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Interrupting an IFN-γ-dependent feedback loop in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne.
Lee W, Stone DL, Hoffmann P, Rosenzweig S, Tsai WL, Gadina M, Romeo T, Lee CR, Randazzo D, Pimpale Chavan P, Manthiram K, Canna S, Park YH, Ombrello AK, Aksentijevich I, Kastner DL, Chae JJ. Lee W, et al. Among authors: lee cr. Ann Rheum Dis. 2024 May 15;83(6):787-798. doi: 10.1136/ard-2023-225085. Ann Rheum Dis. 2024. PMID: 38408849 Free PMC article.
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, Balanda N, Ross DL, Ospina Cardona D, Wu Z, Patel B, Manthiram K, Groarke EM, Gutierrez-Rodrigues F, Hoffmann P, Rosenzweig S, Nakabo S, Dillon LW, Hourigan CS, Tsai WL, Gupta S, Carmona-Rivera C, Asmar AJ, Xu L, Oda H, Goodspeed W, Barron KS, Nehrebecky M, Jones A, Laird RS, Deuitch N, Rowczenio D, Rominger E, Wells KV, Lee CR, Wang W, Trick M, Mullikin J, Wigerblad G, Brooks S, Dell'Orso S, Deng Z, Chae JJ, Dulau-Florea A, Malicdan MCV, Novacic D, Colbert RA, Kaplan MJ, Gadina M, Savic S, Lachmann HJ, Abu-Asab M, Solomon BD, Retterer K, Gahl WA, Burgess SM, Aksentijevich I, Young NS, Calvo KR, Werner A, Kastner DL, Grayson PC. Beck DB, et al. Among authors: lee cr. N Engl J Med. 2020 Dec 31;383(27):2628-2638. doi: 10.1056/NEJMoa2026834. Epub 2020 Oct 27. N Engl J Med. 2020. PMID: 33108101 Free PMC article.
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; Undiagnosed Diseases Network. Kozycki CT, et al. Among authors: lee cr. Ann Rheum Dis. 2022 Oct;81(10):1453-1464. doi: 10.1136/annrheumdis-2022-222629. Epub 2022 Jul 22. Ann Rheum Dis. 2022. PMID: 35868845 Free PMC article.
The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1.
Oikonomou V, Smith G, Constantine GM, Schmitt MM, Ferré EMN, Alejo JC, Riley D, Kumar D, Dos Santos Dias L, Pechacek J, Hadjiyannis Y, Webb T, Seifert BA, Ghosh R, Walkiewicz M, Martin D, Besnard M, Snarr BD, Deljookorani S, Lee CR, DiMaggio T, Barber P, Rosen LB, Cheng A, Rastegar A, de Jesus AA, Stoddard J, Kuehn HS, Break TJ, Kong HH, Castelo-Soccio L, Colton B, Warner BM, Kleiner DE, Quezado MM, Davis JL, Fennelly KP, Olivier KN, Rosenzweig SD, Suffredini AF, Anderson MS, Swidergall M, Guillonneau C, Notarangelo LD, Goldbach-Mansky R, Neth O, Monserrat-Garcia MT, Valverde-Fernandez J, Lucena JM, Gomez-Gila AL, Garcia Rojas A, Seppänen MRJ, Lohi J, Hero M, Laakso S, Klemetti P, Lundberg V, Ekwall O, Olbrich P, Winer KK, Afzali B, Moutsopoulos NM, Holland SM, Heller T, Pittaluga S, Lionakis MS. Oikonomou V, et al. Among authors: lee cr. N Engl J Med. 2024 May 30;390(20):1873-1884. doi: 10.1056/NEJMoa2312665. N Engl J Med. 2024. PMID: 38810185
Corrigendum to: Transcriptome Assessment of Erythema Migrans Skin Lesions in Patients With Early Lyme Disease Reveals Predominant Interferon Signaling.
Marques A, Schwartz I, Wormser GP, Wang Y, Hornung RL, Demirkale CY, Munson PJ, Turk SP, Williams C, Lee CR, Yang J, Petzke MM. Marques A, et al. Among authors: lee cr. J Infect Dis. 2021 Feb 3;223(2):352. doi: 10.1093/infdis/jiaa499. J Infect Dis. 2021. PMID: 32966578 Free PMC article. No abstract available.
Calciphylaxis in POEMS syndrome: Case report.
Novacic D, Uldrick T, Dulau-Florea A, Howe CE, Lee CR, Kong HH, Gahl WA. Novacic D, et al. Among authors: lee cr. Rare. 2024;2:100019. doi: 10.1016/j.rare.2024.100019. Epub 2024 Feb 1. Rare. 2024. PMID: 38435320 Free PMC article.
Aberrant type 1 immunity drives susceptibility to mucosal fungal infections.
Break TJ, Oikonomou V, Dutzan N, Desai JV, Swidergall M, Freiwald T, Chauss D, Harrison OJ, Alejo J, Williams DW, Pittaluga S, Lee CR, Bouladoux N, Swamydas M, Hoffman KW, Greenwell-Wild T, Bruno VM, Rosen LB, Lwin W, Renteria A, Pontejo SM, Shannon JP, Myles IA, Olbrich P, Ferré EMN, Schmitt M, Martin D; Genomics and Computational Biology Core; Barber DL, Solis NV, Notarangelo LD, Serreze DV, Matsumoto M, Hickman HD, Murphy PM, Anderson MS, Lim JK, Holland SM, Filler SG, Afzali B, Belkaid Y, Moutsopoulos NM, Lionakis MS. Break TJ, et al. Among authors: lee cr. Science. 2021 Jan 15;371(6526):eaay5731. doi: 10.1126/science.aay5731. Science. 2021. PMID: 33446526 Free PMC article.
APECED Rash as the First Manifestation of APECED Syndrome.
Ferré EMN, Lee CR, Kong HH, Cowen EW, Lionakis MS. Ferré EMN, et al. Among authors: lee cr. J Clin Immunol. 2023 Nov;43(8):1774-1777. doi: 10.1007/s10875-023-01578-5. Epub 2023 Sep 4. J Clin Immunol. 2023. PMID: 37665538 No abstract available.
762 results