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Page 1
[Lupus under UNC93B1 surveillance].
David C, Fouchet J, Manoury B, Frémond ML, Lepelley A. David C, et al. Among authors: fremond ml. Med Sci (Paris). 2024 Nov;40(11):825-828. doi: 10.1051/medsci/2024146. Epub 2024 Dec 10. Med Sci (Paris). 2024. PMID: 39656979 French. No abstract available.
Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation.
Triaille C, Rao NM, Rice GI, Seabra L, Sutherland FJH, Bondet V, Duffy D, Gennery AR, Fournier B, Bader-Meunier B, Troedson C, Cleary G, Buso H, Dalby-Payne J, Ranade P, Jansen K, De Somer L, Frémond ML, Chavan PP, Wong M, Dale RC, Wouters C, Quartier P, Khubchandani R, Crow YJ. Triaille C, et al. Among authors: fremond ml. J Clin Immunol. 2024 Aug 28;44(8):185. doi: 10.1007/s10875-024-01788-5. J Clin Immunol. 2024. PMID: 39196411 Free PMC article.
Interferonopathies: From concept to clinical practice.
Mendonça LO, Frémond ML. Mendonça LO, et al. Among authors: fremond ml. Best Pract Res Clin Rheumatol. 2024 Sep;38(3):101975. doi: 10.1016/j.berh.2024.101975. Epub 2024 Aug 8. Best Pract Res Clin Rheumatol. 2024. PMID: 39122631 Free article. Review.
Inheritance of STING mosaicism in two half-siblings.
de Becdelièvre A, Eveillard LA, Wolska-Kuśnierz B, Frémond ML; SAVI study group. de Becdelièvre A, et al. Among authors: fremond ml. J Clin Immunol. 2024 Jul 30;44(7):168. doi: 10.1007/s10875-024-01768-9. J Clin Immunol. 2024. PMID: 39078464 Free PMC article. No abstract available.
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.
David C, Arango-Franco CA, Badonyi M, Fouchet J, Rice GI, Didry-Barca B, Maisonneuve L, Seabra L, Kechiche R, Masson C, Cobat A, Abel L, Talouarn E, Béziat V, Deswarte C, Livingstone K, Paul C, Malik G, Ross A, Adam J, Walsh J, Kumar S, Bonnet D, Bodemer C, Bader-Meunier B, Marsh JA, Casanova JL, Crow YJ, Manoury B, Frémond ML, Bohlen J, Lepelley A. David C, et al. Among authors: fremond ml. J Exp Med. 2024 Aug 5;221(8):e20232066. doi: 10.1084/jem.20232066. Epub 2024 Jun 13. J Exp Med. 2024. PMID: 38869500 Free PMC article.
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.
72 results