Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations N Jeremiah, B Neven, M Gentili, I Callebaut, S Maschalidi, ... The Journal of clinical investigation 124 (12), 5516-5520, 2014 | 498 | 2014 |
Detection of interferon alpha protein reveals differential levels and cellular sources in disease MP Rodero, J Decalf, V Bondet, D Hunt, GI Rice, S Werneke, ... Journal of experimental medicine 214 (5), 1547-1555, 2017 | 343 | 2017 |
Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1 P Bastard, E Orlova, L Sozaeva, R Lévy, A James, MM Schmitt, S Ochoa, ... Journal of Experimental Medicine 218 (7), 2021 | 234 | 2021 |
Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children ML Frémond, MP Rodero, N Jeremiah, A Belot, E Jeziorski, D Duffy, ... Journal of Allergy and Clinical Immunology 138 (6), 1752-1755, 2016 | 230 | 2016 |
Type I interferon-mediated autoinflammation due to DNase II deficiency MP Rodero, A Tesser, E Bartok, GI Rice, E Della Mina, M Depp, B Beitz, ... Nature communications 8 (1), 2176, 2017 | 204 | 2017 |
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling I Melki, Y Rose, C Uggenti, L Van Eyck, ML Frémond, N Kitabayashi, ... Journal of Allergy and Clinical Immunology 140 (2), 543-552. e5, 2017 | 182 | 2017 |
Assessment of type I interferon signaling in pediatric inflammatory disease GI Rice, I Melki, ML Frémond, TA Briggs, MP Rodero, N Kitabayashi, ... Journal of clinical immunology 37, 123-132, 2017 | 181 | 2017 |
Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling A Lepelley, MJ Martin-Niclós, M Le Bihan, JA Marsh, C Uggenti, GI Rice, ... Journal of Experimental Medicine 217 (11), e20200600, 2020 | 153 | 2020 |
Next-generation sequencing for diagnosis and tailored therapy: a case report of astrovirus-associated progressive encephalitis ML Frémond, P Pérot, E Muth, G Cros, M Dumarest, N Mahlaoui, ... Journal of the Pediatric Infectious Diseases Society 4 (3), e53-e57, 2015 | 135 | 2015 |
Inherited CARD9 Deficiency in 2 Unrelated Patients With Invasive Exophiala Infection F Lanternier, E Barbati, U Meinzer, L Liu, V Pedergnana, M Migaud, ... The Journal of Infectious Diseases 211 (8), 1241-1250, 2015 | 134 | 2015 |
Reverse-transcriptase inhibitors in the Aicardi–Goutières syndrome GI Rice, C Meyzer, N Bouazza, M Hully, N Boddaert, M Semeraro, ... New England Journal of Medicine 379 (23), 2275-2277, 2018 | 127 | 2018 |
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing C Uggenti, A Lepelley, M Depp, AP Badrock, MP Rodero, MT El-Daher, ... Nature Genetics 52 (12), 1364-1372, 2020 | 120 | 2020 |
Overview of STING-associated vasculopathy with onset in infancy (SAVI) among 21 patients ML Frémond, A Hadchouel, L Berteloot, I Melki, V Bresson, L Barnabei, ... The Journal of Allergy and Clinical Immunology: In Practice 9 (2), 803-818. e11, 2021 | 119 | 2021 |
Haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide for primary immunodeficiencies and inherited disorders in children B Neven, JS Diana, M Castelle, A Magnani, J Rosain, F Touzot, B Moreira, ... Biology of Blood and Marrow Transplantation 25 (7), 1363-1373, 2019 | 79 | 2019 |
A child with severe juvenile dermatomyositis treated with ruxolitinib FA Aeschlimann, ML Frémond, D Duffy, GI Rice, JL Charuel, V Bondet, ... Brain 141 (11), e80-e80, 2018 | 75 | 2018 |
Anti–TNF-α therapy may cause neonatal neutropenia T Guiddir, ML Frémond, TB Triki, S Candon, L Croisille, T Leblanc, ... Pediatrics 134 (4), e1189-e1193, 2014 | 69 | 2014 |
JAK inhibitors are effective in a subset of patients with juvenile dermatomyositis: a monocentric retrospective study T Le Voyer, C Gitiaux, FJ Authier, C Bodemer, I Melki, P Quartier, ... Rheumatology 60 (12), 5801-5808, 2021 | 65 | 2021 |
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry C Desplantes, ML Fremond, B Beaupain, JL Harousseau, A Buzyn, ... Orphanet Journal of Rare Diseases 9, 1-15, 2014 | 62 | 2014 |
STING-mediated lung inflammation and beyond ML Frémond, YJ Crow Journal of clinical immunology 41 (3), 501-514, 2021 | 57 | 2021 |
Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency C Briand, ML Frémond, D Bessis, A Carbasse, GI Rice, V Bondet, D Duffy, ... Annals of the rheumatic diseases 78 (3), 431-433, 2019 | 54 | 2019 |