H00287 | |
H番号 | H00287 |
名称 | 化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群 |
概要 | 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. |
カテゴリ | 免疫系疾患 |
ネットワーク | nt06521(H00287) NLR signaling |
病因遺伝子 | PSTPIP1 [HSA:9051] [KO:K12804] |
病原体 | - |
環境要因 | - |
発癌物質 | - |
治療薬 | - |
コメント | - |
リンク | ICD-11: 4A60.Y MeSH: C536253 OMIM: 604416 |
文献 | PMID:9212761 著者 Lindor NM, Arsenault TM, Solomon H, Seidman CE, McEvoy MT タイトル A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. 雑誌 Mayo Clin Proc 72:611-5 (1997) DOI:10.1016/S0025-6196(11)63565-9 PMID:19290936 著者 Veillette A, Rhee I, Souza CM, Davidson D タイトル PEST family phosphatases in immunity, autoimmunity, and autoinflammatory disorders. 雑誌 Immunol Rev 228:312-24 (2009) DOI:10.1111/j.1600-065X.2008.00747.x PMID:11971877 著者 Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S, Lovett M タイトル Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. 雑誌 Hum Mol Genet 11:961-9 (2002) DOI:10.1093/hmg/11.8.961 |