Matches in SemOpenAlex for { <https://semopenalex.org/work/W2792477507> ?p ?o ?g. }
- W2792477507 endingPage "213" @default.
- W2792477507 startingPage "205" @default.
- W2792477507 abstract "The intersection of granulomatosis and autoinflammatory disease is a rare occurrence that can be generally subdivided into purely granulomatous phenotypes and disease spectra that are inclusive of granulomatous features. NOD2 (nucleotide-binding oligomerization domain-containing protein 2)-related disease, which includes Blau syndrome and early-onset sarcoidosis, is the prototypic example of granulomatous inflammation in the context of monogenic autoinflammation. Granulomatous inflammation has also been observed in two related autoinflammatory diseases caused by mutations in PLCG2 (phospholipase Cγ2). More recently, mutations in LACC1 (laccase domain-containing protein 1) have been identified as the cause of a monogenic form of systemic juvenile idiopathic arthritis, which does not itself manifest granulomatous inflammation, but the same LACC1 mutations have also been shown to cause an early-onset, familial form of a well-known granulomatous condition, Crohn's disease (CD). Rare genetic variants of PLCG2 have also been shown to cause a monogenic form of CD, and moreover common variants of all three of these genes have been implicated in polygenic forms of CD. Additionally, common variants of NOD2 and LACC1 have been implicated in susceptibility to leprosy, a granulomatous infection. Although no specific mechanistic link exists between these three genes, they form an intriguing web of susceptibility to both monogenic and polygenic autoinflammatory and granulomatous phenotypes." @default.
- W2792477507 created "2018-03-29" @default.
- W2792477507 creator A5080992616 @default.
- W2792477507 creator A5089958351 @default.
- W2792477507 date "2018-03-12" @default.
- W2792477507 modified "2023-10-16" @default.
- W2792477507 title "Using genes to triangulate the pathophysiology of granulomatous autoinflammatory disease: NOD2, PLCG2 and LACC1" @default.
- W2792477507 cites W140691479 @default.
- W2792477507 cites W150391641 @default.
- W2792477507 cites W1542410645 @default.
- W2792477507 cites W1549494446 @default.
- W2792477507 cites W1581139251 @default.
- W2792477507 cites W1642457845 @default.
- W2792477507 cites W1670573097 @default.
- W2792477507 cites W1883324033 @default.
- W2792477507 cites W1925889097 @default.
- W2792477507 cites W1942188537 @default.
- W2792477507 cites W1966637161 @default.
- W2792477507 cites W1967012605 @default.
- W2792477507 cites W1971916873 @default.
- W2792477507 cites W1973897738 @default.
- W2792477507 cites W1977554771 @default.
- W2792477507 cites W1978335738 @default.
- W2792477507 cites W1984801230 @default.
- W2792477507 cites W1987330160 @default.
- W2792477507 cites W1988365589 @default.
- W2792477507 cites W1995106708 @default.
- W2792477507 cites W1995528729 @default.
- W2792477507 cites W1998788962 @default.
- W2792477507 cites W1999677397 @default.
- W2792477507 cites W2003784229 @default.
- W2792477507 cites W2013891216 @default.
- W2792477507 cites W2017213437 @default.
- W2792477507 cites W2018915861 @default.
- W2792477507 cites W2019708712 @default.
- W2792477507 cites W2021462320 @default.
- W2792477507 cites W2021706207 @default.
- W2792477507 cites W2022987102 @default.
- W2792477507 cites W2026404803 @default.
- W2792477507 cites W2032971863 @default.
- W2792477507 cites W2034473382 @default.
- W2792477507 cites W2044459369 @default.
- W2792477507 cites W2044740124 @default.
- W2792477507 cites W2050948458 @default.
- W2792477507 cites W2052127995 @default.
- W2792477507 cites W2053201106 @default.
- W2792477507 cites W2054472394 @default.
- W2792477507 cites W2055177114 @default.
- W2792477507 cites W2055348159 @default.
- W2792477507 cites W2055577456 @default.
- W2792477507 cites W2060674790 @default.
- W2792477507 cites W2072091233 @default.
- W2792477507 cites W2085275537 @default.
- W2792477507 cites W2086391810 @default.
- W2792477507 cites W2086607027 @default.
- W2792477507 cites W2087769239 @default.
- W2792477507 cites W2096156278 @default.
- W2792477507 cites W2097385765 @default.
- W2792477507 cites W2097804771 @default.
- W2792477507 cites W2104858115 @default.
- W2792477507 cites W2105126911 @default.
- W2792477507 cites W2106696914 @default.
- W2792477507 cites W2106779017 @default.
- W2792477507 cites W2106841351 @default.
- W2792477507 cites W2110372095 @default.
- W2792477507 cites W2110643318 @default.
- W2792477507 cites W2110738688 @default.
- W2792477507 cites W2111900042 @default.
- W2792477507 cites W2114163075 @default.
- W2792477507 cites W2120085660 @default.
- W2792477507 cites W2124369311 @default.
- W2792477507 cites W2125097883 @default.
- W2792477507 cites W2126719354 @default.
- W2792477507 cites W2128854185 @default.
- W2792477507 cites W2130594874 @default.
- W2792477507 cites W2139817528 @default.
- W2792477507 cites W2143625465 @default.
- W2792477507 cites W2146401589 @default.
- W2792477507 cites W2146514207 @default.
- W2792477507 cites W2151713498 @default.
- W2792477507 cites W2156584537 @default.
- W2792477507 cites W2158974881 @default.
- W2792477507 cites W2161877165 @default.
- W2792477507 cites W2165369524 @default.
- W2792477507 cites W2165872127 @default.
- W2792477507 cites W2165985213 @default.
- W2792477507 cites W2179196974 @default.
- W2792477507 cites W2182619405 @default.
- W2792477507 cites W2201859789 @default.
- W2792477507 cites W2221264044 @default.
- W2792477507 cites W2235970093 @default.
- W2792477507 cites W2339545100 @default.
- W2792477507 cites W2407403000 @default.
- W2792477507 cites W2414010245 @default.
- W2792477507 cites W2415094030 @default.
- W2792477507 cites W2421298451 @default.
- W2792477507 cites W2467711826 @default.
- W2792477507 cites W2481838947 @default.