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Page 1
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
David C, Badonyi M, Kechiche R, Insalaco A, Zecca M, De Benedetti F, Orcesi S, Chiapparini L, Comoli P, Federici S, Gattorno M, Ginevrino M, Giorgio E, Matteo V, Moran-Alvarez P, Politano D, Prencipe G, Sirchia F, Volpi S, Masson C, Rice GI, Frémond ML, Lepelley A, Marsh JA, Crow YJ. David C, et al. Among authors: fremond ml. J Clin Immunol. 2024 Feb 7;44(2):60. doi: 10.1007/s10875-024-01660-6. J Clin Immunol. 2024. PMID: 38324161 Free PMC article.
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.
Delafontaine S, Iannuzzo A, Bigley TM, Mylemans B, Rana R, Baatsen P, Poli MC, Rymen D, Jansen K, Mekahli D, Casteels I, Cassiman C, Demaerel P, Lepelley A, Frémond ML, Schrijvers R, Bossuyt X, Vints K, Huybrechts W, Tacine R, Willekens K, Corveleyn A, Boeckx B, Baggio M, Ehlers L, Munck S, Lambrechts D, Voet A, Moens L, Bucciol G, Cooper MA, Davis CM, Delon J, Meyts I. Delafontaine S, et al. Among authors: fremond ml. J Clin Invest. 2024 Jan 4;134(4):e163604. doi: 10.1172/JCI163604. J Clin Invest. 2024. PMID: 38175705 Free PMC article.
Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response.
de Cevins C, Delage L, Batignes M, Riller Q, Luka M, Remaury A, Sorin B, Fali T, Masson C, Hoareau B, Meunier C, Parisot M, Zarhrate M, Pérot BP, García-Paredes V, Carbone F, Galliot L, Nal B, Pierre P, Canard L, Boussard C, Crickx E, Guillemot JC, Bader-Meunier B, Bélot A, Quartier P, Frémond ML, Neven B, Boldina G, Augé F, Alain F, Didier M, Rieux-Laucat F, Ménager MM. de Cevins C, et al. Among authors: fremond ml. Cell Rep Med. 2023 Dec 19;4(12):101333. doi: 10.1016/j.xcrm.2023.101333. Cell Rep Med. 2023. PMID: 38118407 Free PMC article.
[Lung involvement in autoinflammatory diseases].
Frémond ML, Berteloot L, Hadchouel A. Frémond ML, et al. Rev Mal Respir. 2024 Jan;41(1):18-28. doi: 10.1016/j.rmr.2023.10.009. Epub 2023 Nov 30. Rev Mal Respir. 2024. PMID: 38040588 Review. French.
Lung Transplantation under a Janus Kinase Inhibitor in Three Patients with SAVI Syndrome.
Berrada KR, Belot A, Neven B, Ohlmann C, Tronc F, Rice G, Thouvenin G, Dubus JC, Mazenq J, Frémond ML, Stremler N, Soummer-Feuillet S, Cottin V, Reix P. Berrada KR, et al. Among authors: fremond ml. J Clin Immunol. 2023 Nov;43(8):2156-2164. doi: 10.1007/s10875-023-01595-4. Epub 2023 Oct 10. J Clin Immunol. 2023. PMID: 37814086
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.
Frémond ML, Hully M, Fournier B, Barrois R, Lévy R, Aubart M, Castelle M, Chabalier D, Gins C, Sarda E, Al Adba B, Couderc S, D' Almeida C, Berat CM, Durrleman C, Espil C, Lambert L, Méni C, Périvier M, Pillet P, Polivka L, Schiff M, Todosi C, Uettwiller F, Lepelley A, Rice GI, Seabra L, Sanquer S, Hulin A, Pressiat C, Goldwirt L, Bondet V, Duffy D, Moshous D, Bader-Meunier B, Bodemer C, Robin-Renaldo F, Boddaert N, Blanche S, Desguerre I, Crow YJ, Neven B. Frémond ML, et al. J Clin Immunol. 2023 Aug;43(6):1436-1447. doi: 10.1007/s10875-023-01500-z. Epub 2023 May 12. J Clin Immunol. 2023. PMID: 37171742 Free PMC article.
Association between type I interferon pathway activation and clinical outcomes in rheumatic and musculoskeletal diseases: a systematic literature review informing EULAR points to consider.
Rodríguez-Carrio J, Burska A, Conaghan PG, Dik WA, Biesen R, Eloranta ML, Cavalli G, Visser M, Boumpas DT, Bertsias G, Wahren-Herlenius M, Rehwinkel J, Frémond ML, Crow MK, Ronnblom L, Vital E, Versnel M. Rodríguez-Carrio J, et al. Among authors: fremond ml. RMD Open. 2023 Mar;9(1):e002864. doi: 10.1136/rmdopen-2022-002864. RMD Open. 2023. PMID: 36882218 Free PMC article.
Type I interferon pathway assays in studies of rheumatic and musculoskeletal diseases: a systematic literature review informing EULAR points to consider.
Burska A, Rodríguez-Carrio J, Biesen R, Dik WA, Eloranta ML, Cavalli G, Visser M, Boumpas DT, Bertsias G, Wahren-Herlenius M, Rehwinkel J, Frémond ML, Crow MK, Ronnblom L, Conaghan PG, Versnel M, Vital E. Burska A, et al. Among authors: fremond ml. RMD Open. 2023 Mar;9(1):e002876. doi: 10.1136/rmdopen-2022-002876. RMD Open. 2023. PMID: 36863752 Free PMC article.
66 results