periodic fever, familial, autosomal dominant
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Related to periodic fever, familial, autosomal dominant: trapezius muscle, tumor necrosis factor receptor-associated periodic syndrome
periodic fever, familial, autosomal dominantA hereditary periodic fever syndrome (OMIM:142680) characterised by recurrent fever, abdominal pain, localised tender skin lesions and myalgia. The main complication is amyloidosis, which occurs in 25% of cases.
Caused by defects of TNFRSF1A, which encodes a major receptor for TNF-alpha that activates NF-kappaB, mediates apoptosis and regulates inflammation.