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A sensitive assay for measuring whole-blood responses to type I IFNs.
Gervais A, Le Floc'h C, Le Voyer T, Bizien L, Bohlen J, Celmeli F, Al Qureshah F, Masson C, Rosain J, Chbihi M, Lévy R, Castagnoli R, Rothenbuhler A, Jouanguy E, Zhang Q, Zhang SY, Béziat V, Bustamante J, Puel A, Bastard P, Casanova JL. Gervais A, et al. Among authors: rothenbuhler a. Proc Natl Acad Sci U S A. 2024 Oct;121(40):e2402983121. doi: 10.1073/pnas.2402983121. Epub 2024 Sep 23. Proc Natl Acad Sci U S A. 2024. PMID: 39312669 Free PMC article.
Prevalence of hearing loss in pseudohypoparathyroidism.
Djian C, Berkenou J, Rothenbuhler A, Botton J, Linglart A, Nevoux J. Djian C, et al. Among authors: rothenbuhler a. Orphanet J Rare Dis. 2024 Sep 12;19(1):339. doi: 10.1186/s13023-024-03299-3. Orphanet J Rare Dis. 2024. PMID: 39267114 Free PMC article.
Metabolically healthy obesity in adults with X-linked hypophosphatemia.
Lecoq AL, Schilbach K, Rocher L, Trabado S, Briot K, Herrou J, Forbes A, Garnier A, Piketty M, Bidlingmaier M, Rothenbuhler A, Linglart A, Carette C, Chaumet-Riffaud P, Kamenický P. Lecoq AL, et al. Among authors: rothenbuhler a. Eur J Endocrinol. 2024 Aug 5;191(2):156-165. doi: 10.1093/ejendo/lvae089. Eur J Endocrinol. 2024. PMID: 39120742
High prevalence of hypercalcitoninemia in a large cohort of adult and paediatric patients with PTH resistance syndromes.
Cremaschi A, Del Sindaco G, Pagnano A, Dolci A, Berkenou J, Rothenbuhler A, Contarino A, Ferrante E, Arosio M, Giannetta E, Linglart A, Mantovani G. Cremaschi A, et al. Among authors: rothenbuhler a. J Clin Endocrinol Metab. 2024 Jun 28:dgae416. doi: 10.1210/clinem/dgae416. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38940443
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection.
Marchal A, Cirulli ET, Neveux I, Bellos E, Thwaites RS, Schiabor Barrett KM, Zhang Y, Nemes-Bokun I, Kalinova M, Catchpole A, Tangye SG, Spaan AN, Lack JB, Ghosn J, Burdet C, Gorochov G, Tubach F, Hausfater P; COVID Human Genetic Effort; COVIDeF Study Group; French COVID Cohort Study Group; CoV-Contact Cohort; COVID-STORM Clinicians; COVID Clinicians; Orchestra Working Group; Amsterdam UMC COVID-19 Biobank; NIAID-USUHS COVID Study Group; Dalgard CL, Zhang SY, Zhang Q, Chiu C, Fellay J, Grzymski JJ, Sancho-Shimizu V, Abel L, Casanova JL, Cobat A, Bolze A. Marchal A, et al. HGG Adv. 2024 Jul 18;5(3):100300. doi: 10.1016/j.xhgg.2024.100300. Epub 2024 Apr 26. HGG Adv. 2024. PMID: 38678364 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.
Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1.
Lévy R, Escudier A, Bastard P, Briand C, Polivka L, Stoupa A, Talbotec C, Rothenbuhler A, Charbit M, Debray D, Bodemer C, Casanova JL, Linglart A, Neven B. Lévy R, et al. Among authors: rothenbuhler a. J Clin Immunol. 2023 Dec 19;44(1):5. doi: 10.1007/s10875-023-01629-x. J Clin Immunol. 2023. PMID: 38112858 Free PMC article.
XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH).
Seefried L, Alzahrani A, Arango Sancho P, Bacchetta J, Crowley R, Emma F, Gibbins J, Grandone A, Javaid MK, Mindler G, Raimann A, Rothenbuhler A, Tucker I, Zeitlin L, Linglart A. Seefried L, et al. Among authors: rothenbuhler a. Orphanet J Rare Dis. 2023 Oct 27;18(Suppl 2):333. doi: 10.1186/s13023-023-02883-3. Orphanet J Rare Dis. 2023. PMID: 37885021 Free PMC article. No abstract available.
92 results