KEGG   DISEASE: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome
Entry
H00287                      Disease                                
Name
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne 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, potentiates the IL-1beta pathway. Elevated TNFalpha levels are also described.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Autoinflammatory disorders
   4A60  Monogenic autoinflammatory syndromes
    H00287  Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome
Pathway-based classification of diseases [BR:br08402]
 Immune system
  nt06521  NLR signaling
   H00287  Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome
Pathway
hsa04621  NOD-like receptor signaling pathway
Network
nt06521 NLR signaling
Gene
PSTPIP1 [HSA:9051] [KO:K12804]
Other DBs
ICD-11: 4A60.Y
MeSH: C536253
OMIM: 604416
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)
DOI:10.1016/S0025-6196(11)63565-9
Reference
PMID:19290936
  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)
DOI:10.1111/j.1600-065X.2008.00747.x
Reference
PMID:11971877
  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)
DOI:10.1093/hmg/11.8.961

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Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (8)   

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