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Autoinflammatory
diseases

Research project
The team
Publications

Selected publications

  1. El Khouri, E, Diab, F, Louvrier, C, Assrawi, E, Daskalopoulou, A, Nguyen, A et al.. A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation. Elife. 2023;12 :. doi: 10.7554/eLife.81280. PubMed PMID:37342083 PubMed Central PMC10284599.
  2. Louvrier, C, El Khouri, E, Grall Lerosey, M, Quartier, P, Guerrot, AM, Bader Meunier, B et al.. De Novo Gain-Of-Function Variations in LYN Associated With an Early-Onset Systemic Autoinflammatory Disorder. Arthritis Rheumatol. 2023;75 (3):468-474. doi: 10.1002/art.42354. PubMed PMID:36122175 .
  3. Louvrier, C, Awad, F, Cosnes, A, El Khouri, E, Assrawi, E, Daskalopoulou, A et al.. RNF213-associated urticarial lesions with hypercytokinemia. J Allergy Clin Immunol. 2022;150 (6):1545-1555. doi: 10.1016/j.jaci.2022.06.016. PubMed PMID:35780935 .
  4. Assrawi, E, Louvrier, C, El Khouri, E, Delaleu, J, Copin, B, Dastot-Le Moal, F et al.. Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome. Rheumatology (Oxford). 2022;62 (1):473-479. doi: 10.1093/rheumatology/keac274. PubMed PMID:35640127 .
  5. Louvrier, C, Assrawi, E, El Khouri, E, Melki, I, Copin, B, Bourrat, E et al.. NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations. J Allergy Clin Immunol. 2020;145 (4):1254-1261. doi: 10.1016/j.jaci.2019.11.035. PubMed PMID:31816408 .
  6. Awad, F, Assrawi, E, Jumeau, C, Odent, S, Despert, V, Cam, G et al.. The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event. ACR Open Rheumatol. 2019;1 (4):267-276. doi: 10.1002/acr2.1039. PubMed PMID:31777803 PubMed Central PMC6857991.
  7. Assrawi, E, Louvrier, C, Lepelletier, C, Georgin-Lavialle, S, Bouaziz, JD, Awad, F et al.. Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria. J Invest Dermatol. 2020;140 (4):791-798.e2. doi: 10.1016/j.jid.2019.06.153. PubMed PMID:31513803 .
  8. Jumeau, C, Awad, F, Assrawi, E, Cobret, L, Duquesnoy, P, Giurgea, I et al.. Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages. PLoS One. 2019;14 (5):e0217005. doi: 10.1371/journal.pone.0217005. PubMed PMID:31100086 PubMed Central PMC6524798.
  9. Awad, F, Assrawi, E, Jumeau, C, Georgin-Lavialle, S, Cobret, L, Duquesnoy, P et al.. Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation. PLoS One. 2017;12 (4):e0175336. doi: 10.1371/journal.pone.0175336. PubMed PMID:28403163 PubMed Central PMC5389804.

 

You can find more about our scientific publications on https://www.hal.inserm.fr/U933.