Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, Mansfield E, Gadina M, Karenko L, Pettersson T, McCarthy J, et al.
Cell · 1999
Grade Acohort
Key Findings
- ●Identified TNFRSF1A mutations as the cause of familial Hibernian fever/TRAPS
- ●Proposed defective TNFR1 shedding as pathogenic mechanism
- ●Established TRAPS as a distinct autoinflammatory syndrome
Referenced in (1 disease)
ID: pmid-10199409DOI: 10.1016/S0092-8674(00)80721-7PMID: 10199409