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1. Caorsi R, Penco F, Grossi A, Insalaco A, Omenetti A, Alessio M, Conti G,Marchetti F, Picco P, Tommasini A, Martino S, Malattia C, Gallizzi R, Podda RA,Salis A, Falcini F, Schena F, Garbarino F, Morreale A, Pardeo M, Ventrici C,Passarelli C, Zhou Q, Severino M, Gandolfo C, Damonte G, Martini A, Ravelli A,Aksentijevich I, Ceccherini I, Gattorno M. ADA2 deficiency (DADA2) as anunrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study. Ann Rheum Dis. 2017 Oct;76(10):1648-1656. doi:10.1136/annrheumdis-2016-210802.2019 Jul;78(7):e73.
2. Garg N, Kasapcopur O, Foster J 2nd, Barut K, Tekin A, Kızılkılıç O, Tekin M.Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy. Eur JPediatr. 2014 Jun;173(6):827-30. doi: 10.1007/s00431-014-2320-8.
3. Meyts I, Aksentijevich I. Deficiency of Adenosine Deaminase 2 (DADA2): Updateson the Phenotype, Genetics, Pathogenesis, and Treatment. J Clin Immunol. 2018Jul;38(5):569-578. doi: 10.1007/s10875-018-0525-8.
4. 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. Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotypein Fifteen Cases. Arthritis Rheumatol. 2016 Sep;68(9):2314-22. doi:10.1002/art.39699.
5. 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.Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl JMed. 2014 Mar 6;370(10):921-31. doi: 10.1056/NEJMoa1307362.
6. Van Montfrans JM, Hartman EA, Braun KP, Hennekam EA, Hak EA, Nederkoorn PJ,Westendorp WF, Bredius RG, Kollen WJ, Schölvinck EH, Legger GE, Meyts I, ListonA, Lichtenbelt KD, Giltay JC, Van Haaften G, De Vries Simons GM, Leavis H,Sanders CJ, Bierings MB, Nierkens S, Van Gijn ME. Phenotypic variability inpatients with ADA2 deficiency due to identical homozygous R169Q mutations.Rheumatology (Oxford). 2016 May;55(5):902-10. doi: 10.1093/rheumatology/kev439.
7. 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, ChalomE, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, GershonTR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M,Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I. Early-onset strokeand vasculopathy associated with mutations in ADA2. N Engl J Med. 2014 Mar6;370(10):911-20. doi: 10.1056/NEJMoa1307361.