Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
7 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.
JAMA Netw Open. 2023 May 1;6(5):e2315894. doi: 10.1001/jamanetworkopen.2023.15894.
JAMA Netw Open. 2023.
PMID: 37256629
Free article.
Review.
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.
Item in Clipboard
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.
Item in Clipboard
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.
Item in Clipboard
Comparing clinical features between males and females with VEXAS syndrome: data from literature analysis of patient reports.
Echerbault R, Bourguiba R, Georgin-Lavialle S, Lavigne C, Ravaiau C, Lacombe V.
Echerbault R, et al.
Rheumatology (Oxford). 2024 Feb 24:keae123. doi: 10.1093/rheumatology/keae123. Online ahead of print.
Rheumatology (Oxford). 2024.
PMID: 38407378
Item in Clipboard
COVID-19 infection among patients with autoinflammatory diseases: a study on 117 French patients compared with 1545 from the French RMD COVID-19 cohort: COVIMAI - the French cohort study of SARS-CoV-2 infection in patient with systemic autoinflammatory diseases.
Bourguiba R, Kyheng M, Koné-Paut I, Rouzaud D, Avouac J, Devaux M, Abdallah NA, Fautrel B, Ferreira-Maldent N, Langlois V, Ledoult E, Nielly H, Queyrel V, Sellam J, Tieulie N, Chazerain P, Evon P, Labreuche J, Savey L, Hentgen V, Grateau G, Georgin-Lavialle S; FAI2R/SFR/SNFMI/SOFREMIP/CRI/IMIDIATE consortium and contributors.
Bourguiba R, et al.
RMD Open. 2022 May;8(1):e002063. doi: 10.1136/rmdopen-2021-002063.
RMD Open. 2022.
PMID: 35537796
Free PMC article.
Item in Clipboard
Predictive Clinical and Biological Criteria for Gene Panel Positivity in Suspected Inherited Autoinflammatory Diseases: Insights from a Case-Control Study.
Heiser L, Broly M, Rittore C, Touitou I, Georgin-Lavialle S, Boursier G.
Heiser L, et al.
Genes (Basel). 2023 Oct 14;14(10):1939. doi: 10.3390/genes14101939.
Genes (Basel). 2023.
PMID: 37895288
Free PMC article.
Item in Clipboard
Cite
Cite