, Vitobello A, Thauvin C, Faivre L, Jackson A, Alexander E, Banka S, Clayton-Smith J, Engelhardt K, Hambleton S, Manera JD, Bettolo CM, Straub V, et al. Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses. npj Genomic Medicine 2024, 9(1), 49.
  • Lum SH, James B, Ottaviano G, Ewins A-M, Patrick K, Ali S, Carpenter B, Silva J, Tewari S, Furness C, Thomas A, Shenton G, Bonney D, Moppett J, Hambleton S, Gennery AR, Amrolia P, Gibson B, Hough R, Rao K, Slatter M, Wynn R. Alemtuzumab, Dual Graft-versus-Host Disease Prophylaxis, and Lower CD3+ T Cell Doses Equalize Rates of Acute and Chronic Graft-versus-Host Disease in Pediatric Patients Receiving Allogeneic Hematopoietic Stem Cell Transplantation with Matched Unrelated Donor Peripheral Blood Stem Cells or Bone Marrow Grafts. Transplantation and Cellular Therapy 2024, 30(3), 314.e1-314.e12.
  • Stremenova Spegarova J, Sinnappurajar P, Al Julandani D, Navickas R, Griffin H, Ahuja M, Grainger A, Livingstone K, Rice GI, Sutherland F, Hayes C, Parke S, Pang L, Roderick MR, Slatter M, Crow Y, Ramanan AV, Hambleton S. A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant. Journal of Clinical Investigation 2024, 134(13), e179193.
  • Chen R, Lukianova E, van der Loeff IS, Spegarova JS, Willet JDP, James KD, Ryder EJ, Griffin H, IJspeert H, Gajbhiye A, Lamoliatte F, Marin-Rubio JL, Woodbine L, Lemos H, Swan DJ, Pintar V, Sayes K, Ruiz-Morales ER, Eastham S, Dixon D, Prete M, Prigmore E, Jeggo P, Boyes J, Mellor A, Huang L, van der Burg M, Engelhardt KR, Stray-Pedersen A, Erichsen HC, Gennery AR, Trost M, Adams DJ, Anderson G, Lorenc A, Trynka G, Hambleton S. NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome. Science Immunology 2024, 9(95), eade5705.
  • Block J, Rashkova C, Castanon I, Zoghi S, Platon J, Ardy RC, Fujiwara M, Chaves B, Schoppmeyer R, van der Made CI, Jimenez Heredia R, Harms FL, Alavi S, Alsina L, Sanchez Moreno P, Ávila Polo R, Cabrera-Pérez R, Kostel Bal S, Pfajfer L, Ransmayr B, Mautner AK, Kondo R, Tinnacher A, Caldera M, Schuster M, Domínguez Conde C, Platzer R, Salzer E, Boyer T, Brunner HG, Nooitgedagt-Frons JE, Iglesias E, Deyà-Martinez A, Camacho-Lovillo M, Menche J, Bock C, Huppa JB, Pickl WF, Distel M, Yoder JA, Traver D, Engelhardt KR, Linden T, Kager L, Hannich JT, Hoischen A, Hambleton S, Illsinger S, Da Costa L, Kutsche K, Chavoshzadeh Z, van Buul JD, Antón J, Calzada-Hernández J, Neth O, Viaud J, Nishikimi A, Dupré L, Boztug K. Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency. New England Journal of Medicine 2023, 389(6), 527-539.
  • Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stulpnagel C, Smedley D, Pochiero F, Mari F, Ramesh V, Capra V, Mancardi M, Keren B, Mignot C, Lulli M, Parks K, Griffin H, Brugger M, Nigro V, Hirata Y, Koichihara R, Peterlin B, Maki R, Nitta Y, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Brown MA, Caulfield MJ, Chan GC, Giess A, Griffin JN, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Lakey A, Leigh SEA, Leong IUS, Lopez JF, Maleady-Crowe F, McEntagart M, Minneci F, Mitchell J, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM, Zarowiecki M, Torella A, Tohyama J, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration. American Journal of Human Genetics 2023, 110(8), 1356-1376.
  • Uhlig HH, Booth C, Cho J, Dubinsky M, Griffiths AM, Grimbacher B, Hambleton S, Huang Y, Jones K, Kammermeier J, Kanegane H, Koletzko S, Kotlarz D, Klein C, Lenardo MJ, Lo B, McGovern DPB, Ozen A, de Ridder L, Ruemmele F, Shouval DS, Snapper SB, Travis SP, Turner D, Wilson DC, Muise AM. Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards. Nature Reviews Gastroenterology and Hepatology 2023, 20, 810–828.
