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Pediatric Rheumatology
Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

PW02-024 - A case of candle syndrome treated with thalidomide

Authors: K Yamazaki, T Miyamae, S Yokota

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

A new group of autoinflammatory diseases caused by immunoproteasome dysfunction has been recently reported. The mutation in the PSMB8 gene encoding immunoproteasome subunit β type 8 causes a number of clinical syndromes that described as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome and Nakajo-Nishimura syndrome (NNS). …
Literature
1.
Liu Y, Ramot Y, Torrelo A, Paller AS, Si N, Babay S: Mutations in proteasome subunit beta type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum. 64 (3): 895-907.
2.
Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T: Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc Natl Acad Sci U S A. 108 (36): 14914-14919.
3.
Slawinska-Brych A, Zdzisinska B, Mizerska-Dudka M, Kandefer-Szerszen M: Induction of apoptosis in multiple myeloma cells by a statin-thalidomide combination can be enhanced by p38 MAPK inhibition. Leuk Res.
Metadata
Title
PW02-024 - A case of candle syndrome treated with thalidomide
Authors
K Yamazaki
T Miyamae
S Yokota
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-A164

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