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Rune Busk Damgaard, Berthe Katrine Fiil, Carsten Speckmann, Monica Yabal, Udo zur Stadt, Simon Bekker-Jensen, Philipp J. Jost, Stephan Ehl, Niels Mailand and Mads Gyrd-Hansen Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling EMBO Molecular Medicine 5

Version of Record online: 1 JUL 2013 | DOI: 10.1002/emmm.201303090

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The X-linked lymphoproliferative syndrome type-2 is an immunodeficiency disease caused by mutations in the XIAP gene. BIR2 domain mutations in patients impair RIPK2 binding and NOD2-dependent innate immune signaling, explaining some of the pathology.

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