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Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
Horesh ME, Martin-Fernandez M, Gruber C, Buta S, Le Voyer T, Puzenat E, Lesmana H, Wu Y, Richardson A, Stein D, Hodeib S, Youssef M, Kurowski JA, Feuille E, Pedroza LA, Fuleihan RL, Haseley A, Hovnanian A, Quartier P, Rosain J, Davis G, Mullan D, Stewart O, Patel R, Lee AE, Rubinstein R, Ewald L, Maheshwari N, Rahming V, Chinn IK, Lupski JR, Orange JS, Sancho-Shimizu V, Casanova JL, Abul-Husn NS, Itan Y, Milner JD, Bustamante J, Bogunovic D. Horesh ME, et al. Among authors: patel r. J Exp Med. 2024 Jun 3;221(6):e20232387. doi: 10.1084/jem.20232387. Epub 2024 Apr 2. J Exp Med. 2024. PMID: 38563820 Free PMC article.
Mapping Systemic Inflammation and Antibody Responses in Multisystem Inflammatory Syndrome in Children (MIS-C).
Gruber C, Patel R, Trachman R, Lepow L, Amanat F, Krammer F, Wilson KM, Onel K, Geanon D, Tuballes K, Patel M, Mouskas K, Simons N, Barcessat V, Valle DD, Udondem S, Kang G, Gangadharan S, Ofori-Amanfo G, Rahman A, Kim-Schulze S, Charney A, Gnjatic S, Gelb BD, Merad M, Bogunovic D. Gruber C, et al. Among authors: patel m, patel r. medRxiv [Preprint]. 2020 Jul 6:2020.07.04.20142752. doi: 10.1101/2020.07.04.20142752. medRxiv. 2020. Update in: Cell. 2020 Nov 12;183(4):982-995.e14. doi: 10.1016/j.cell.2020.09.034 PMID: 32676612 Free PMC article. Updated. Preprint.
Mapping Systemic Inflammation and Antibody Responses in Multisystem Inflammatory Syndrome in Children (MIS-C).
Gruber CN, Patel RS, Trachtman R, Lepow L, Amanat F, Krammer F, Wilson KM, Onel K, Geanon D, Tuballes K, Patel M, Mouskas K, O'Donnell T, Merritt E, Simons NW, Barcessat V, Del Valle DM, Udondem S, Kang G, Gangadharan S, Ofori-Amanfo G, Laserson U, Rahman A, Kim-Schulze S, Charney AW, Gnjatic S, Gelb BD, Merad M, Bogunovic D. Gruber CN, et al. Among authors: patel rs, patel m. Cell. 2020 Nov 12;183(4):982-995.e14. doi: 10.1016/j.cell.2020.09.034. Epub 2020 Sep 14. Cell. 2020. PMID: 32991843 Free PMC article.
Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome.
Malle L, Bastard P, Martin-Nalda A, Carpenter T, Bush D, Patel R, Colobran R, Soler-Palacin P, Casanova JL, Gans M, Rivière JG, Bogunovic D. Malle L, et al. Among authors: patel r. J Clin Immunol. 2021 Oct;41(7):1457-1462. doi: 10.1007/s10875-021-01078-4. Epub 2021 Jun 5. J Clin Immunol. 2021. PMID: 34089457 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. Among authors: patel r. 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.
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. Among authors: patel rs. 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. Among authors: patel rs. 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.
Broad-spectrum RNA antiviral inspired by ISG15 -/- deficiency.
Akalu YT, Patel RS, Taft J, Canas-Arranz R, Richardson A, Buta S, Martin-Fernandez M, Sazeides C, Pearl RL, Mainkar G, Kurland AP, Geltman R, Rosberger H, Kang DD, Kurian AA, Kaur K, Altman J, Dong Y, Johnson JR, Zhangi L, Lim JK, Albrecht RA, García-Sastre A, Rosenberg BR, Bogunovic D. Akalu YT, et al. Among authors: patel rs. bioRxiv [Preprint]. 2024 Jun 28:2024.06.24.600468. doi: 10.1101/2024.06.24.600468. bioRxiv. 2024. PMID: 38979204 Free PMC article. Preprint.
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