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Page 1
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS.
Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, Ospina Cardona D, Rominger E, Hoffmann P, Le MT, Deng Z, Quinn KA, Rose E, Tsai WL, Wigerblad G, Goodspeed W, Jones A, Wilson L, Schnappauf O, Laird RS, Kim J, Allen C, Sirajuddin A, Chen M, Gadina M, Calvo KR, Kaplan MJ, Colbert RA, Aksentijevich I, Young NS, Savic S, Kastner DL, Ombrello AK, Beck DB, Grayson PC. Ferrada MA, et al. Among authors: schnappauf o. Arthritis Rheumatol. 2021 Oct;73(10):1886-1895. doi: 10.1002/art.41743. Epub 2021 Aug 31. Arthritis Rheumatol. 2021. PMID: 33779074
The Pyrin Inflammasome in Health and Disease.
Schnappauf O, Chae JJ, Kastner DL, Aksentijevich I. Schnappauf O, et al. Front Immunol. 2019 Aug 7;10:1745. doi: 10.3389/fimmu.2019.01745. eCollection 2019. Front Immunol. 2019. PMID: 31456795 Free PMC article. Review.
Deficiency of adenosine deaminase 2: Is it an elephant after all?
Schnappauf O, Ombrello AK, Kastner DL. Schnappauf O, et al. J Allergy Clin Immunol. 2020 Jun;145(6):1560-1561. doi: 10.1016/j.jaci.2020.04.023. Epub 2020 Apr 27. J Allergy Clin Immunol. 2020. PMID: 32353490 No abstract available.
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.
Schnappauf O, Zhou Q, Moura NS, Ombrello AK, Michael DG, Deuitch N, Barron K, Stone DL, Hoffmann P, Hershfield M, Applegate C, Bjornsson HT, Beck DB, Witmer PD, Sobreira N, Wohler E, Chiorini JA, Center TAG, Dalgard CL, Center NIS, Kastner DL, Aksentijevich I. Schnappauf O, et al. J Clin Immunol. 2020 Aug;40(6):917-926. doi: 10.1007/s10875-020-00817-3. Epub 2020 Jul 8. J Clin Immunol. 2020. PMID: 32638197 Free PMC article.
Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2.
Schnappauf O, Sampaio Moura N, Aksentijevich I, Stoffels M, Ombrello AK, Hoffmann P, Barron K, Remmers EF, Hershfield M, Kelly SJ; NISC Comparative Sequencing Program; Cuthbertson D, Carette S, Chung SA, Forbess L, Khalidi NA, Koening CL, Langford CA, McAlear CA, Monach PA, Moreland L, Pagnoux C, Seo P, Springer JM, Sreih AG, Warrington KJ, Ytterberg SR, Kastner DL, Grayson PC, Merkel PA; Vasculitis Clinical Research Consortium. Schnappauf O, et al. Arthritis Rheumatol. 2021 Mar;73(3):512-519. doi: 10.1002/art.41549. Epub 2021 Feb 3. Arthritis Rheumatol. 2021. PMID: 33021335 Free PMC article.
TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2).
Deuitch NT, Yang D, Lee PY, Yu X, Moura NS, Schnappauf O, Ombrello AK, Stone D, Kuehn HS, Rosenzweig SD, Hoffmann P, Cudrici C, Levy DM, Kessler E, Soep JB, Hay AD, Dalrymple A, Zhang Y, Sun L, Zhang Q, Tang X, Wu Y, Rao K, Li H, Luo H, Zhang Y, Burnham JM, Boehm M, Barron K, Kastner DL, Aksentijevich I, Zhou Q. Deuitch NT, et al. Among authors: schnappauf o. J Allergy Clin Immunol. 2022 May;149(5):1812-1816.e6. doi: 10.1016/j.jaci.2021.10.030. Epub 2021 Nov 12. J Allergy Clin Immunol. 2022. PMID: 34780847
19 results