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Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience.
Rowczenio DM, Gomes SM, Aróstegui JI, Mensa-Vilaro A, Omoyinmi E, Trojer H, Baginska A, Baroja-Mazo A, Pelegrin P, Savic S, Lane T, Williams R, Brogan P, Lachmann HJ, Hawkins PN. Rowczenio DM, et al. Among authors: savic s. Front Immunol. 2017 Oct 31;8:1410. doi: 10.3389/fimmu.2017.01410. eCollection 2017. Front Immunol. 2017. PMID: 29163488 Free PMC article.
Involvement of X-box binding protein 1 and reactive oxygen species pathways in the pathogenesis of tumour necrosis factor receptor-associated periodic syndrome.
Dickie LJ, Aziz AM, Savic S, Lucherini OM, Cantarini L, Geiler J, Wong CH, Coughlan R, Lane T, Lachmann HJ, Hawkins PN, Robinson PA, Emery P, McGonagle D, McDermott MF. Dickie LJ, et al. Among authors: savic s. Ann Rheum Dis. 2012 Dec;71(12):2035-43. doi: 10.1136/annrheumdis-2011-201197. Epub 2012 Jun 7. Ann Rheum Dis. 2012. PMID: 22679299
Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome.
Rowczenio DM, Pathak S, Arostegui JI, Mensa-Vilaro A, Omoyinmi E, Brogan P, Lipsker D, Scambler T, Owen R, Trojer H, Baginska A, Gillmore JD, Wechalekar AD, Lane T, Williams R, Youngstein T, Hawkins PN, Savic S, Lachmann HJ. Rowczenio DM, et al. Among authors: savic s. Blood. 2018 Mar 1;131(9):974-981. doi: 10.1182/blood-2017-10-810366. Epub 2017 Dec 28. Blood. 2018. PMID: 29284595 Free PMC article. Clinical Trial.
Inositol-Requiring Enzyme 1-Mediated Downregulation of MicroRNA (miR)-146a and miR-155 in Primary Dermal Fibroblasts across Three TNFRSF1A Mutations Results in Hyperresponsiveness to Lipopolysaccharide.
Harrison SR, Scambler T, Oubussad L, Wong C, Wittmann M, McDermott MF, Savic S. Harrison SR, et al. Among authors: savic s. Front Immunol. 2018 Feb 6;9:173. doi: 10.3389/fimmu.2018.00173. eCollection 2018. Front Immunol. 2018. PMID: 29467762 Free PMC article.
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.
Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, Baris S, Barzaghi F, Baxendale H, Buckland M, Burns SO, Cancrini C, Cant A, Cathébras P, Cavazzana M, Chandra A, Conti F, Coulter T, Devlin LA, Edgar JDM, Faust S, Fischer A, Garcia-Prat M, Hammarström L, Heeg M, Jolles S, Karakoc-Aydiner E, Kindle G, Kiykim A, Kumararatne D, Grimbacher B, Longhurst H, Mahlaoui N, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neven B, Nieters A, Olbrich P, Ozen A, Pachlopnik Schmid J, Picard C, Prader S, Rae W, Reichenbach J, Rusch S, Savic S, Scarselli A, Scheible R, Sediva A, Sharapova SO, Shcherbina A, Slatter M, Soler-Palacin P, Stanislas A, Suarez F, Tucci F, Uhlmann A, van Montfrans J, Warnatz K, Williams AP, Wood P, Kracker S, Condliffe AM, Ehl S. Maccari ME, et al. Among authors: savic s. Front Immunol. 2018 Mar 16;9:543. doi: 10.3389/fimmu.2018.00543. eCollection 2018. Front Immunol. 2018. PMID: 29599784 Free PMC article.
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, Balanda N, Ross DL, Ospina Cardona D, Wu Z, Patel B, Manthiram K, Groarke EM, Gutierrez-Rodrigues F, Hoffmann P, Rosenzweig S, Nakabo S, Dillon LW, Hourigan CS, Tsai WL, Gupta S, Carmona-Rivera C, Asmar AJ, Xu L, Oda H, Goodspeed W, Barron KS, Nehrebecky M, Jones A, Laird RS, Deuitch N, Rowczenio D, Rominger E, Wells KV, Lee CR, Wang W, Trick M, Mullikin J, Wigerblad G, Brooks S, Dell'Orso S, Deng Z, Chae JJ, Dulau-Florea A, Malicdan MCV, Novacic D, Colbert RA, Kaplan MJ, Gadina M, Savic S, Lachmann HJ, Abu-Asab M, Solomon BD, Retterer K, Gahl WA, Burgess SM, Aksentijevich I, Young NS, Calvo KR, Werner A, Kastner DL, Grayson PC. Beck DB, et al. Among authors: savic s. N Engl J Med. 2020 Dec 31;383(27):2628-2638. doi: 10.1056/NEJMoa2026834. Epub 2020 Oct 27. N Engl J Med. 2020. PMID: 33108101 Free PMC article.
601 results