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Early- Onset Stroke and Vasculopathy Associated with Mutations in ADA2

N.G. Singer; Anton V. Zavialov; M. Boehm; and I. Aksentijevich; D.L. Kastner; G.M. Wood; V. Pascual; C. Toro; A.C. Gotte; N.J. Ganson; S.S. Rich; J.F. Meschia; D.L. Stone; Andrey V. Zavialov; T.A. Fleisher; Q. Zhou; S.D. Rosenzweig; N.J. Patronas; A. Negro; J.C. Mullikin; S. Hambleton; B.K. Barham; J.J. Chae; A. Jones; H.S. Kuehn; E.W. Cowen; F. Candotti; S.J. Kelly; P. Hoffmann; M. Abinun; H.H. Kong; J.W. Verbsky; K.S. Barron; K. Bishop; S.L. Moir; S.E. Kasner; K.R. Calvo; M.S. Hershfield; R. Goldbach-Mansky; H. Alao; S.M. Burgess; C.-C.R. Lee; O. Karadag; E. Chalom; A. Ling; W. Pei; D. Yang; R. Sood; C. Silvin; W.L. Tsai; J.S. Barber; D.T. Chin; T. Heller; J.D. Milner; S. Ozen; T.R. Torgerson; M. Punaro; M. Gadina; E.F. Remmers; T.R. Gershon; B.B. Worrall; M.M. Quezado; A.K. Ombrello; D.E. Kleiner

Early- Onset Stroke and Vasculopathy Associated with Mutations in ADA2

N.G. Singer
Anton V. Zavialov
M. Boehm
and I. Aksentijevich
D.L. Kastner
G.M. Wood
V. Pascual
C. Toro
A.C. Gotte
N.J. Ganson
S.S. Rich
J.F. Meschia
D.L. Stone
Andrey V. Zavialov
T.A. Fleisher
Q. Zhou
S.D. Rosenzweig
N.J. Patronas
A. Negro
J.C. Mullikin
S. Hambleton
B.K. Barham
J.J. Chae
A. Jones
H.S. Kuehn
E.W. Cowen
F. Candotti
S.J. Kelly
P. Hoffmann
M. Abinun
H.H. Kong
J.W. Verbsky
K.S. Barron
K. Bishop
S.L. Moir
S.E. Kasner
K.R. Calvo
M.S. Hershfield
R. Goldbach-Mansky
H. Alao
S.M. Burgess
C.-C.R. Lee
O. Karadag
E. Chalom
A. Ling
W. Pei
D. Yang
R. Sood
C. Silvin
W.L. Tsai
J.S. Barber
D.T. Chin
T. Heller
J.D. Milner
S. Ozen
T.R. Torgerson
M. Punaro
M. Gadina
E.F. Remmers
T.R. Gershon
B.B. Worrall
M.M. Quezado
A.K. Ombrello
D.E. Kleiner
Katso/Avaa
From The New England Journal of Medicine, Zhou et al., Early- Onset Stroke and Vasculopathy Associated with Mutations in ADA2, 370, 911-920. Copyright © 2014 Massachusetts Medical Society. Reprinted with permission (902.0Kb)
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MASSACHUSETTS MEDICAL SOC
doi:10.1056/NEJMoa1307361
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Julkaisun pysyvä osoite on:
https://urn.fi/URN:NBN:fi-fe2021042715266
Tiivistelmä


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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