Staff Profile

The work in our group aims at identifying gene mutation(s) causing inborn errors of immunity (IEI) also known as primary immunodeficiency. We hope that by investigating novel causes of IEI will improve our understanding of how human immunity works, and thus improve clinical outcomes. My research interests include understanding the regulation of thymocyte development, and inflammatory pathways, particularly those associated with interferonopathies.

• Articles

  • 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.
  • 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.
  • Freij BJ, Hanrath AT, Chen R, Hambleton S, Duncan CJA. Life-threatening influenza, hemophagocytic lymphohistiocytosis and probable vaccine strain varicella in a novel case of homozygous STAT2 deficiency. Frontiers in Immunology 2021, 11, 624415.
  • Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain H, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KE, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA. Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2. Science Immunology 2019, 4(42), eaav7501.
  • Swan DJ, Aschenbrenner D, Lamb CA, Chakraborty K, Clark J, Pandey S, Engelhardt KR, Chen R, Cavounidis A, Ding Y, Krasnogor N, Carey CD, Acres M, Needham S, Cant AJ, Arkwright PD, Chandra A, Okkenhaug K, Uhlig HH, Hambleton S. Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ. Haematologica 2019, 104(10), e483-e486.
  • Anzilotti C, Swan DJ, Boisson B, Deobagkar-Lele M, Oliveira C, Chabosseau P, Engelhardt KR, Xu X, Chen R, Alvarez L, Berlinguer-Palmini R, Bull KR, Cawthorne E, Cribbs AP, Crockford TL, Dang TS, Fearn A, Fenech EJ, de Jong SJ, Lagerholm C, Ma CS, Sims D, Van Den Berg B, Xu Y, Cant AJ, Kleiner G, Leahy TR, de laMorena MT, Puck JM, Shapiro RS, van der Burg M, Chapman JR, Christianson JC, Davies B, McGrath JA, Przyborski S, Santibanez Koref M, Tangye SG, Werner A, Rutter GA, Padilla-Parra S, Casanova JL, Cornall RJ, Conley ME, Hambleton S. An essential role for the Zn²⁺ transporter ZIP7 in B cell development. Nature Immunology 2019, 20, 350-361.