Genomes and Genes
hereditary autoinflammatory diseases
Summary: Hereditary inflammation conditions, characterized by recurrent episodes of systemic inflammation. Common symptoms include recurrent fever, rash, arthritis, fatigue, and secondary AMYLOIDOSIS. Hereditary autoinflammatory diseases are associated with mutations in genes involved in regulation of normal inflammatory process and are not caused by AUTOANTIBODIES, or antigen specific T-LYMPHOCYTES.
- Brehm A, Liu Y, Sheikh A, MARRERO B, Omoyinmi E, Zhou Q, et al. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest. 2015;125:4196-211 pubmed publisher..Our results provide further insight into CANDLE genetics and link global proteasome dysfunction to increased type I IFN production. ..
- Wittkowski H, Hinze C, Häfner Harms S, Oji V, Masjosthusmann K, Monninger M, et al. Munchausen by proxy syndrome mimicking systemic autoinflammatory disease: case report and review of the literature. Pediatr Rheumatol Online J. 2017;15:19 pubmed publisher..The diagnosis of SAID needs to be carefully reassessed if measurable systemic inflammation is missing, and MBPS should be included in the differential diagnosis. ..
- Ozen S, Demir S. Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient. Paediatr Drugs. 2017;19:303-311 pubmed publisher..Early diagnosis and effective treatment can prevent irreversible organ damage. The scope of pathogenic mutations and more targeted therapy for better management of these rare diseases remains to be defined. ..