Monogenic autoinflammatory diseases: concept and clinical manifestations

AA De Jesus, R Goldbach-Mansky - Clinical immunology, 2013 - Elsevier
The objective of this review is to describe the clinical manifestations of the growing spectrum
of monogenic autoinflammatory diseases including recently described syndromes. The
autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic
hereditary “periodic fever syndromes”, familial Mediterranean Fever (FMF); TNF receptor
associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/
hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); 2. the cryopyrin …