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Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.
Philippot Q, Ogishi M, Bohlen J, Puchan J, Arias AA, Nguyen T, Martin-Fernandez M, Conil C, Rinchai D, Momenilandi M, Mahdaviani SA, Keramatipour M, Rosain J, Yang R, Khan T, Neehus AL, Materna M, Han JE, Peel J, Mele F, Weisshaar M, Jovic S, Bastard P, Lévy R, Le Voyer T, Zhang P, Maglorius Renkilaraj MRL, Arango-Franco CA, Pelham S, Seeleuthner Y, Pochon M, Ata MMA, Al Ali F, Migaud M, Soudée C, Kochetkov T, Molitor A, Carapito R, Bahram S, Boisson B, Fieschi C, Mansouri D, Marr N, Okada S, Shahrooei M, Parvaneh N, Chavoshzadeh Z, Cobat A, Bogunovic D, Abel L, Tangye SG, Ma CS, Béziat V, Sallusto F, Boisson-Dupuis S, Bustamante J, Casanova JL, Puel A. Philippot Q, et al. Sci Immunol. 2023 Feb 17;8(80):eabq5204. doi: 10.1126/sciimmunol.abq5204. Epub 2023 Feb 10. Sci Immunol. 2023. PMID: 36763636 Free PMC article.
JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency.
Alsohime F, Martin-Fernandez M, Temsah MH, Alabdulhafid M, Le Voyer T, Alghamdi M, Qiu X, Alotaibi N, Alkahtani A, Buta S, Jouanguy E, Al-Eyadhy A, Gruber C, Hasan GM, Bashiri FA, Halwani R, Hassan HH, Al-Muhsen S, Alkhamis N, Alsum Z, Casanova JL, Bustamante J, Bogunovic D, Alangari AA. Alsohime F, et al. N Engl J Med. 2020 Jan 16;382(3):256-265. doi: 10.1056/NEJMoa1905633. N Engl J Med. 2020. PMID: 31940699 Free PMC article.
Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions.
Martin-Fernandez M, Bravo García-Morato M, Gruber C, Murias Loza S, Malik MNH, Alsohime F, Alakeel A, Valdez R, Buta S, Buda G, Marti MA, Larralde M, Boisson B, Feito Rodriguez M, Qiu X, Chrabieh M, Al Ayed M, Al Muhsen S, Desai JV, Ferre EMN, Rosenzweig SD, Amador-Borrero B, Bravo-Gallego LY, Olmer R, Merkert S, Bret M, Sood AK, Al-Rabiaah A, Temsah MH, Halwani R, Hernandez M, Pessler F, Casanova JL, Bustamante J, Lionakis MS, Bogunovic D. Martin-Fernandez M, et al. Cell Rep. 2020 May 12;31(6):107633. doi: 10.1016/j.celrep.2020.107633. Cell Rep. 2020. PMID: 32402279 Free PMC article.
Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death.
Taft J, Markson M, Legarda D, Patel R, Chan M, Malle L, Richardson A, Gruber C, Martín-Fernández M, Mancini GMS, van Laar JAM, van Pelt P, Buta S, Wokke BHA, Sabli IKD, Sancho-Shimizu V, Chavan PP, Schnappauf O, Khubchandani R, Cüceoğlu MK, Özen S, Kastner DL, Ting AT, Aksentijevich I, Hollink IHIM, Bogunovic D. Taft J, et al. Cell. 2021 Aug 19;184(17):4447-4463.e20. doi: 10.1016/j.cell.2021.07.026. Epub 2021 Aug 6. Cell. 2021. PMID: 34363755 Free PMC article.
A partial form of inherited human USP18 deficiency underlies infection and inflammation.
Martin-Fernandez M, Buta S, Le Voyer T, Li Z, Dynesen LT, Vuillier F, Franklin L, Ailal F, Muglia Amancio A, Malle L, Gruber C, Benhsaien I, Altman J, Taft J, Deswarte C, Roynard M, Nieto-Patlan A, Moriya K, Rosain J, Boddaert N, Bousfiha A, Crow YJ, Jankovic D, Sher A, Casanova JL, Pellegrini S, Bustamante J, Bogunovic D. Martin-Fernandez M, et al. J Exp Med. 2022 Apr 4;219(4):e20211273. doi: 10.1084/jem.20211273. Epub 2022 Mar 8. J Exp Med. 2022. PMID: 35258551 Free PMC article.
ISG15 deficiency restricts HIV-1 infection.
Jurczyszak D, Manganaro L, Buta S, Gruber C, Martin-Fernandez M, Taft J, Patel RS, Cipolla M, Alshammary H, Mulder LCF, Sachidanandam R, Bogunovic D, Simon V. Jurczyszak D, et al. PLoS Pathog. 2022 Mar 25;18(3):e1010405. doi: 10.1371/journal.ppat.1010405. eCollection 2022 Mar. PLoS Pathog. 2022. PMID: 35333911 Free PMC article.
Autoimmunity in Down's syndrome via cytokines, CD4 T cells and CD11c+ B cells.
Malle L, Patel RS, Martin-Fernandez M, Stewart OJ, Philippot Q, Buta S, Richardson A, Barcessat V, Taft J, Bastard P, Samuels J, Mircher C, Rebillat AS, Maillebouis L, Vilaire-Meunier M, Tuballes K, Rosenberg BR, Trachtman R, Casanova JL, Notarangelo LD, Gnjatic S, Bush D, Bogunovic D. Malle L, et al. Nature. 2023 Mar;615(7951):305-314. doi: 10.1038/s41586-023-05736-y. Epub 2023 Feb 22. Nature. 2023. PMID: 36813963 Free PMC article.
256 results