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• W2118300504 abstract "<h3>Objective</h3> The genetic basis of inflammatory bowel disease (IBD) is incompletely understood. The aim of this study was to identify rare genetic variants involved in the pathogenesis of IBD. <h3>Design</h3> Exome sequencing and immunological profiling were performed in a patient with early onset Crohn9s disease (CD). The coding region of the gene encoding X-linked inhibitor of apoptosis protein (<i>XIAP</i>) was sequenced in samples of 275 paediatric IBD and 1047 adult-onset CD patients. <i>XIAP</i> genotyping was performed in samples of 2680 IBD patients and 2864 healthy controls. Functional effects of the variants identified were investigated in primary cells and cultured cell lines. <h3>Results</h3> Our results demonstrate the frequent occurrence of private variants in <i>XIAP</i> in about four percent of male patients with paediatric-onset CD. While <i>XIAP</i> mutations are known to be associated with the primary immunodeficiency (PID) X-linked lymphoproliferative disease type 2 (XLP2), CD patients described here exhibited intestinal inflammation in the absence of XLP2 and harboured a spectrum of mutations partially distinct from that observed in XLP2. The majority of <i>XIAP</i> variants identified was associated with a selective defect in NOD1/2 signalling, impaired NOD1/2-mediated activation of NF-κB, and altered NF-κB-dependent cytokine production. <h3>Conclusions</h3> This study reveals the unanticipated, frequent occurrence of <i>XIAP</i> variants in male paediatric-onset CD. The link between XIAP and NOD1/2, and the association of <i>XIAP</i> variants with XLP2, support the concept of PID in a subset of IBD patients. Moreover, these studies provide a rationale for the implementation of <i>XIAP</i> sequencing in clinical diagnostics in male patients with severe CD." @default.
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• W2118300504 date "2014-02-26" @default.
• W2118300504 modified "2023-10-16" @default.
• W2118300504 title "XIAP variants in male Crohn's disease" @default.
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• W2118300504 cites W1966024067 @default.
• W2118300504 cites W1966928572 @default.
• W2118300504 cites W1970535801 @default.
• W2118300504 cites W1973455657 @default.
• W2118300504 cites W1980991473 @default.
• W2118300504 cites W1983372268 @default.
• W2118300504 cites W1984068087 @default.
• W2118300504 cites W1987613612 @default.
• W2118300504 cites W1988042498 @default.
• W2118300504 cites W1988181926 @default.
• W2118300504 cites W2000224399 @default.
• W2118300504 cites W2004608617 @default.
• W2118300504 cites W2008342326 @default.
• W2118300504 cites W2014501256 @default.
• W2118300504 cites W2022612163 @default.
• W2118300504 cites W2024446466 @default.
• W2118300504 cites W2028895629 @default.
• W2118300504 cites W2036500213 @default.
• W2118300504 cites W2037363141 @default.
• W2118300504 cites W2043554763 @default.
• W2118300504 cites W2043667001 @default.
• W2118300504 cites W2047208232 @default.
• W2118300504 cites W2051989832 @default.
• W2118300504 cites W2059632816 @default.
• W2118300504 cites W2061512720 @default.
• W2118300504 cites W2062843719 @default.
• W2118300504 cites W2063400663 @default.
• W2118300504 cites W2066835641 @default.
• W2118300504 cites W2068056493 @default.
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• W2118300504 cites W2090520729 @default.
• W2118300504 cites W2097903730 @default.
• W2118300504 cites W2102013054 @default.
• W2118300504 cites W2103441770 @default.
• W2118300504 cites W2108135154 @default.
• W2118300504 cites W2108234281 @default.
• W2118300504 cites W2116432220 @default.
• W2118300504 cites W2118340386 @default.
• W2118300504 cites W2119180969 @default.
• W2118300504 cites W2123306235 @default.
• W2118300504 cites W2124573333 @default.
• W2118300504 cites W2126312769 @default.
• W2118300504 cites W2128175802 @default.
• W2118300504 cites W2130487791 @default.
• W2118300504 cites W2133006561 @default.
• W2118300504 cites W2137503836 @default.
• W2118300504 cites W2139198631 @default.
• W2118300504 cites W2143625465 @default.
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• W2118300504 cites W2152532561 @default.
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• W2118300504 cites W2155943701 @default.
• W2118300504 cites W2156163936 @default.
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• W2118300504 cites W2164344962 @default.
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• W2118300504 doi "https://doi.org/10.1136/gutjnl-2013-306520" @default.
• W2118300504 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24572142" @default.
• W2118300504 hasPublicationYear "2014" @default.
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