منابع مشابه
Use of TNF inhibitors in the treatment of PAPA syndrome
Introduction PAPA syndrome (pyogenic arthritis, pyoderma gangrenosum and acne syndrome) is a rare autoinflammatory disease caused by mutations in the PSTPIP1 gene. This disease is difficult to treat, but the combination of prednisone, an IL-1 inhibitor and a TNF-inhibitor has, in our experience, helped even the most severely affected patients. Treatment with anakinra appears to prevent most of ...
متن کاملClinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review
PAPA syndrome (Pyogenic Arthritis, Pyoderma gangrenosum, and Acne) is an autosomal dominant, hereditary auto-inflammatory disease arising from mutations in the PSTPIP1/CD2BP1 gene on chromosome 15q. These mutations produce a hyper-phosphorylated PSTPIP1 protein and alter its participation in activation of the "inflammasome" involved in interleukin-1 (IL-1β) production. Overproduction of IL-1β i...
متن کاملP02-006 - A novel PSTPIP1 mutation in PAPA syndrome
Introduction Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is an autosomal dominant autoinflammatory disease caused by mutations in the proline-serinethreonine phosphatase-interacting protein 1, PSTPIP1. The produced protein is a cytoskeleton-associated adaptor protein that modulates T-cell activation, cytoskeletal organization and IL-1b release. The only two mutations desc...
متن کاملPW02-006 - PAPA syndrome clinical spectrum and IL1B release
Introduction Pyogenic sterile Arthritis Pyoderma gangrenosum and Acne (PAPA) syndrome is a rare autosomal dominant inherited autoinflammatory disease caused by mutations in Proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1). In childhood, the syndrome is featured by recurrent sterile, erosive arthritis, potentially leading to joint destruction. By puberty, cutaneous symptoms b...
متن کاملPW02-009 - PAPA syndrome: results from the Euroefever registry
Results In February 2013 baseline and clinical information were available of 2567 patients from 88 centers in the Eurofever registry. Of these 16 patients PAPA patients (M:F = 8:8), from 3 different centers, fulfilled the inclusion criteria and were therefore analysed: 10 were of the same family, in 3 patients the disease was caused by a de novo mutation while in 3 cases the mutation was found ...
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ژورنال
عنوان ژورنال: Rheumatology
سال: 2006
ISSN: 1462-0332,1462-0324
DOI: 10.1093/rheumatology/kei178