  • Mehta P, Tsilifis C, Lum SH, Slatter MA, Hambleton S, Owens S, Williams E, Flood T, Gennery AR, Nademi Z. Outcome of Second Allogeneic HSCT for Patients with Inborn Errors of Immunity: Retrospective Study of 20 Years’ Experience. Journal of Clinical Immunology 2023, 43, 1812–1826.
  • Bucciol G, Moens L, Ogishi M, Rinchai D, Matuozzo D, Momenilandi M, Kerrouche N, Cale CM, Treffeisen ER, Al Salamah M, Al-Saud BK, Lachaux A, Duclaux-Loras R, Meignien M, Bousfiha A, Benhsaien I, Shcherbina A, Roppelt A, Gothe F, Houhou-Fidouh N, Hackett SJ, Bartnikas LM, Maciag MC, Alosaimi MF, Chou J, Mohammed RW, Freij BJ, Jouanguy E, Zhang SY, Boisson-Dupuis S, Beziat V, Zhang Q, Duncan CJ, Hambleton S, Casanova JL, Meyts I. Human inherited complete STAT2 deficiency underlies inflammatory viral diseases. Journal of Clinical Investigation 2023, 133(12), e168321.
  • Ramanathan S, Veramendi-Espinoza L, Shillitoe B, Flinn A, Owens S, Williams E, Emonts M, Hambleton S, Burton-Fanning S, Waugh S, Flood T, Gennery AR, Slatter M, Nademi Z. Haploidentical CD3+ TCR αβ/CD19+–depleted HSCT for MHC class II deficiency and persistent SARS-CoV-2 pneumonitis. Journal of Allergy and Clinical Immunology 2023, 2(1), 101-104.
  • Kammermeier J, Lamb CA, Jones KDJ, Anderson CA, Baple EL, Bolton C, Braggins H, Coulter TI, Gilmour KC, Gregory V, Hambleton S, Hartley D, Hawthorne AB, Hearn S, Laurence A, Parkes M, Russell RK, Speight RA, Travis S, Wilson DC, Uhlig HH. Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition. The Lancet Gastroenterology and Hepatology 2023, 8(3), 271-286.
  • Dirvanskyte P, Gurram B, Bolton C, Warner N, Jones KDJ, Griffin HR, Park JY, Keller K-M, Gilmour KC, Hambleton S, Muise AM, Wysocki C, Uhlig HH. Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease. Journal of Crohn's and Colitis 2023, 17(1), 49-60.
  • Ramanathan S, Lum SH, Nademi Z, Carruthers K, Watson H, Flood T, Owens S, Williams E, Hambleton S, Gennery AR, Slatter M. CD3+TCRαβ/CD19+-Depleted Mismatched Family or Unrelated Donor Salvage Stem Cell Transplantation for Graft Dysfunction in Inborn Errors of Immunity. Transplantation and Cellular Therapy 2023, 29(8), 513.e1-513.e9.
  • Hanrath AT, Hatton CF, Gothe F, Browne C, Vowles J, Leary P, Cockell SJ, Cowley SA, James WS, Hambleton S, Duncan CJA. Type I Interferon receptor (IFNAR2) deficiency reveals Zika virus cytopathicity in human macrophages and microglia. Frontiers in Immunology 2022, 13, 1035532.
  • Tsilifis C, Lum SH, Nademi Z, Hambleton S, Flood TJ, Williams EJ, Owens S, Abinun M, Cant AJ, Slatter MA, Gennery AR. TCRαβ-Depleted Haploidentical Grafts Are a Safe Alternative to HLA-Matched Unrelated Donor Stem Cell Transplants for Infants with Severe Combined Immunodeficiency. Journal of Clinical Immunology 2022, 42, 851-858.
  • Pelham SJ, Caldirola MS, Avery DT, Mackie J, Rao G, Gothe F, Peters TJ, Guerin A, Neumann D, Vokurkova D, Hwa V, Zhang W, Lyu S-C, Chang I, Manohar M, Nadeau KC, Gaillard MI, Bezrodnik L, Iotova V, Zwirner NW, Gutierrez M, Al-Herz W, Goodnow CC, Vargas-Hernandez A, Forbes Satter LR, Hambleton S, Deenick EK, Ma CS, Tangye SG. STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis. Journal of Allergy and Clinical Immunology 2022, 150(4), 931-946.
  • Duncan CJA, Skouboe MK, Howarth S, Hollensen AK, Chen R, Borresen ML, Thompson BJ, Spegarova JS, Hatton CF, Staeger FF, Andersen MK, Whittaker J, Paludan SR, Jorgensen SE, Thomsen MK, Mikkelsen JG, Heilmann C, Buhas D, Orbo NF, Bay JT, Marquart HV, De la Morena MT, Klejka JA, Hirschfeld M, Bogwardt L, Forss I, Masmas T, Poulsen A, Noya F, Rouleau G, Hansen T, Zhou S, Abrechtsen A, Alizadehfar R, Allenspach EJ, Hambleton S, Mogensen TH. Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic. Journal of Experimental Medicine 2022, 219(6), e20212427.
