KEGG   DISEASE: H00287Help
Entry
H00287                      Disease                                

Name
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome
Description
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autoimflammatory disease with early onset, developing erosive arthritis. It is inherited in an autosomal dominant fashion. Patients typically develop cystic acne, abscesses and cutaneous ulcers, including pyoderma gangrenosum-like lesions. PAPA syndrome is caused by gain-of function mutations in PSTPIP1, a protein capable of associating with pyrin. Mutated PSTPIP1 reduces the inhibitory role of pyrin on inflammasome activation and therefore, potenciates the IL-1beta pathway. Elevated TNFalpha levels are also described.
Category
Immune system disease
BRITE hierarchy
Pathway
NOD-like receptor signaling pathway
Gene
PSTPIP1 [HSA:9051] [KO:K12804]
Drug
Etanercept [DR:D00742]
Infliximab [DR:D02598]
Anakinra [DR:D02934]
Other DBs
MeSH: 
OMIM: 
Reference
PMID:9212761
  Authors
Lindor NM, Arsenault TM, Solomon H, Seidman CE, McEvoy MT
  Title
A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome.
  Journal
Mayo Clin Proc 72:611-5 (1997)
Reference
PMID:18347298 (drug)
  Authors
Farasat S, Aksentijevich I, Toro JR
  Title
Autoinflammatory diseases: clinical and genetic advances.
  Journal
Arch Dermatol 144:392-402 (2008)
Reference
PMID:19290936 (gene)
  Authors
Veillette A, Rhee I, Souza CM, Davidson D
  Title
PEST family phosphatases in immunity, autoimmunity, and autoinflammatory disorders.
  Journal
Immunol Rev 228:312-24 (2009)
Reference
PMID:11971877 (gene)
  Authors
Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S, Lovett M
  Title
Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.
  Journal
Hum Mol Genet 11:961-9 (2002)

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