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Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
Le Voyer T, Parent AV, Liu X, Cederholm A, Gervais A, Rosain J, Nguyen T, Perez Lorenzo M, Rackaityte E, Rinchai D, Zhang P, Bizien L, Hancioglu G, Ghillani-Dalbin P, Charuel JL, Philippot Q, Gueye MS, Maglorius Renkilaraj MRL, Ogishi M, Soudée C, Migaud M, Rozenberg F, Momenilandi M, Riller Q, Imberti L, Delmonte OM, Müller G, Keller B, Orrego J, Franco Gallego WA, Rubin T, Emiroglu M, Parvaneh N, Eriksson D, Aranda-Guillen M, Berrios DI, Vong L, Katelaris CH, Mustillo P, Raedler J, Bohlen J, Bengi Celik J, Astudillo C, Winter S; NF-κB Consortium; COVID Human Genetic Effort; McLean C, Guffroy A, DeRisi JL, Yu D, Miller C, Feng Y, Guichard A, Béziat V, Bustamante J, Pan-Hammarström Q, Zhang Y, Rosen LB, Holland SM, Bosticardo M, Kenney H, Castagnoli R, Slade CA, Boztuğ K, Mahlaoui N, Latour S, Abraham RS, Lougaris V, Hauck F, Sediva A, Atschekzei F, Sogkas G, Poli MC, Slatter MA, Palterer B, Keller MD, Pinzon-Charry A, Sullivan A, Droney L, Suan D, Wong M, Kane A, Hu H, Ma C, Grombiříková H, Ciznar P, Dalal I, Aladjidi N, Hie M, Lazaro E, Franco J, Keles S, Malphettes M, Pasquet M, Maccari ME, Meinhardt A, Ikinciogullari A, Shahrooei M, Celmeli F, Frosk P, Goodnow CC, Gray … See abstract for full author list ➔ Le Voyer T, et al. Among authors: nguyen t. Nature. 2023 Nov;623(7988):803-813. doi: 10.1038/s41586-023-06717-x. Epub 2023 Nov 8. Nature. 2023. PMID: 37938781 Free PMC article.
IRF4 haploinsufficiency in a family with Whipple's disease.
Guérin A, Kerner G, Marr N, Markle JG, Fenollar F, Wong N, Boughorbel S, Avery DT, Ma CS, Bougarn S, Bouaziz M, Béziat V, Della Mina E, Oleaga-Quintas C, Lazarov T, Worley L, Nguyen T, Patin E, Deswarte C, Martinez-Barricarte R, Boucherit S, Ayral X, Edouard S, Boisson-Dupuis S, Rattina V, Bigio B, Vogt G, Geissmann F, Quintana-Murci L, Chaussabel D, Tangye SG, Raoult D, Abel L, Bustamante J, Casanova JL. Guérin A, et al. Among authors: nguyen t. Elife. 2018 Mar 14;7:e32340. doi: 10.7554/eLife.32340. Elife. 2018. PMID: 29537367 Free PMC article.
Germline-activating mutations in PIK3CD compromise B cell development and function.
Avery DT, Kane A, Nguyen T, Lau A, Nguyen A, Lenthall H, Payne K, Shi W, Brigden H, French E, Bier J, Hermes JR, Zahra D, Sewell WA, Butt D, Elliott M, Boztug K, Meyts I, Choo S, Hsu P, Wong M, Berglund LJ, Gray P, O'Sullivan M, Cole T, Holland SM, Ma CS, Burkhart C, Corcoran LM, Phan TG, Brink R, Uzel G, Deenick EK, Tangye SG. Avery DT, et al. Among authors: nguyen a, nguyen t. J Exp Med. 2018 Aug 6;215(8):2073-2095. doi: 10.1084/jem.20180010. Epub 2018 Jul 17. J Exp Med. 2018. PMID: 30018075 Free PMC article.
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: nguyen t. J Clin Immunol. 2023 Dec 22;44(1):18. doi: 10.1007/s10875-023-01601-9. J Clin Immunol. 2023. PMID: 38129603
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: nguyen t. 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.
Refining sugar's involvement in cholesterol synthesis.
Fenton NM, Nguyen TB, Sharpe LJ, Brown AJ. Fenton NM, et al. Biochim Biophys Acta Mol Cell Biol Lipids. 2023 Mar;1868(3):159266. doi: 10.1016/j.bbalip.2022.159266. Epub 2022 Dec 14. Biochim Biophys Acta Mol Cell Biol Lipids. 2023. PMID: 36528253 Review.
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