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761 results

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Page 1
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.
Birt-Hogg-Dubé syndrome initially diagnosed as tuberous sclerosis complex.
Pithadia DJ, Treichel AM, Lee CR, Cowen EW, Linehan WM, Moss J, Darling TN. Pithadia DJ, et al. Among authors: lee cr. JAAD Case Rep. 2019 Apr 5;5(4):368-371. doi: 10.1016/j.jdcr.2019.02.009. eCollection 2019 Apr. JAAD Case Rep. 2019. PMID: 31008171 Free PMC article. No abstract available.
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.
Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype.
Ferré EMN, Yu Y, Oikonomou V, Hilfanova A, Lee CR, Rosen LB, Burbelo PD, Vazquez SE, Anderson MS, Barocha A, Heller T, Soldatos A, Holland SM, Walkiewicz MA, Lionakis MS. Ferré EMN, et al. Among authors: lee cr. Front Immunol. 2023 Feb 17;14:1133387. doi: 10.3389/fimmu.2023.1133387. eCollection 2023. Front Immunol. 2023. PMID: 36875114 Free PMC article.
Anakinra-Associated Systemic Amyloidosis.
Alehashemi S, Dasari S, Metpally A, Uss K, Castelo-Soccio LA, Heller T, Kellman P, Chen MY, Ahlman M, Kim J, Wargo S, Kuhns DB, Fink D, de Jesus A, Martin PS, Chang R, Bolanos J, Lee CR, Nasr SH, Goldbach-Mansky R, McPhail E. Alehashemi S, et al. Among authors: lee cr. Arthritis Rheumatol. 2024 Jan;76(1):100-106. doi: 10.1002/art.42664. Epub 2023 Nov 29. Arthritis Rheumatol. 2024. PMID: 37488949
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.
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 Feb 26:ard-2023-225085. doi: 10.1136/ard-2023-225085. Online ahead of print. Ann Rheum Dis. 2024. PMID: 38408849 Free article.
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.
Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Ferre EM, Rose SR, Rosenzweig SD, Burbelo PD, Romito KR, Niemela JE, Rosen LB, Break TJ, Gu W, Hunsberger S, Browne SK, Hsu AP, Rampertaap S, Swamydas M, Collar AL, Kong HH, Lee CR, Chascsa D, Simcox T, Pham A, Bondici A, Natarajan M, Monsale J, Kleiner DE, Quezado M, Alevizos I, Moutsopoulos NM, Yockey L, Frein C, Soldatos A, Calvo KR, Adjemian J, Similuk MN, Lang DM, Stone KD, Uzel G, Kopp JB, Bishop RJ, Holland SM, Olivier KN, Fleisher TA, Heller T, Winer KK, Lionakis MS. Ferre EM, et al. Among authors: lee cr. JCI Insight. 2016 Aug 18;1(13):e88782. doi: 10.1172/jci.insight.88782. JCI Insight. 2016. PMID: 27588307 Free PMC article.
761 results