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PSMB10, the last immunoproteasome gene missing for PRAAS.
Sarrabay G, Méchin D, Salhi A, Boursier G, Rittore C, Crow Y, Rice G, Tran TA, Cezar R, Duffy D, Bondet V, Boudhane L, Broca C, Kant BP, VanGijn M, Grandemange S, Richard E, Apparailly F, Touitou I. Sarrabay G, et al. J Allergy Clin Immunol. 2020 Mar;145(3):1015-1017.e6. doi: 10.1016/j.jaci.2019.11.024. Epub 2019 Nov 26. J Allergy Clin Immunol. 2020. PMID: 31783057 No abstract available.
DADA2 diagnosed in adulthood versus childhood: A comparative study on 306 patients including a systematic literature review and 12 French cases.
Fayand A, Chasset F, Boutboul D, Queyrel V, Tieulié N, Guichard I, Dupin N, Franck N, Cohen P, Bessis D, Guenno GL, Koné-Paut I, Belot A, Bonhomme A, Ducharme-Bénard S, Grateau G, Sarrabay G, Touitou I, Boursier G, Georgin-Lavialle S. Fayand A, et al. Among authors: sarrabay g. Semin Arthritis Rheum. 2021 Dec;51(6):1170-1179. doi: 10.1016/j.semarthrit.2021.09.001. Epub 2021 Sep 16. Semin Arthritis Rheum. 2021. PMID: 34571400
Clinical and pathological dermatological features of deficiency of adenosine deaminase 2: A multicenter, retrospective, observational study.
Chasset F, Fayand A, Moguelet P, Kouby F, Bonhomme A, Franck N, Goldman-Lévy G, Fraitag S, Barbaud A, Queyrel V, Touitou I, Boursier G, Sarrabay G, Ducharme-Benard S, Dupin N, Francès C, Bessis D, Georgin-Lavialle S; Groupe d'étude des maladies systémiques en dermatologie and Centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire. Chasset F, et al. Among authors: sarrabay g. J Am Acad Dermatol. 2020 Dec;83(6):1794-1798. doi: 10.1016/j.jaad.2020.03.110. Epub 2020 Apr 10. J Am Acad Dermatol. 2020. PMID: 32283244 No abstract available.
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).
Grandemange S, Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C, Frouin E, Seyger M, Girard M, Puechberty J, Costes V, Rodière M, Carbasse A, Jeziorski E, Portales P, Sarrabay G, Mondain M, Jorgensen C, Apparailly F, Hoppenreijs E, Touitou I, Geneviève D. Grandemange S, et al. Among authors: sarrabay g. Ann Rheum Dis. 2017 Jul;76(7):1191-1198. doi: 10.1136/annrheumdis-2016-210021. Epub 2016 Dec 13. Ann Rheum Dis. 2017. PMID: 27965258
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.
Rama M, Duflos C, Melki I, Bessis D, Bonhomme A, Martin H, Doummar D, Valence S, Rodriguez D, Carme E, Genevieve D, Heimdal K, Insalaco A, Franck N, Queyrel-Moranne V, Tieulie N, London J, Uettwiller F, Georgin-Lavialle S, Belot A, Koné-Paut I, Hentgen V, Boursier G, Touitou I, Sarrabay G. Rama M, et al. Among authors: sarrabay g. Eur J Hum Genet. 2018 Jul;26(7):960-971. doi: 10.1038/s41431-018-0130-6. Epub 2018 Apr 23. Eur J Hum Genet. 2018. PMID: 29681619 Free PMC article.
Dominant familial Mediterranean fever.
Sarrabay G, Touitou I. Sarrabay G, et al. Rheumatology (Oxford). 2017 Feb;56(2):173-175. doi: 10.1093/rheumatology/kew203. Epub 2016 May 5. Rheumatology (Oxford). 2017. PMID: 27150192 No abstract available.
47 results