McDermott Michael F
Department of Diabetes and Metabolic Medicine, Unit of Molecular Medicine, Barts and the London, Queen Mary's School of Medicine and Dentistry, University of London, London, UK.
Trends Immunol. 2004 Sep;25(9):457-60. doi: 10.1016/j.it.2004.07.007.
Familial Mediterranean fever (FMF) is an autosomal recessive disease due to mutations in pyrin, which normally inhibits pro-interleukin-1beta (IL-1beta) cytokine processing to the active form. A novel role for pyrin has been proposed by Shoham et al., who studied patients with an autosomal dominant disease called pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome. They demonstrated an interaction between pyrin and proline serine threonine phosphatase-interacting protein 1 (PSTPIP1), the protein involved in PAPA, and thus revealed a biochemical pathway common to both FMF and PAPA.
家族性地中海热（FMF）是一种常染色体隐性疾病，由pyrin基因突变引起，pyrin通常可抑制前白细胞介素-1β（IL-1β）细胞因子转化为活性形式。Shoham等人提出了pyrin的一种新作用，他们研究了患有常染色体显性疾病——化脓性关节炎、坏疽性脓皮病和痤疮（PAPA）综合征的患者。他们证明了pyrin与脯氨酸丝氨酸苏氨酸磷酸酶相互作用蛋白1（PSTPIP1）之间的相互作用，PSTPIP1是一种与PAPA相关的蛋白，从而揭示了FMF和PAPA共有的生化途径。
