NOD2
Locus: 16q.
Pathology
germline NOD2 mutations in
- familial juvenile systemic granulomatosis (FJSG) (Blau syndrome)
- early-onset sarcoidosis (#15459013#)
- NOD2-associated granulomatous arthritis
variants in disease susceptibility
- NOD2 (CARD15) is a susceptibility gene in Crohn disease (IBD1 locus) (#12577202#)
- NOD2 (CARD15) is a susceptibility gene in psoriatic arthritis (#12879366#)
Lack of association between CARD15 gene polymorphisms and hidradenitis suppurativa: a pilot study. (#17911997#)
See also
NODs (CARDs)
References
Lack of association between CARD15 gene polymorphisms and hidradenitis suppurativa: a pilot study. Nassar D, Hugot JP, Wolkenstein P, Revuz J. Dermatology. 2007;215(4):359. PMID: #17911997#
Kanazawa N, Okafuji I, Kambe N, Nishikomori R, Nakata-Hizume M, Nagai S, Fuji A, Yuasa T, Manki A, Sakurai Y, Nakajima M, Kobayashi H, Fujiwara I, Tsutsumi H, Utani A, Nishigori C, Heike T, Nakahata T, Miyachi Y. Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. Blood. 2005 Feb 1;105(3):1195-7. Epub 2004 Sep 30. PMID: #15459013#
Wehkamp J, Stange EF. NOD2 mutation and mice: no Crohn’s disease but many lessons to learn. Trends Mol Med. 2005 Jul;11(7):307-9. PMID: #15955743#