Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site
Year: 2010
Type: article
Study design: Case Report
Abstract: We report on a 33-year-old female patient with a relatively mild clinical case of TNF-receptor associated periodic syndrome (TRAPS) and her 58-year-old father in whom end-stage renal disease due to TRAPS-related AA-amyloidosis has already developed. TRAPS was caused by a I170N mutation that has previously not been associated with amyloidosis. It remains unclear if an only mildly affected patient such as ours would benefit from treatment considering her father's severe course of disease. The relevant literature on this problem is reviewed.
Source: Modern Rheumatology
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
Awards: Outcomes in Rheumatic Diseases, Pathogenesis and treatment of autoinflammatory diseases i.e.NOMID,DIRA,CANDLE, SAVI and others, Genetic Analysis of Complex Inflammatory Disorders, Pathogenesis and treatment studies in patients with NOMID and related diseases, Clinical Support Services for the NIAMS Intramural Research Program, Genetics, Natural History, and Pathophysiology of Behcet's Disease, Genetics Of Familial Mediterranean Fever and Related Conditions, Genetics Of Familial Mediterranean Fever and Related Conditions, Genetic Analysis of Complex Inflammatory Disorders, Genetics Of The Dominantly Inherited Periodic Fever Syndromes, Outcomes in Rheumatic Diseases, Rheumatic and Autoimmune Diseases in Minority Communities, Clinical Training in Rheumatology, Genetics Of The Dominantly Inherited Periodic Fever Syndromes, Genetics and Pathophysiology of Systemic Onset Juvenile Idiopathic Arthritis, Clinical Training in Rheumatology, Studies of the Natural History of Rheumatic Diseases, Clinical Support Services for the NIAMS Intramural Research Program
OpenAlex ID: W2166667177