CARD15
NOD2
Locus: 16q.
Pathology
germline CARD15 mutations in
- familial juvenile systemic granulomatosis (FJSG) (Blau syndrome)
- early-onset sarcoidosis (15459013)
variants in disease susceptibility
- CARD15 is a susceptibility gene in Crohn disease (IBD1 locus) (12577202)
- CARD15 is a susceptibility gene in psoriatic arthritis (12879366)
See also
References
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