  • Ghimenton E, Flinn A, Lum SH, Leahy TR, Nademi Z, Owens S, Williams E, Flood T, Hambleton S, Slatter M, Gennery AR. Hematopoietic Cell Transplantation for Adenosine Deaminase Severe Combined Immunodeficiency—Improved Outcomes in the Modern Era. Journal of Clinical Immunology 2022, 42, 819-826.
  • Jackson RM, Hatton CF, Spegarova JS, Georgiou M, Collin J, Stephenson E, Verdon B, Haq IJ, Hussain R, Coxhead JM, Mudhar H-S, Wagner B, Hasoon M, Davey T, Rooney P, Khan A, Ward C, Brodlie M, Haniffa M, Hambleton S, Armstrong L, Figueiredo F, Queen R, Duncan CJ, Lako M. Conjunctival epithelial cells resist productive SARS-CoV-2 infection. Stem Cell Reports 2022, 17(7), 1699-1713.
  • van der Velden FJS, Van Delft F, Owens S, Llevadias J, McKean M, Pulford L, Taha Y, Williamson G, Campbell-Hewson Q, Hambleton S, Payne RP, Duncan C, Johnston C, Spegarova J, Emonts M. Case report: severe acute pulmonary COVID-19 in a teenager post autologous hematopoietic stem cell transplant. Frontiers in Pediatrics 2022, 10, 809061.
  • Cheetham TD, Cole M, Abinun M, Allahabadia A, Barratt T, Davies JH, Dimitri P, Drake A, Mohamed Z, Murray RD, Steele CA, Zammitt N, Carnell S, Prichard J, Watson G, Hambleton S, Matthews JNS, Pearce SHS. Adjuvant Rituximab-Exploratory Trial in Young People With Graves Disease. Journal of Clinical Endocrinology and Metabolism 2022, 107(3), 743-754.
  • Gothe F, Stremenova Spegarova J, Hatton CF, Griffin H, Sargent T, Cowley SA, James W, Roppelt A, Shcherbina A, Hauck F, Reyburn HT, Duncan CJA, Hambleton S. Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency. Journal of Allergy and Clinical Immunology 2022, 150(4), 955-964.e16.
  • Gothe F, Hatton CF, Truong L, Klimova Z, Kanderova V, Fejtkova M, Grainger A, Bigley V, Perthen J, Mitra D, Janda A, Fronkova E, Maravicikova D, Hambleton S, Duncan CJA. A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis. Clinical Infectious Diseases 2022, 74(1), 136-139.
  • Krishna MT, Beck S, Gribbin N, Nasser S, Turner PJ, Hambleton S, Sargur R, Whyte A, Bethune C. The Impact of COVID-19 Pandemic on Adult and Pediatric Allergy & Immunology Services in the UK National Health Service. Journal of Allergy and Clinical Immunology: In Practice 2021, 9(2), 709-722.e2.
  • Keller B, Strohmeier V, Harder I, Unger S, Payne KJ, Andrieux G, Boerries M, Felixberger PT, Landry JJM, Nieters A, Rensing-Ehl A, Salzer U, Frede N, Usadel S, Elling R, Speckmann C, Hainmann I, Ralph E, Gilmour K, Wentink MWJ, van der Burg M, Kuehn HS, Rosenzweig SD, Kolsch U, von Bernuth H, Kaiser-Labusch P, Gothe F, Hambleton S, Vlagea AD, Garcia AG, Alsina L, Markelj G, Avcin T, Vasconcelos J, Guedes M, Ding J-Y, Ku C-L, Shadur B, Avery DT, Venhoff N, Thiel J, Becker H, Erazo-Borras L, Trujillo-Vargas CM, Franco JL, Fieschi C, Okada S, Gray PE, Uzel G, Casanova J-L, Fliegauf M, Grimbacher B, Eibel H, Ehl S, Voll RE, Rizzi M, Stepensky P, Benes V, Ma CS, Bossen C, Tangye SG, Warnatz K. The expansion of human T-bet^highCD21^low B cells is T cell dependent. Science Immunology 2021, 6(64).
  • Lum SH, Elfeky R, Achini FR, Margarit-Soler A, Cinicola B, Perez-Heras I, Nademi Z, Flood T, Cheetham T, Worth A, Qasim W, Amin R, Rao K, Chiesa R, Bredius RGM, Amrolia P, Abinun M, Hambleton S, Veys P, Gennery AR, Lankester A, Slatter M. Outcome of Non-hematological Autoimmunity After Hematopoietic Cell Transplantation in Children with Primary Immunodeficiency. Journal of Clinical Immunology 2021, 41, 171-184.
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  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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 IRF8^K108E mutation. Blood 2014, 124(12), 1894-1904.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.

