TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder.
The TNF-receptor-associated periodic syndrome (TRAPS) is an autosomal dominant auto-inflammatory disorder, characterized by recurrent febrile attacks and localized inflammation. TRAPS is caused by mutations in the gene encoding the TNF Receptor Super Family 1A (TNFRSF1A) on chromosome 12p13. However, the incomplete penetrance and genetic heterogeneity have been reported in this syndrome. Although the ethnic diversity and clinical heterogeneity may propose the role of other genes in the pathogenesis of TRAPS, some low-penetrance TNFRSF1A variants contribute to atypical inflammatory responses in other autoimmune diseases. Furthermore, molecular studies on TRAPS and other auto-inflammatory disorders could be suggested to identify additional genes coding the molecules in the TNF signalling process.
Rezaei
Nima
N
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran. rezaei_nima.hbi.ir
D002881:Chromosomes, Human, Pair 12; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D006801:Humans; D009154:Mutation; D019683:Penetrance; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*
D047888:Receptors, Tumor Necrosis Factor, Type I