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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, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Zhang P, 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, 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, Akcan OM, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, Pérez de Diego R, 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, 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, Lermine A, Vidaud M, Boland A, Del… See abstract for full author list ➔ Matuozzo D, et al. Among authors: casanova jl. medRxiv [Preprint]. 2022 Oct 25:2022.10.22.22281221. doi: 10.1101/2022.10.22.22281221. medRxiv. 2022. PMID: 36324795 Free PMC article. Updated. Preprint.
Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC.
Noma K, Tsumura M, Nguyen T, Asano T, Sakura F, Tamaura M, Imanaka Y, Mizoguchi Y, Karakawa S, Hayakawa S, Shoji T, Hosokawa J, Izawa K, Ling Y, Casanova JL, Puel A, Tangye SG, Ma CS, Ohara O, Okada S. Noma K, et al. Among authors: casanova jl. Res Sq [Preprint]. 2023 Aug 1:rs.3.rs-3062583. doi: 10.21203/rs.3.rs-3062583/v1. Res Sq. 2023. PMID: 37577484 Free PMC article. Updated. Preprint.
Chest computed tomography characteristics of critically ill COVID-19 patients with auto-antibodies against type I interferons.
Rapnouil BL, Zaarour Y, Arrestier R, Bastard P, Peiffer B, Moncomble E, Parfait M, Bellaïche R, Casanova JL, Mekontso-Dessap A, Mule S, de Prost N. Rapnouil BL, et al. Among authors: casanova jl. Res Sq [Preprint]. 2023 Jun 13:rs.3.rs-3029654. doi: 10.21203/rs.3.rs-3029654/v1. Res Sq. 2023. PMID: 37398352 Free PMC article. Updated. Preprint.
Mycobacterium tuberculosis resisters despite HIV exhibit activated T cells and macrophages in their pulmonary alveoli.
Schurr E, Dallmann-Sauer M, Fava V, Malherbe S, McDonald C, Orlova M, Kroon E, Cobat A, Boisson-Dupuis S, Hoal E, Abel L, Möller M, Casanova JL, Walzl G, du Plessis N. Schurr E, et al. Among authors: casanova jl. Res Sq [Preprint]. 2024 Jan 31:rs.3.rs-3889020. doi: 10.21203/rs.3.rs-3889020/v1. Res Sq. 2024. PMID: 38352496 Free PMC article. Preprint.
Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Neehus AL, Carey B, Landekic M, Panikulam P, Deutsch G, Ogishi M, Arango-Franco CA, Philippot Q, Modaresi M, Mohammadzadeh I, Berndt MC, Rinchai D, Le Voyer T, Rosain J, Momenilandi M, Martin-Fernandez M, Khan T, Bohlen J, Han JE, Deslys A, Bernard M, Gajardo-Carrasco T, Soudée C, Le Floc'h C, Migaud M, Seeleuthner Y, Jang MS, Nikolouli E, Seyedpour S, Begueret H, Emile JF, Le Guen P, Tavazzi G, Julia Colombo CN, Marzani FC, Angelini M, Trespidi F, Ghirardello S, Alipour N, Molitor A, Carapito R, Mazloomrezaei M, Rokni-Zadeh H, Changi-Ashtiani M, Brouzes C, Vargas P, Borghesi A, Lachmann N, Bahram S, Crestani B, Fayon M, Galode F, Pahari S, Schlesinger LS, Marr N, Bogunovic D, Boisson-Dupuis S, Béziat V, Abel L, Borie R, Young LR, Deterding R, Shahrooei M, Rezaei N, Parvaneh N, Craven D, Gros P, Malo D, Sepulveda FE, Nogee LM, Aladjidi N, Trapnell BC, Casanova JL, Bustamante J. Neehus AL, et al. Among authors: casanova jl. Cell. 2024 May 21:S0092-8674(24)00530-0. doi: 10.1016/j.cell.2024.05.021. Online ahead of print. Cell. 2024. PMID: 38776920 No abstract available.
Salmonella Pneumonia in a Patient with Inherited IL-12Rβ1 Deficiency.
Chbihi M, Boutboul D, Berteloot L, Casanova JL, Bustamante J, Lévy R. Chbihi M, et al. Among authors: casanova jl. J Clin Immunol. 2024 May 22;44(6):132. doi: 10.1007/s10875-024-01722-9. J Clin Immunol. 2024. PMID: 38775893 No abstract available.
Inherited CARD9 Deficiency Due to a Founder Effect in East Asia.
Tomomasa D, Lee BH, Hirata Y, Inoue Y, Majima H, Imanaka Y, Asano T, Katakami T, Lee J, Hijikata A, Worakitchanon W, Yang X, Wang X, Watanabe A, Kamei K, Kageyama Y, Seo GH, Fujimoto A, Casanova JL, Puel A, Morio T, Okada S, Kanegane H. Tomomasa D, et al. Among authors: casanova jl. J Clin Immunol. 2024 May 17;44(5):121. doi: 10.1007/s10875-024-01724-7. J Clin Immunol. 2024. PMID: 38758287
1,014 results