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Pediatric Rheumatology
Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

P02-006 - A novel PSTPIP1 mutation in PAPA syndrome

Authors: B Fathalla, M Al-Mutawa, F Al-Amri, S Al-Dosari, M Kambouris, H El-Shanti

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is an autosomal dominant autoinflammatory disease caused by mutations in the proline-serine-threonine phosphatase-interacting protein 1, PSTPIP1. …
Literature
1.
Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S, Lovett M: Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet. 2002, 11: 961-969. 10.1093/hmg/11.8.961.CrossRefPubMed
2.
Masters SL, Simon A, Aksentijevich I, Kastner DL: Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol. 2009, 27: 621-668. 10.1146/annurev.immunol.25.022106.141627.PubMedCentralCrossRefPubMed
3.
Smith EJ, Allantaz F, Bennett L, Zhang D, Gao X, Wood G, Kastner DL, Punaro M, Aksentijevich I, Pascual V: Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review. Current genomics. 2010, 11: 519-527. 10.2174/138920210793175921.PubMedCentralCrossRefPubMed
Metadata
Title
P02-006 - A novel PSTPIP1 mutation in PAPA syndrome
Authors
B Fathalla
M Al-Mutawa
F Al-Amri
S Al-Dosari
M Kambouris
H El-Shanti
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-A113

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