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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.
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.
Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM. Meuwissen ME, et al. J Exp Med. 2016 Jun 27;213(7):1163-74. doi: 10.1084/jem.20151529. Epub 2016 Jun 20. J Exp Med. 2016. PMID: 27325888 Free PMC article. Clinical Trial.
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.
Rapid identification of neutralizing antibodies against SARS-CoV-2 variants by mRNA display.
Tanaka S, Olson CA, Barnes CO, Higashide W, Gonzalez M, Taft J, Richardson A, Martin-Fernandez M, Bogunovic D, Gnanapragasam PNP, Bjorkman PJ, Spilman P, Niazi K, Rabizadeh S, Soon-Shiong P. Tanaka S, et al. Cell Rep. 2022 Feb 8;38(6):110348. doi: 10.1016/j.celrep.2022.110348. Epub 2022 Jan 20. Cell Rep. 2022. PMID: 35114110 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.
256 results