| 1 | ADA2, DBAL1
|
| Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity.
|
| Moens L, Hershfield M, Arts K, Aksentijevich I, Meyts I.
|
| Immunol Rev 287(1):62-72. doi: 10.1111/imr.12722. Review.
2019
|
| 2 | ADA2, DBAL1
|
| The Genetic Landscape of Diamond-Blackfan Anemia.
|
| Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT.
|
| Am J Hum Genet 103(6):930-947. doi: 10.1016/j.ajhg.2018.10.027. Epub 2018 Nov 29. 2018
|
| 3 | ADA2, DBAL1
|
| Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia.
|
| Claassen D, Boals M, Bowling KM, Cooper GM, Cox J, Hershfield M, Lewis S, Wlodarski M, Weiss MJ, Estepp JH.
|
| Cold Spring Harb Mol Case Stud 4(6). pii: a003384. doi: 10.1101/mcs.a003384. Print 2018 Dec.
2018
|
| 4 | ADA2, DBAL1
|
| Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2.
|
| Lee PY.
|
| Front Pediatr 6:282. doi: 10.3389/fped.2018.00282. eCollection 2018. Review.
2018
|
| 5 | ADA2, DBAL1
|
| ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease.
|
| Van Nieuwenhove E, Humblet-Baron S, Van Eyck L, De Somer L, Dooley J, Tousseyn T, Hershfield M, Liston A, Wouters C.
|
| Pediatrics 142(3). pii: e20172266. doi: 10.1542/peds.2017-2266.
2018
|
| 6 | ADA2, DBAL1
|
| Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.
|
| Hashem H, Kumar AR, Müller I, Babor F, Bredius R, Dalal J, Hsu AP, Holland SM, Hickstein DD, Jolles S, Krance R, Sasa G, Taskinen M, Koskenvuo M, Saarela J, van Montfrans J, Wilson K, Bosch B, Moens L, Hershfield M, Meyts I; Deficiency of Adenosine Deaminase Type 2 Foundation.
|
| Blood 130(24):2682-2688. doi: 10.1182/blood-2017-07-798660. Epub 2017 Oct 3.
2017
|
| 7 | ADA2, DBAL1
|
| Monogenic polyarteritis: the lesson of ADA2 deficiency.
|
| Caorsi R, Penco F, Schena F, Gattorno M.
|
| Pediatr Rheumatol Online J 14(1):51. doi: 10.1186/s12969-016-0111-7. Review.
2016
|
| 8 | ADA2, DBAL1
|
| 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.
|
| N Engl J Med 370(10):911-20. doi: 10.1056/NEJMoa1307361. Epub 2014 Feb 19.
2014
|