Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy,Rheumatology
Link
http://link.springer.com/article/10.1007/s00296-017-3740-3/fulltext.html
Reference25 articles.
1. Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, Zlotogorski A, Berkun Y, Press JJ, Mukamel M, Voth I, Hashkes PJ, Harel L, Hoffer V, Ling E, Yalcinkaya F, Kasapcopur O, Lee MK, Klevit RE, Renbaum P, Weinberg-Shukron A, Sener EF, Schormair B, Zeligson S, Marek-Yagel D, Strom TM, Shohat M, Singer A, Rubinow A, Pras E, Winkelmann J, Tekin M, Anikster Y, King MC, Levy-Lahad E (2014) Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med 370(10):921–931. doi: 10.1056/NEJMoa1307362
2. 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 (2014) Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med 370(10):911–920. doi: 10.1056/NEJMoa1307361
3. Garg N, Kasapcopur O, Foster J 2nd, Barut K, Tekin A, Kizilkilic O, Tekin M (2014) Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy. Eur J Pediatr 173(6):827–830. doi: 10.1007/s00431-014-2320-8
4. Batu ED, Karadag O, Taskiran EZ, Kalyoncu U, Aksentijevich I, Alikasifoglu M, Ozen S (2015) A case series of adenosine deaminase 2-deficient patients emphasizing treatment and genotype–phenotype correlations. J Rheumatol 42(8):1532–1534. doi: 10.3899/jrheum.150024
5. Nanthapisal S, Murphy C, Omoyinmi E, Hong Y, Standing A, Berg S, Ekelund M, Jolles S, Harper L, Youngstein T, Gilmour K, Klein NJ, Eleftheriou D, Brogan PA (2016) Deficiency of adenosine deaminase type 2: a description of phenotype and genotype in fifteen cases. Arthr Rheumatol 68(9):2314–2322. doi: 10.1002/art.39699
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