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Fièvre Méditerranéenne Familiale : nouveaux phénotypes et mécanismes génétiques
Martin Broly, Guilaine Boursier, Isabelle Touitou
BULL ACAD NATL MED - 2025

 

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New Diseases Linked to MEFV Variants or Pyrinopathies.
Mertz P, Boursier G, Hentgen V, Georgin-Lavialle S.
J Allergy Clin Immunol Pract, 2025 Mar. 13(3):522-532. doi: 10.1016/j.jaip.2024.12.022. Epub 2024 Dec 24.
PubMed

Interleukin-18 and interleukin-1β blockade to control inflammation in PAMI syndrome before and after HSCT.
Fournier B, Eveillard LA, Escudier A, Boursier G, Welfringer A, Neven B, Bader-Meunier B.
Ann Rheum Dis, 2025 Mar. 84(3):e1-e3. doi: 10.1016/j.ard.2024.12.002. Epub 2025 Feb 11.
PubMed

Digital clubbing, an unfamiliar feature of cryopyrin-associated periodic syndrome: A cohort study.
Monfort JB, Zhu YYJ, El Moussaoui M, Grateau G, Soria A, French CAPS Study Group, Savey L, Georgin-Lavialle S.
J Am Acad Dermatol, 2025 Mar 25. pii: S0190-9622(25)00526-2. doi: 10.1016/j.jaad.2025.03.057. Epub 2025 Mar 25.
PubMed

The needed daily dose of colchicine in patients with Familial Mediterranean Fever may be higher in women: a study on behalf of the JIR cohort.
Di Cola I, Bartoli A, Savey L, Bensalek F, Delplanque M, Bourguiba R, Aknouche Z, Kone-Paut I, Rossi-Semerano L, Melki I, Bader-Meunier B, Neven B, Quartier P, Boursier G, Cuisset L, Grateau G, Hentgen V, Georgin-Lavialle S.
Arthritis Res Ther, 2025 Mar 19. 27(1):59. doi: 10.1186/s13075-024-03440-4. Epub 2025 Mar 19.
PubMed

Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants.
Feng S, Wierzbowski MC, Hrovat-Schaale K, Dumortier A, Zhang Y, Zyulina M, Baker PJ, Reygaerts T, Steiner A, De Nardo D, Narayanan DL, Milhavet F, Pinzon-Charry A, Arostegui JI, Khubchandani RP, Geyer M, Boursier G, Masters SL.
Nat Immunol, 2025 Mar. 26(3):511-523. doi: 10.1038/s41590-025-02088-9. Epub 2025 Feb 10.
PubMed

How (Ultra-)Rare Gene Variants Improve Our Understanding of More Common Autoimmune and Inflammatory Diseases.
Belot A, Tusseau M, Cognard J, Georgin-Lavialle S, Boursier G, Hedrich CM.
ACR Open Rheumatol, 2025 Feb. 7(2):e70003. doi: 10.1002/acr2.70003.
PubMed

EN ISO 15189 revision: EFLM Committee Accreditation and ISO/CEN standards (C: A/ISO) analysis and general remarks on the changes.
Linko S, Boursier G, Bernabeu-Andreu FA, Dzneladze N, Vanstapel F, Brguljan PM, Tosheska-Trajkovska K, Mehay H, Panteghini M, Brugnoni D, Milinkovic N, Lohmander M, Šprongl L, Çubukçu HC, Thelen M.
Clin Chem Lab Med, 2025 Jan 6. doi: 10.1515/cclm-2024-1451. Epub 2025 Jan 6.
PubMed