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Case report: Refractory Evans syndrome in two patients with spondyloenchondrodysplasia with immune dysregulation treated successfully with JAK1/JAK2 inhibition.
Gernez Y, Narula M, Cepika AM, Valdes Camacho J, Hoyte EG, Mouradian K, Glader B, Singh D, Sathi B, Rao L, Tolin AL, Weinberg KI, Lewis DB, Bacchetta R, Weinacht KG. Gernez Y, et al. Among authors: bacchetta r. Front Immunol. 2024 Jan 29;14:1328005. doi: 10.3389/fimmu.2023.1328005. eCollection 2023. Front Immunol. 2024. PMID: 38347954 Free PMC article. Review.
FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.
Wyatt RC, Olek S, De Franco E, Samans B, Patel K, Houghton J, Walter S, Schulze J, Bacchetta R, Hattersley AT, Flanagan SE, Johnson MB. Wyatt RC, et al. Among authors: bacchetta r. J Clin Immunol. 2023 Apr;43(3):662-669. doi: 10.1007/s10875-022-01428-w. Epub 2023 Jan 5. J Clin Immunol. 2023. PMID: 36600150 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. Among authors: bacchetta r. Elife. 2022 Oct 27;11:e78550. doi: 10.7554/eLife.78550. Elife. 2022. PMID: 36300623 Free PMC article.
Epigenetic signature and key transcriptional regulators of human antigen-specific type 1 regulatory T cells.
Cepika AM, Amaya L, Waichler C, Narula M, Mantilla MM, Thomas BC, Chen PP, Freeborn RA, Pavel-Dinu M, Nideffer J, Porteus M, Bacchetta R, Müller F, Greenleaf WJ, Chang HY, Roncarolo MG. Cepika AM, et al. Among authors: bacchetta r. bioRxiv [Preprint]. 2024 Mar 12:2024.03.07.582969. doi: 10.1101/2024.03.07.582969. bioRxiv. 2024. PMID: 38559096 Free PMC article. Preprint.
Identification of unstable regulatory and autoreactive effector T cells that are expanded in patients with FOXP3 mutations.
Borna Š, Lee E, Nideffer J, Ramachandran A, Wang B, Baker J, Mavers M, Lakshmanan U, Narula M, Garrett AK, Schulze J, Olek S, Marois L, Gernez Y, Bhatia M, Chong HJ, Walter J, Kitcharoensakkul M, Lang A, Cooper MA, Bertaina A, Roncarolo MG, Meffre E, Bacchetta R. Borna Š, et al. Among authors: bacchetta r. Sci Transl Med. 2023 Dec 20;15(727):eadg6822. doi: 10.1126/scitranslmed.adg6822. Epub 2023 Dec 20. Sci Transl Med. 2023. PMID: 38117899 Free PMC article.
168 results