Nihon rinsho. Japanese journal of clinical medicine
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The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes.
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Pulmonary involvement is a common future in patient with collagen diseases. Some of the pulmonary involvements are a resistant of current available treatment and a fetal condition. These conditions include interstitial pneumonitis in scleroderma, acute diffuse alveolar damage (DAD) in polymyositis/dermatomyositis (PM/DM), alveolar hemorrhage, and pulmonary hypertension in collagen disease. ⋯ Combination therapy with high dose corticosteroids and immunosuppressive drugs (cyclosporin A, cyclophosphamide) is sometimes available therapy. Diffuse alveolar hemorrhage sometimes occurred in collagen disease including antineutrophilic cytoplasmic antibody (ANCA) associated vasculitis, systemic lupus erythematosus. Intensive treatment need to inhibit hemorrhage.