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Page 1
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. Chirita D, et al. Cell Death Dis. 2023 Mar 25;14(3):213. doi: 10.1038/s41419-023-05745-9. Cell Death Dis. 2023. PMID: 36966139 Free PMC article.
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Abou Tayoun A, Aiuti A, Alavi Darazam I, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Metin Akcan O, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, v… See abstract for full author list ➔ Matuozzo D, et al. Genome Med. 2023 Apr 5;15(1):22. doi: 10.1186/s13073-023-01173-8. Genome Med. 2023. PMID: 37020259 Free PMC article.
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Tayoun AA, Aiuti A, Darazam IA, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, Zein LE, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Akcan OM, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, von Bernuth H, Le… See abstract for full author list ➔ Matuozzo D, et al. Genome Med. 2024 Jan 6;16(1):6. doi: 10.1186/s13073-023-01278-0. Genome Med. 2024. PMID: 38184654 Free PMC article. No abstract available.
Diagnosis traps for patients with acquired NLRP3 mutation.
Cescato M, Cuisset L, Le Corre L, Rodero MP, Georgin-Lavialle S; F-CAPS study group. Cescato M, et al. Eur J Intern Med. 2024 Jul;125:129-131. doi: 10.1016/j.ejim.2024.01.028. Epub 2024 Mar 20. Eur J Intern Med. 2024. PMID: 38514289 Free article. No abstract available.
Unravelling the clinical heterogeneity of undefined recurrent fever over time in the European registries on Autoinflammation.
Vyzhga Y, Wittkowski H, Hentgen V, Georgin-Lavialle S, Theodoropoulou A, Fuehner S, Jesenak M, Frenkel J, Papadopoulou-Alataki E, Anton J, Olivieri AN, Brunner J, Sanchez J, Koné-Paut I, Fingerhutova S, Pillet P, Meinzer U, Khubchandani R, Jansson A, Haas JP, Berendes R, Kallinich T, Horneff G, Lilienthal E, Papa R, Foell D, Lainka E, Caorsi R, Gattorno M, Hofer M; AID-Net JIRcohortEurofever/PRINTO. Vyzhga Y, et al. Pediatr Rheumatol Online J. 2024 May 17;22(1):55. doi: 10.1186/s12969-024-00987-z. Pediatr Rheumatol Online J. 2024. PMID: 38760816 Free PMC article.
288 results