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NFKB2 haploinsufficiency identified via screening for IFN-α2 autoantibodies in children and adolescents hospitalized with SARS-CoV-2-related complications.
Bodansky A, Vazquez SE, Chou J, Novak T, Al-Musa A, Young C, Newhams M, Kucukak S, Zambrano LD, Mitchell A, Wang CY, Moffitt K, Halasa NB, Loftis LL, Schwartz SP, Walker TC, Mack EH, Fitzgerald JC, Gertz SJ, Rowan CM, Irby K, Sanders RC Jr, Kong M, Schuster JE, Staat MA, Zinter MS, Cvijanovich NZ, Tarquinio KM, Coates BM, Flori HR, Dahmer MK, Crandall H, Cullimore ML, Levy ER, Chatani B, Nofziger R; Overcoming COVID-19 Network Study Group Investigators,; Geha RS, DeRisi J, Campbell AP, Anderson M, Randolph AG. Bodansky A, et al. J Allergy Clin Immunol. 2023 Apr;151(4):926-930.e2. doi: 10.1016/j.jaci.2022.11.020. Epub 2022 Dec 9. J Allergy Clin Immunol. 2023. PMID: 36509151 Free PMC article.
Autoantibody discovery across monogenic, acquired, and COVID-19-associated autoimmunity with scalable PhIP-seq.
Vazquez SE, Mann SA, Bodansky A, Kung AF, Quandt Z, Ferré EMN, Landegren N, Eriksson D, Bastard P, Zhang SY, Liu J, Mitchell A, Proekt I, Yu D, Mandel-Brehm C, Wang CY, Miao B, Sowa G, Zorn K, Chan AY, Tagi VM, Shimizu C, Tremoulet A, Lynch K, Wilson MR, Kämpe O, Dobbs K, Delmonte OM, Bacchetta R, Notarangelo LD, Burns JC, Casanova JL, Lionakis MS, Torgerson TR, Anderson MS, DeRisi JL. Vazquez SE, et al. Elife. 2022 Oct 27;11:e78550. doi: 10.7554/eLife.78550. Elife. 2022. PMID: 36300623 Free PMC article.
Autoantibodies to Perilipin-1 Define a Subset of Acquired Generalized Lipodystrophy.
Mandel-Brehm C, Vazquez SE, Liverman C, Cheng M, Quandt Z, Kung AF, Parent A, Miao B, Disse E, Cugnet-Anceau C, Dalle S, Orlova E, Frolova E, Alba D, Michels A, Oftedal BE, Lionakis MS, Husebye ES, Agarwal AK, Li X, Zhu C, Li Q, Oral E, Brown R, Anderson MS, Garg A, DeRisi JL. Mandel-Brehm C, et al. Diabetes. 2023 Jan 1;72(1):59-70. doi: 10.2337/db21-1172. Diabetes. 2023. PMID: 35709010 Free PMC article.
ZSCAN1 Autoantibodies Are Associated with Pediatric Paraneoplastic ROHHAD.
Mandel-Brehm C, Benson LA, Tran B, Kung AF, Mann SA, Vazquez SE, Retallack H, Sample HA, Zorn KC, Khan LM, Kerr LM, McAlpine PL, Zhang L, McCarthy F, Elias JE, Katwa U, Astley CM, Tomko S, Dalmau J, Seeley WW, Pleasure SJ, Wilson MR, Gorman MP, DeRisi JL. Mandel-Brehm C, et al. Ann Neurol. 2022 Aug;92(2):279-291. doi: 10.1002/ana.26380. Epub 2022 May 25. Ann Neurol. 2022. PMID: 35466441 Free PMC article.
Autoantibody discovery across monogenic, acquired, and COVID19-associated autoimmunity with scalable PhIP-Seq.
Vazquez SE, Mann SA, Bodansky A, Kung AF, Quandt Z, Ferré EMN, Landegren N, Eriksson D, Bastard P, Zhang SY, Liu J, Mitchell A, Mandel-Brehm C, Miao B, Sowa G, Zorn K, Chan AY, Shimizu C, Tremoulet A, Lynch K, Wilson MR, Kampe O, Dobbs K, Delmonte OM, Notarangelo LD, Burns JC, Casanova JL, Lionakis MS, Torgerson TR, Anderson MS, DeRisi JL. Vazquez SE, et al. bioRxiv [Preprint]. 2022 Mar 24:2022.03.23.485509. doi: 10.1101/2022.03.23.485509. bioRxiv. 2022. PMID: 35350199 Free PMC article. Updated. Preprint.
Elevated N-Linked Glycosylation of IgG V Regions in Myasthenia Gravis Disease Subtypes.
Mandel-Brehm C, Fichtner ML, Jiang R, Winton VJ, Vazquez SE, Pham MC, Hoehn KB, Kelleher NL, Nowak RJ, Kleinstein SH, Wilson MR, DeRisi JL, O'Connor KC. Mandel-Brehm C, et al. J Immunol. 2021 Oct 15;207(8):2005-2014. doi: 10.4049/jimmunol.2100225. Epub 2021 Sep 20. J Immunol. 2021. PMID: 34544801 Free PMC article.
Type I interferon autoantibodies are associated with systemic immune alterations in patients with COVID-19.
van der Wijst MGP, Vazquez SE, Hartoularos GC, Bastard P, Grant T, Bueno R, Lee DS, Greenland JR, Sun Y, Perez R, Ogorodnikov A, Ward A, Mann SA, Lynch KL, Yun C, Havlir DV, Chamie G, Marquez C, Greenhouse B, Lionakis MS, Norris PJ, Dumont LJ, Kelly K, Zhang P, Zhang Q, Gervais A, Le Voyer T, Whatley A, Si Y, Byrne A, Combes AJ, Rao AA, Song YS, Fragiadakis GK, Kangelaris K, Calfee CS, Erle DJ, Hendrickson C, Krummel MF, Woodruff PG, Langelier CR, Casanova JL, Derisi JL, Anderson MS, Ye CJ; UCSF COMET consortium. van der Wijst MGP, et al. Sci Transl Med. 2021 Sep 22;13(612):eabh2624. doi: 10.1126/scitranslmed.abh2624. Epub 2021 Aug 24. Sci Transl Med. 2021. PMID: 34429372 Free PMC article.
Longitudinal single-cell epitope and RNA-sequencing reveals the immunological impact of type 1 interferon autoantibodies in critical COVID-19: Anti-IFN antibodies in critical COVID-19 correlate with poor ISG response and upregulation of LAIR1 surface protein in PBMCs.
van der Wijst MGP, Vazquez SE, Hartoularos GC, Bastard P, Grant T, Bueno R, Lee DS, Greenland JR, Sun Y, Perez R, Ogorodnikov A, Ward A, Mann SA, Lynch KL, Yun C, Havlir DV, Chamie G, Marquez C, Greenhouse B, Lionakis MS, Norris PJ, Dumont LJ, Kelly K, Zhang P, Zhang Q, Gervais A, Le Voyer T, Whatley A, Si Y, Byrne A, Combes AJ, Rao AA, Song YS; UCSF COMET consortium; Fragiadakis GK, Kangelaris K, Calfee CS, Erle DJ, Hendrickson C, Krummel MF, Woodruff PG, Langelier CR, Casanova JL, Derisi JL, Anderson MS, Ye CJ. van der Wijst MGP, et al. bioRxiv [Preprint]. 2021 Mar 10:2021.03.09.434529. doi: 10.1101/2021.03.09.434529. bioRxiv. 2021. PMID: 33758859 Free PMC article. Preprint.