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Pediatric Rheumatology
Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

P02-002 - IL36RN mutations in patients with DITRA

Authors: JI Arostegui, MA Vicente-Villa, A Chaves, E Gonzalez-Roca, E Ruiz-Ortiz, J Rius, S Plaza, MA Gonzalez-Enseñat, J Yague

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

Loss-of-function mutations in the IL36RN gene define a novel recessively inherited autoinflammatory syndrome named deficiency of IL-36 receptor antagonist (DITRA). This genetically determined deficiency was first described in a subgroup of patients with generalized pustular psoriasis. It is a life-threatening condition characterized by recurrent episodes of severe skin inflammation, with pustule development, associated with fever, malaise, extracutaneous involvement, neutrophilia and a marked acute phase response. …
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Metadata
Title
P02-002 - IL36RN mutations in patients with DITRA
Authors
JI Arostegui
MA Vicente-Villa
A Chaves
E Gonzalez-Roca
E Ruiz-Ortiz
J Rius
S Plaza
MA Gonzalez-Enseñat
J Yague
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-A109

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