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SNPs in the innate immune receptor nucleotide oligomerisation domain 2 (NOD2) can cause the inflammatory disorders Blau Syndrome (BS) and early onset sarcoidosis (EOS) through receptor hyperactivation. Here, we show that these polymorphisms cluster into two primary locations: the ATP\/Mg<jats:sup>2+<\/jats:sup>\u2010binding site and helical domain 1. Polymorphisms in these two locations may consequently dysregulate ATP hydrolysis and NOD2 autoinhibition, respectively. Complementary mutations in NOD1 did not mirror the NOD2 phenotype, which indicates that NOD1 and NOD2 are activated and regulated by distinct methods.<\/jats:p>","DOI":"10.1016\/j.febslet.2014.07.029","type":"journal-article","created":{"date-parts":[[2014,8,2]],"date-time":"2014-08-02T21:31:56Z","timestamp":1407015116000},"page":"3382-3389","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators"],"prefix":"10.1002","volume":"588","author":[{"given":"Rhiannon","family":"Parkhouse","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph P.","family":"Boyle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom P.","family":"Monie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,8,2]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng720"},{"key":"e_1_2_7_3_1","first-page":"1097","article-title":"Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16","volume":"59","author":"Tromp G.","year":"1996","journal-title":"Am. 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