Citations for
1ADA2, 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
2ADA2, 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
3ADA2, 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
4ADA2, 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
5ADA2, 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
6ADA2
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.
J Allergy Clin Immunol 142(4):1363-1365.e8. doi: 10.1016/j.jaci.2018.05.038. Epub 2018 Jun 21. No abstract available. 2018
7ADA2, 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
8ADA2
CECR1-mediated cross talk between macrophages and vascular mural cells promotes neovascularization in malignant glioma.
Zhu C, Chrifi I, Mustafa D, van der Weiden M, Leenen PJM, Duncker DJ, Kros JM, Cheng C.
Oncogene 36(38):5356-5368. doi: 10.1038/onc.2017.145. Epub 2017 May 22. 2017
9ADA2, 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
10ADA2
Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency.
Westendorp WF, Nederkoorn PJ, Aksentijevich I, Hak AE, Lichtenbelt KD, Braun KP.
Neurology 84(20):2092-3. doi: 10.1212/WNL.0000000000001581. Epub 2015 Apr 17. No abstract available. 2015
11ADA2
Mutations in CECR1 associated with a neutrophil signature in peripheral blood.
Belot A, Wassmer E, Twilt M, Lega JC, Zeef LA, Oojageer A, Kasher PR, Mathieu AL, Malcus C, Demaret J, Fabien N, Collardeau-Frachon S, Mechtouff L, Derex L, Walzer T, Rice GI, Durieu I, Crow YJ.
Pediatr Rheumatol Online J 12:44. doi: 10.1186/1546-0096-12-44. eCollection 2014. 2014
12ADA2
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
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.
N Engl J Med 370(10):921-31. doi: 10.1056/NEJMoa1307362. Epub 2014 Feb 19. 2014
13ADA2, 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
14ADA2
Potential roles of adenosine deaminase-2 in diabetic retinopathy.
Elsherbiny NM, Naime M, Ahmad S, Elsherbini AM, Mohammad S, Fulzele S, El-Remessy AB, Al-Gayyar MM, Eissa LA, El-Shishtawy MM, Han G, White R, Haroldo TF, Liou GI.
Biochem Biophys Res Commun 436(3):355-61. doi: 10.1016/j.bbrc.2013.05.023. Epub 2013 May 16. 2013
15ADA1, ADA2
Structural basis for the growth factor activity of human adenosine deaminase ADA2.
Zavialov AV, Yu X, Spillmann D, Lauvau G, Zavialov AV.
J Biol Chem 285(16):12367-77. doi: 10.1074/jbc.M109.083527. Epub 2010 Feb 9. 2010
16ADA, ADA2
Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity.
Zavialov AV, Engstrom A.
Biochem J 391(Pt 1):51-7. 2005
17ADA2, ATP6V1E1, BID, CECR2, CECR3, CECR4, CECR5, CECR6, CECR7, CECR8, CECR9, CES, SLC25A18
Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere.
Footz TK, Brinkman-Mills P, Banting GS, Maier SA, Riazi MA, Bridgland L, Hu S, Birren B, Minoshima S, Shimizu N, Pan H, Nguyen T, Fang F, Fu Y, Ray L, Wu H, Shaull S, Phan S, Yao Z, Chen F, Huan A, Hu P, Wang Q, Loh P, Qi S, Roe BA, McDermid HE.
Genome Res 11(6):1053-70. 2001
18ADA2, CES
The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome.
Riazi MA, Brinkman-Mills P, Nguyen T, Pan H, Phan S, Ying F, Roe BA, Tochigi J, Shimizu Y, Minoshima S, Shimizu N, Buchwald M, McDermid HE.
Genomics 64(3):277-85. 2000
19ADA2
Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints.
McTaggart KE, Budarf ML, Driscoll DA, Emanuel BS, Ferreira P, McDermid HE.
Cytogenet Cell Genet 81(3-4):222-8. 1998