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Diagnostic and therapeutic algorithms for monogenic autoinflammatory diseases presenting with recurrent fevers among adults.
Delplanque M, Fayand A, Boursier G, Grateau G, Savey L, Georgin-Lavialle S.
Rheumatology (Oxford), 2023 Aug 1. 62(8):2665-2672. doi: 10.1093/rheumatology/keac712.
PubMed
H syndrome mimicking Erdheim Chester disease: new entity and therapeutic perspectives.
Lequain H, Gerfaud-Valentin M, Emile JF, Gangloff YG, Boursier G, Deligny C, Le Guenno G, Tantot J, Valantin J, Savey L, Bachmeyer C, Jamilloux Y, Schaeffer L, Leblanc P, Sève P.
Haematologica, 2023 Aug 1. 108(8):2255-2260. doi: 10.3324/haematol.2022.282040. Epub 2023 Aug 1.
PubMed
[Monogenic auto-inflammatory diseases associated with actinopathies: A review of the literature].
Mertz P, Hentgen V, Boursier G, Delon J, Georgin-Lavialle S.
Rev Med Interne, 2023 Aug 16. pii: S0248-8663(23)00668-9. doi: 10.1016/j.revmed.2023.06.005. Epub 2023 Aug 16.
PubMed
TNFRSF1A-pR92Q variant identifies a subset of patients more similar to systemic undifferentiated recurrent fever than TNF receptor-associated periodic syndrome.
Gerritsma AM, Sutera D, Cantarini L, Cattalini M, Lachmann HJ, Minden K, Jansson AF, Touitou I, Bustaffa M, Antón J, Insalaco A, Moreno E, Sanchez-Manubens J, Ruperto N, Frenkel J, Gattorno M, for Eurofever/Eurotraps projects and Paediatric Rheumatology International Trials Organisation (PRINTO).
Clin Exp Rheumatol, 2023 Jul 11. doi: 10.55563/clinexprheumatol/am4phc. Epub 2023 Jul 11.
PubMed
Pathogenic variants in the NLRP3 LRR domain at position 861 are responsible for a boost-dependent atypical CAPS phenotype.
Fayand A, Cescato M, Le Corre L, Terré A, Wacheux M, Zhu YYJ, Melet A, Moreau TRJ, Bodaghi B, Bonnet F, Bronnimann D, Cuisset L, Faria R, Grateau G, Pillet P, Mulders-Manders CM, Neven B, Quartier P, Richer O, Savey L, Truchetet ME, Py BF, Boursier G, Herbeuval JP, Georgin-Lavialle S, Rodero MP.
J Allergy Clin Immunol, 2023 Jul 26. pii: S0091-6749(23)00926-0. doi: 10.1016/j.jaci.2023.07.006. Epub 2023 Jul 26.
PubMed
In-house diagnostic devices under the EU IVDR and unwanted side-effects of intentional transparency.
Vanstapel FJLA, Boursier G, Cobbaert CM.
Clin Chem Lab Med, 2023 Jul 27. doi: 10.1515/cclm-2023-0750. Epub 2023 Jul 27.
PubMed
Lenalidomide for treatment of refractory aphthosis and neutrophilic pustulosis in familial pyrin-associated autoinflammation with neutrophilic dermatosis.
Poujade L, Sarrabay G, Cezar R, Samaran Q, Corbeau P, Bessis D, Tran TA.
Rheumatology (Oxford), 2023 Jun 14. pii: kead294. doi: 10.1093/rheumatology/kead294. Epub 2023 Jun 14.
PubMed
In reply to: Limitations in using the EFLM WG-A/ISO approach for assessment of reagent lot variability.
Thelen MHM, van Schrojenstein Lantman M, Boursier G, Vanstapel F, Panteghini M.
Clin Chem Lab Med, 2023 Jun 1. doi: 10.1515/cclm-2023-0516. Epub 2023 Jun 1.
PubMed
MicroRNAs in inflammasomopathies.
Saad N, Duroux-Richard I, Touitou I, Jeziorski E, Apparailly F.
