Trappin ovine molecule |
TRASK |
mitogen-inducible gene 5 |
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[TNFR1-associated periodic syndrome] a form of autosomal dominant periodic fever syndrome characterized by unexplained episodes of fever and severe localized inflammation. McDermott et al (1999) have shown that the underlying cause is a mutation in one of the TNF-alpha receptors (TNFR1, CD120a), which interferes with the generation of soluble receptors (see also: receptor shedding, trans-signaling). The authors have proposed that the auto-inflammatory phenotype may result from impaired downregulation of membrane-bound TNF receptors, i.e., persistent expression of the non-sheddable receptor on the cell surface, and diminished levels of soluble receptors that may have antagonistic activities.
Similar effects are seen in knock-in mice
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