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Page 1
Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic.
Duncan CJA, Skouboe MK, Howarth S, Hollensen AK, Chen R, Børresen ML, Thompson BJ, Stremenova Spegarova J, Hatton CF, Stæger FF, Andersen MK, Whittaker J, Paludan SR, Jørgensen SE, Thomsen MK, Mikkelsen JG, Heilmann C, Buhas D, Øbro NF, Bay JT, Marquart HV, de la Morena MT, Klejka JA, Hirschfeld M, Borgwardt L, Forss I, Masmas T, Poulsen A, Noya F, Rouleau G, Hansen T, Zhou S, Albrechtsen A, Alizadehfar R, Allenspach EJ, Hambleton S, Mogensen TH. Duncan CJA, et al. Among authors: stremenova spegarova j. J Exp Med. 2022 Jun 6;219(6):e20212427. doi: 10.1084/jem.20212427. Epub 2022 Apr 20. J Exp Med. 2022. PMID: 35442417 Free PMC article.
Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency.
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. Gothe F, et al. Among authors: stremenova spegarova j. J Allergy Clin Immunol. 2022 Oct;150(4):955-964.e16. doi: 10.1016/j.jaci.2022.01.026. Epub 2022 Feb 17. J Allergy Clin Immunol. 2022. PMID: 35182547 Free article.
Germline TET2 loss of function causes childhood immunodeficiency and lymphoma.
Stremenova Spegarova J, Lawless D, Mohamad SMB, Engelhardt KR, Doody G, Shrimpton J, Rensing-Ehl A, Ehl S, Rieux-Laucat F, Cargo C, Griffin H, Mikulasova A, Acres M, Morgan NV, Poulter JA, Sheridan EG, Chetcuti P, O'Riordan S, Anwar R, Carter CR, Przyborski S, Windebank K, Cant AJ, Lako M, Bacon CM, Savic S, Hambleton S. Stremenova Spegarova J, et al. Blood. 2020 Aug 27;136(9):1055-1066. doi: 10.1182/blood.2020005844. Blood. 2020. PMID: 32518946 Free article.
A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant.
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. Stremenova Spegarova J, et al. J Clin Invest. 2024 May 16;134(13):e179193. doi: 10.1172/JCI179193. J Clin Invest. 2024. PMID: 38753439 Free PMC article. No abstract available.