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Pediatric Rheumatology
Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

OR13-002 Recessive mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause systemic and cutaneous polyarteritis nodosa (PAN)

Authors: E Levy-Lahad, P Elkan-Navon, R Segel, SB Pierce, T Walsh, J Barash, S Padeh, A Zlotogorski, YY Berkun, JJ Press, M Mukamel, PJ Hashkes, LL Harel, M Tekin, F Yalcinkaya, O Kasapcopur, EF Emirogullari, MK Lee, RE Klevit, PF Renbaum, A Weinberg-Shukron, S Zeligson, D Marek-Yagel, M Shohat, A Singer, E Pras, AA Rubinow, Y Anikster, M-C King

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis of middle-sized arteries, found in both adults and children. Disease pathogenesis is poorly understood. We identified multiple cases of systemic PAN and cutaneous PAN in families and individuals of Georgian-Jewish ancestry, consistent with autosomal recessive inheritance. While most cases (17/20) had childhood onset, cutaneous PAN could also initiate in middle age. …
Metadata
Title
OR13-002 Recessive mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause systemic and cutaneous polyarteritis nodosa (PAN)
Authors
E Levy-Lahad
P Elkan-Navon
R Segel
SB Pierce
T Walsh
J Barash
S Padeh
A Zlotogorski
YY Berkun
JJ Press
M Mukamel
PJ Hashkes
LL Harel
M Tekin
F Yalcinkaya
O Kasapcopur
EF Emirogullari
MK Lee
RE Klevit
PF Renbaum
A Weinberg-Shukron
S Zeligson
D Marek-Yagel
M Shohat
A Singer
E Pras
AA Rubinow
Y Anikster
M-C King
Publication date
01-11-2013
Publisher
BioMed Central
Published in
Pediatric Rheumatology / Issue Special Issue 1/2013
Electronic ISSN: 1546-0096
DOI
https://doi.org/10.1186/1546-0096-11-S1-A264

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