H00287 | |
H number | H00287 |
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 |
Network | nt06521(H00287) NLR signaling |
Gene | PSTPIP1 [HSA:9051] [KO:K12804] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
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 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 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 |