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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. Among authors: kelly sj. Arthritis Rheumatol. 2021 Mar;73(3):512-519. doi: 10.1002/art.41549. Epub 2021 Feb 3. Arthritis Rheumatol. 2021. PMID: 33021335
Treatment Strategies for Deficiency of Adenosine Deaminase 2.
Ombrello AK, Qin J, Hoffmann PM, Kumar P, Stone D, Jones A, Romeo T, Barham B, Pinto-Patarroyo G, Toro C, Soldatos A, Zhou Q, Deuitch N, Aksentijevich I, Sheldon SL, Kelly S, Man A, Barron K, Hershfield M, Flegel WA, Kastner DL. Ombrello AK, et al. N Engl J Med. 2019 Apr 18;380(16):1582-1584. doi: 10.1056/NEJMc1801927. N Engl J Med. 2019. PMID: 30995379 Free PMC article. No abstract available.
Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency.
Van Eyck L Jr, Hershfield MS, Pombal D, Kelly SJ, Ganson NJ, Moens L, Frans G, Schaballie H, De Hertogh G, Dooley J, Bossuyt X, Wouters C, Liston A, Meyts I. Van Eyck L Jr, et al. Among authors: kelly sj. J Allergy Clin Immunol. 2015 Jan;135(1):283-7.e5. doi: 10.1016/j.jaci.2014.10.010. Epub 2014 Nov 25. J Allergy Clin Immunol. 2015. PMID: 25457153 Free PMC article. No abstract available.
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