A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä
Early- Onset Stroke and Vasculopathy Associated with Mutations in ADA2
Tekijät: 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
Kustantaja: MASSACHUSETTS MEDICAL SOC
Julkaisuvuosi: 2014
Journal: New England Journal of Medicine
Tietokannassa oleva lehden nimi: NEW ENGLAND JOURNAL OF MEDICINE
Lehden akronyymi: NEW ENGL J MED
Vuosikerta: 370
Numero: 10
Aloitussivu: 911
Lopetussivu: 920
Sivujen määrä: 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 ...
Ladattava julkaisu This is an electronic reprint of the original article. |  |