• Book Chapter

  • Hambleton S. STAT2. In: Stiehm's Immune Deficiencies. Amsterdam: Academic Press, 2014, pp.721-725.

• Conference Proceedings (inc. Abstracts)

  • Abinun M, Lilic D, Devlin L, Christie S, Edgar D, Depner M, Fuchs S, Grimbacher B, Cant A, Flood T, Hambleton S, Gennery A, Nademi Z, Slatter M. Successful Allogeneic Haematopoietic Stem Cell Transplantation In A Child With Severe Immunodeficiency 31-C (OMIM # 614162) Due To STAT1-GOF Mutation. In: UKPIN 2015. 2015, Wiley-Blackwell.
  • 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.
  • 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.

• Editorials

  • Hambleton S. When the STATs are against you. Blood 2016, 127(25), 3109-3110.
  • Hambleton S. A Better Grip: T Cells Strengthen Our Hand against Influenza. Clinical Infectious Diseases 2011, 52(1), 8-9.

• Letters

  • Ramanathan S, Roberts W, Nademi Z, Shenton G, Watson H, Matthews E, Carruthers K, Gennery AR, Hambleton S, Slatter M, Lum SH. CD3⁺TCRαβ/CD19⁺-depleted stem cell boost and CD45RO⁺ memory T-cell add-back as a successful salvage treatment for poor graft function unresponsive to eltrombopag, following a second allogenic HSCT. Pediatric Blood and Cancer 2024, 71(10), e31203.
  • Lum SH, Flood T, Hambleton S, McNaughton P, Watson H, Abinun M, Owens S, Cigrovski N, Cant A, Gennery AR, Slatter M. Two decades of excellent transplant survival for chronic granulomatous disease: A supraregional immunology transplant center report. Blood 2019, 133(23), 2546-2549.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.

• Reviews

  • Mantoan Ritter L, Annear NMP, Baple EL, Ben-Chaabane LY, Bodi I, Brosson L, Cadwgan JE, Coslett B, Crosby AH, Davies DM, Daykin N, Dedeurwaerdere S, Duhring Fenger C, Dunlop EA, Elmslie FV, Girodengo M, Hambleton S, Jansen AC, Johnson SR, Kearley KC, Kingswood JC, Laaniste L, Lachlan K, Latchford A, Madsen RR, Mansour S, Mihaylov SR, Muhammed L, Oliver C, Pepper T, Rawlins LE, Schim van der Loeff I, Siddiqui A, Takhar P, Tatton-Brown K, Tee AR, Tibarewal P, Tye C, Ultanir SK, Vanhaesebroeck B, Zare B, Pal DK, Bateman JM. mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node. Orphanet Journal of Rare Diseases 2025, 20(1), 256.
  • Peters NE, Shields AM, Hambleton S, Richter AG. Learning from inborn errors of immunity and secondary immune deficiencies about vaccine immunogenicity, efficacy, and safety. Clinical and Experimental Immunology 2025, 219(1), uxaf059.
  • Gothe F, Howarth S, Duncan CJ, Hambleton S. Monogenic susceptibility to live viral vaccines. Current Opinion in Immunology 2021, 72, 167-175.
  • Duncan CJA, Hambleton S. Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy. Journal of Clinical Immunology 2021, 41(7), 1446-1456.
  • Duncan CJA, Randall RE, Hambleton S. Genetic Lesions of Type I Interferon Signalling in Human Antiviral Immunity. Trends in Genetics 2021, 37(1), 46-58.
  • Hambleton S. Catching the wave. Science 2021, 371(6536), 1309-1310.
  • Duncan CJA, Hambleton S. Varicella zoster virus immunity: A primer. Journal of Infection 2015, 71(Suppl. 1), S47-S53.
  • Duncan CJA, Hambleton S. Host genetic factors in susceptibility to mycobacterial disease. Clinical Medicine 2014, 14(Suppl. 6), s17-s21.
  • 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.
  • Collin M, Bigley V, Haniffa M, Hambleton S. Human dendritic cell deficiency: the missing ID?. Nature Reviews Immunology 2011, 11(9), 575-583.