{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T12:42:55Z","timestamp":1745757775277},"reference-count":41,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2009,10,29]],"date-time":"2009-10-29T00:00:00Z","timestamp":1256774400000},"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":[[2009,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Hereditary periodic fever syndromes (HPFs) develop as a result of uncontrolled activation of the inflammatory response, with a substantial contribution from interleukin\u20101\u03b2 or tumor necrosis factor \u03b1 (TNF\u03b1). The HPFs include familial Mediterranean fever (FMF), hyperimmunoglobulinemia D with periodic fever syndrome (HIDS), TNF receptor\u2013associated syndrome (TRAPS), and cryopyrinopathies, which are attributable to mutations of the <jats:italic>MEFV<\/jats:italic>, <jats:italic>MVK<\/jats:italic>, <jats:italic>TNFRSF1A<\/jats:italic>, and <jats:italic>CIAS1<\/jats:italic> genes, respectively. However, in many patients, the mutated gene has not been determined; therefore, the condition in these patients with an HPF\u2010like clinical picture is referred to as idiopathic periodic fever (IPF). The aim of this study was to assess involvement of X\u2010linked inhibitor of apoptosis (XIAP), which plays a role in caspase inhibition and NF\u2010\u03baB signaling, both of which are processes that influence the development of inflammatory cells.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The <jats:italic>XIAP<\/jats:italic> gene (X\u2010linked) was sequenced in 87 patients with IPF, 46 patients with HPF (13 with HIDS, 17 with TRAPS, and 16 with FMF), and 182 healthy control subjects. The expression of different alleles was evaluated by sequencing <jats:italic>XIAP<\/jats:italic>\u2010specific complementary DNA mini\u2010libraries and by real\u2010time polymerase chain reaction and Western blot analyses. The functional effect of <jats:italic>XIAP<\/jats:italic> on caspase 9 activity was assessed by a fluorimetric assay, and cytokine secretion was evaluated by enzyme\u2010linked immunosorbent assay.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Sequencing disclosed a 1268A&gt;C variation that caused a Q423P amino acid substitution. The frequency of 423Q\u2010homozygous female patients and 423Q\u2010hemizygous male patients was significantly higher in the IPF group than in the control group (69% versus 51%; odds ratio 2.17, 95% confidence interval 1.23\u20133.87, <jats:italic>P<\/jats:italic> = 0.007), whereas no significant difference was detected in the HPF group (59%) compared with controls. In primary lymphocytes and transfected cell lines, 423Q, as compared with 423P, was associated with higher XIAP protein and messenger RNA expression and lower caspase 9 activation. In lipopolysaccharide\u2010activated monocytes, 423Q was associated with higher secretion of TNF\u03b1.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These results suggest that 423Q is a predisposing factor for IPF development, possibly through its influence on monocyte function.<\/jats:p><\/jats:sec>","DOI":"10.1002\/art.24905","type":"journal-article","created":{"date-parts":[[2009,10,29]],"date-time":"2009-10-29T21:16:37Z","timestamp":1256850997000},"page":"3476-3484","source":"Crossref","is-referenced-by-count":12,"title":["The 423Q polymorphism of the X\u2010linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic 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