Immunol Lett, 2023 Apr-May. doi: 10.1016/j.imlet.2023.04.001. Epub 2023 Apr 5.
PubMed
Clinical and pathological features of cutaneous manifestations in VEXAS syndrome: A multicenter retrospective study of 59 cases.
Zakine È, Papageorgiou L, Bourguiba R, Mekinian A, Terrier B, Kosmider O, Hirsch P, Jachiet M, Audia S, Ardois S, Adélaïde L, Bigot A, Duriez P, Emile JF, Lazaro E, Fayard D, Galland J, Hié M, Humbert S, Jean A, Kostine M, Lacombe V, Le Guenno G, Lobbes H, Magy-Bertrand N, Marianetti-Guingel P, Mathian A, Outh R, Saillard C, Samson M, Vial G, Bouaziz JD, Moguelet P, Chasset F, National French VEXAS Study Group (NFVS).
J Am Acad Dermatol, 2023 Apr. 88(4):917-920. doi: 10.1016/j.jaad.2022.10.052. Epub 2022 Nov 5.
PubMed
Mutations in the B30.2 and the central helical scaffold domains of pyrin differentially affect inflammasome activation.
Chirita D, Bronnec P, Magnotti F, Dalmon S, Martin A, Popoff M, Gerfaud-Valentin M, Sève P, Belot A, Contis A, Duquesne A, Nocturne G, Lemelle I, Georgin-Lavialle S, Boursier G, Touitou I, Jamilloux Y, Henry T.
Cell Death Dis, 2023 Mar 25. 14(3):213. doi: 10.1038/s41419-023-05745-9. Epub 2023 Mar 25.
PubMed
French practical guidelines for the diagnosis and management of AA amyloidosis.
Georgin-Lavialle S, Savey L, Buob D, Bastard JP, Fellahi S, Karras A, Boffa JJ, Grateau G, Collaborators, Audard V, Bridoux F, Damade R, Deshayes S, Giurgea I, Granel B, Hachulla E, Hot A, Jaccard A, Knebelmann B, Marciano S, Pelcot F, Sarrabay G, Boursier G, Sellam J, Terre A, Bourguiba R.
Rev Med Interne, 2023 Feb. 44(2):62-71. doi: 10.1016/j.revmed.2022.12.004. Epub 2023 Jan 23.
PubMed
Systemic inflammatory trunk recurrent acute macular eruption (SITRAME): A new auto-inflammatory syndrome in adult?
Soria A, Amsler E, Garel B, Moguelet P, Tieulié N, Cordoliani F, Guichard I, Mahé A, Grateau G, Boursier G, Georgin-Lavialle S.
J Eur Acad Dermatol Venereol, 2023 Apr. 37(4):e538-e542. doi: 10.1111/jdv.18771. Epub 2022 Nov 30.
PubMed
Germline Mosaicism in STAT3: A Pitfall for Genetic Diagnosis, Counseling, and Therapy of Hyper-IgE Syndrome.
Sabbagh Q, Cohen JD, Mortreux J, Raymond L, Geromel V, Boursier G, Jeziorski E, Le Moing V, Bessis D, Geneviève D.
Dermatitis, 2023 Jan 19. doi: 10.1089/derm.2022.0057. Epub 2023 Jan 19.
PubMed
ISO 15189 is a sufficient instrument to guarantee high-quality manufacture of laboratory developed tests for in-house-use conform requirements of the European In-Vitro-Diagnostics Regulation.
Vanstapel FJLA, Orth M, Streichert T, Capoluongo ED, Oosterhuis WP, Çubukçu HC, Bernabeu-Andreu FA, Thelen M, Jacobs LHJ, Linko S, Bhattoa HP, Bossuyt PMM, Meško Brguljan P, Boursier G, Cobbaert CM, Neumaier M.
Clin Chem Lab Med, 2023 Mar 28. 61(4):608-626. doi: 10.1515/cclm-2023-0045. Epub 2023 Jan 31.
PubMed