{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:47:10Z","timestamp":1791100030456,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,2,28]],"date-time":"2006-02-28T00:00:00Z","timestamp":1141084800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arthritis &amp; Rheumatism"],"published-print":{"date-parts":[[2006,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To explore tumor necrosis factor (TNF)\u2013induced apoptosis in neutrophils from patients with TNF receptor\u2013associated periodic syndrome (TRAPS) and to correlate the results with the different kinds of <jats:italic>TNFRSF1A<\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Two hundred sixty\u2010five patients with clinically suspected inherited autoinflammatory syndrome were screened for mutations of the <jats:italic>TNFRSF1A<\/jats:italic> gene. Neutrophils were isolated from heparinized blood by dextran sedimentation and incubated with and without cycloheximide (CHX) and TNF\u03b1. Cell apoptosis was assessed by human annexin V binding, and caspase 8 activation was assessed by flow cytometry.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010one patients were found to carry a variant of the <jats:italic>TNFRSF1A<\/jats:italic> gene: 13 patients had an R92Q substitution, and 8 patients presented other missense substitutions, 1 splicing mutation, and 1 in\u2010frame interstitial deletion. Neutrophil stimulation with TNF and CHX was associated with induction of apoptosis in 12 normal controls and in 10 subjects with the R92Q mutation. Conversely, neutrophils from 8 TRAPS patients with mutations of cysteine or threonine residues or interstitial deletion did not show any induction of apoptosis after stimulation. The incidence of the R92Q mutation among patients with recurrent autoinflammatory syndromes was similar to that observed in the normal population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Resistance to TNF\u2010mediated apoptosis is a feature in TRAPS patients who have mutations of cysteine residues or interstitial deletion, and may play a pathogenic role. The R92Q mutation does not appear to be significantly associated with TRAPS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/art.21657","type":"journal-article","created":{"date-parts":[[2006,3,1]],"date-time":"2006-03-01T00:17:10Z","timestamp":1141172230000},"page":"998-1008","source":"Crossref","is-referenced-by-count":123,"title":["Neutrophils from patients with <i>TNFRSF1A<\/i> mutations display resistance to tumor necrosis factor\u2013induced apoptosis: Pathogenetic and clinical 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