doi: 10.1038/ng720.
CARD15 mutations in Blau syndrome
Affiliations
- PMID: 11528384
- DOI: 10.1038/ng720
Item in Clipboard
CARD15 mutations in Blau syndrome
Nat Genet.
2001 Sep.
Abstract
We have identified three missense mutations in the nucleotide-binding domain (NBD) of CARD15/NOD2 in four French and German families with Blau syndrome. Our findings indicate that, in addition to Crohn disease, CARD15 is involved in the susceptibility to a second granulomatous disorder.
Similar articles
-
Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation.Ophthalmology. 2003 Oct;110(10):2040-4. doi: 10.1016/S0161-6420(03)00717-6. Ophthalmology. 2003. PMID: 14522785 Review.
-
Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review.Autoimmun Rev. 2009 Jan;8(3):228-32. doi: 10.1016/j.autrev.2008.07.034. Epub 2008 Aug 19. Autoimmun Rev. 2009. PMID: 18718560
-
Blau syndrome associated with a CARD15/NOD2 mutation.Am J Ophthalmol. 2006 Dec;142(6):1089-92. doi: 10.1016/j.ajo.2006.06.064. Epub 2006 Aug 2. Am J Ophthalmol. 2006. PMID: 17157607
-
A new CARD15 mutation in Blau syndrome.Eur J Hum Genet. 2005 Jun;13(6):742-7. doi: 10.1038/sj.ejhg.5201404. Eur J Hum Genet. 2005. PMID: 15812565
-
Nucleotide-binding oligomerization domain containing 2: structure, function, and diseases.Semin Arthritis Rheum. 2013 Aug;43(1):125-30. doi: 10.1016/j.semarthrit.2012.12.005. Epub 2013 Jan 24. Semin Arthritis Rheum. 2013. PMID: 23352252 Review.
Cited by
-
Sustained Surface ICAM-1 Expression and Transient PDGF-B Production by Phorbol Myristate Acetate-Activated THP-1 Cells Harboring Blau Syndrome-Associated NOD2 Mutations.Children (Basel). 2021 Apr 25;8(5):335. doi: 10.3390/children8050335. Children (Basel). 2021. PMID: 33923123 Free PMC article.
-
Influence of a nucleotide oligomerization domain 1 (NOD1) polymorphism and NOD2 mutant alleles on Crohn's disease phenotype.World J Gastroenterol. 2007 Nov 7;13(41):5446-53. doi: 10.3748/wjg.v13.i41.5446. World J Gastroenterol. 2007. PMID: 17907287 Free PMC article.
-
Paneth cells: their role in innate immunity and inflammatory disease.Gut. 2005 Dec;54(12):1802-9. doi: 10.1136/gut.2005.068601. Gut. 2005. PMID: 16284290 Free PMC article. Review. No abstract available.
-
Higher monocyte expression of TLR2 and TLR4, and enhanced pro-inflammatory synergy of TLR2 with NOD2 stimulation in sarcoidosis.J Clin Immunol. 2009 Jan;29(1):78-89. doi: 10.1007/s10875-008-9225-0. Epub 2008 Sep 5. J Clin Immunol. 2009. PMID: 18773284
-
Using genes to triangulate the pathophysiology of granulomatous autoinflammatory disease: NOD2, PLCG2 and LACC1.Int Immunol. 2018 Apr 25;30(5):205-213. doi: 10.1093/intimm/dxy021. Int Immunol. 2018. PMID: 29538758 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Molecular Biology Databases
