A1 Refereed original research article in a scientific journal
Early- Onset Stroke and Vasculopathy Associated with Mutations in ADA2
Authors: Q. Zhou, D. Yang, A.K. Ombrello, Andrey V. Zavialov, C. Toro, Anton V. Zavialov, D.L. Stone, J.J. Chae, S.D. Rosenzweig, K. Bishop, K.S. Barron, H.S. Kuehn, P. Hoffmann, A. Negro, W.L. Tsai, E.W. Cowen, W. Pei, J.D. Milner, C. Silvin, T. Heller, D.T. Chin, N.J. Patronas, J.S. Barber, C.-C.R. Lee, G.M. Wood, A. Ling, S.J. Kelly, D.E. Kleiner, J.C. Mullikin, N.J. Ganson, H.H. Kong, S. Hambleton, F. Candotti, M.M. Quezado, K.R. Calvo, H. Alao, B.K. Barham, A. Jones, J.F. Meschia, B.B. Worrall, S.E. Kasner, S.S. Rich, R. Goldbach-Mansky, M. Abinun, E. Chalom, A.C. Gotte, M. Punaro, V. Pascual, J.W. Verbsky, T.R. Torgerson, N.G. Singer, T.R. Gershon, S. Ozen, O. Karadag, T.A. Fleisher, E.F. Remmers, S.M. Burgess, S.L. Moir, M. Gadina, R. Sood, M.S. Hershfield, M. Boehm, D.L. Kastner, and I. Aksentijevich
Publisher: MASSACHUSETTS MEDICAL SOC
Publication year: 2014
Journal: New England Journal of Medicine
Journal name in source: NEW ENGLAND JOURNAL OF MEDICINE
Journal acronym: NEW ENGL J MED
Volume: 370
Issue: 10
First page : 911
Last page: 920
Number of pages: 10
ISSN: 0028-4793
DOI: https://doi.org/10.1056/NEJMoa1307361
Adenosine deaminase 2 (ADA2) is an enzyme involved in purine metabolism and a growth factor that influences the development of endothelial cells and leukocytes. This study shows that defects in ADA2 cause recurrent fevers, vascular pathologic features, and mild immunodeficiency. Patients with autoinflammatory disease sometimes present with clinical findings that encompass multiple organ systems.(1) Three unrelated children presented to the National Institutes of Health (NIH) Clinical Center with intermittent fevers, recurrent lacunar strokes, elevated levels of acute-phase reactants, livedoid rash, hepatosplenomegaly, and hypogammaglobulinemia. Collectively, these findings do not easily fit with any of the known inherited autoinflammatory diseases. Hereditary or acquired vascular disorders can have protean manifestations yet be caused by mutations in a single gene. Diseases such as the Aicardi-Goutieres syndrome,(2),(3) polypoidal choroidal vasculopathy,(4) sickle cell anemia,(5) livedoid vasculopathy,(6) and the small-vessel vasculitides(7),(8) are examples of systemic ...
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