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Pediatric Rheumatology
Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

PW02-012 - First clinical description of an infant with DITRA

Authors: L Rossi-Semerano, M Piram, C Chiaverini, D De Ricaud, A Smahi, I Koné-Paut

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

Interleukin-36-receptor antagonist deficiency (DITRA) is a recently described auto-inflammatory disease1, characterized by repeated flares of generalized pustular psoriasis, high fever, asthenia and systemic inflammation. This condition is caused by homozygous missense mutation in the IL36RN gene, encoding the interleukin-36-receptor antagonist (IL-36Ra), an anti-inflammatory cytokine. We report herein the first exhaustive clinical description of an infant with DITRA, who was successfully treated with anakinra. …
Literature
1.
Marrakchi S, Guigue P, Renshaw BR: Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med. 2011, 365 (7): 620-8. 10.1056/NEJMoa1013068.CrossRefPubMed
2.
Aksentijevich I, Masters SL, Ferguson PJ: An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist. N Engl J Med. 2009, 360 (23): 2426-2437. 10.1056/NEJMoa0807865. doi:10.1056/NEJMoa0807865PubMedCentralCrossRefPubMed
3.
Onoufriadis A, Simpson MA, Pink AE: Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis. Am J Hum Genet. 2011, 89 (3): 432-437. 10.1016/j.ajhg.2011.07.022.PubMedCentralCrossRefPubMed
Metadata
Title
PW02-012 - First clinical description of an infant with DITRA
Authors
L Rossi-Semerano
M Piram
C Chiaverini
D De Ricaud
A Smahi
I Koné-Paut
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-A152

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