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Page 1
Early-onset stroke and vasculopathy associated with mutations in ADA2.
Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I. Zhou Q, et al. Among authors: hershfield ms. N Engl J Med. 2014 Mar 6;370(10):911-20. doi: 10.1056/NEJMoa1307361. Epub 2014 Feb 19. N Engl J Med. 2014. PMID: 24552284 Free PMC article.
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.
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.
Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.
Lee PY, Huang Y, Zhou Q, Schnappauf O, Hershfield MS, Li Y, Ganson NJ, Sampaio Moura N, Delmonte OM, Stone SS, Rivkin MJ, Pai SY, Lyons T, Sundel RP, Hsu VW, Notarangelo LD, Aksentijevich I, Nigrovic PA. Lee PY, et al. Among authors: hershfield ms. J Allergy Clin Immunol. 2018 Oct;142(4):1363-1365.e8. doi: 10.1016/j.jaci.2018.05.038. Epub 2018 Jun 21. J Allergy Clin Immunol. 2018. PMID: 29936104 Free PMC article.
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.
Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.
Ben-Ami T, Revel-Vilk S, Brooks R, Shaag A, Hershfield MS, Kelly SJ, Ganson NJ, Kfir-Erenfeld S, Weintraub M, Elpeleg O, Berkun Y, Stepensky P. Ben-Ami T, et al. Among authors: hershfield ms. J Pediatr. 2016 Oct;177:316-320. doi: 10.1016/j.jpeds.2016.06.058. Epub 2016 Aug 8. J Pediatr. 2016. PMID: 27514238
Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation.
Hsu AP, West RR, Calvo KR, Cuellar-Rodriguez J, Parta M, Kelly SJ, Ganson NJ, Hershfield MS, Holland SM, Hickstein DD. Hsu AP, et al. Among authors: hershfield ms. J Allergy Clin Immunol. 2016 Aug;138(2):628-630.e2. doi: 10.1016/j.jaci.2016.03.016. Epub 2016 Apr 6. J Allergy Clin Immunol. 2016. PMID: 27130863 Free PMC article. No abstract available.
Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach.
Jee H, Huang Z, Baxter S, Huang Y, Taylor ML, Henderson LA, Rosenzweig S, Sharma A, Chambers EP, Hershfield MS, Zhou Q, Dedeoglu F, Aksentijevich I, Nigrovic PA, O'Donnell-Luria A, Lee PY. Jee H, et al. Among authors: hershfield ms. J Allergy Clin Immunol. 2022 Jan;149(1):379-387. doi: 10.1016/j.jaci.2021.04.034. Epub 2021 May 15. J Allergy Clin Immunol. 2022. PMID: 34004258 Free PMC article.
224 results