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Periodic Febrile Encephalopathy with Mixed Connective Tissue Disease: a Novel Phenotype?
2014
Annals of the Pediatric Rheumatology (APR)
Activation of the innate immune system due to single gene mutations is a hallmark of the autoinflammatory syndromes. Typically, these disorders are not associated with autoimmune phenomena. Here we describe a Caucasian male with a complex phenotype comprising features of both an autoinflammatory state and autoimmunity. He had a life-long history of recurrent encephalopathic episodes during which fever, anorexia and drowsiness would develop over a period of a few hours and last for up to seven
doi:10.5455/apr.091520140644
fatcat:m3lehr6b25fkvbz6n2clo6p67m