KEGG   DISEASE: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndromeHelp
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
Human diseases [BR:br08402]
 Immune system diseases
  Other immune system diseases
   H00287  Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome
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)

» Japanese version

DBGET integrated database retrieval system