KEGG   DISEASE: H00285Help
Entry
H00285                      Disease                                

Name
Blau syndrome
Description
Blau syndrome is an autosomal dominantly-inherited disease which is presented with triad of juvenile-onset granulomatous arthritis, uveitis, and skin rashes. Inflammation of the eyes, camptodactyly and lymphaedenopathy are additional feature of the disease. Missense mutations in the NOD region of NOD2 underlie Blau syndrome, augmenting NOD2 activity even in the absence of pathogenic stimuli. Inflammation seen in patients with Blau syndrome might be due to an aberrant activation of NOD2 and constitutive NF-kappaB activation. Blau syndrome usually occurs in children younger than age 4 years.
Category
Immune system disease
BRITE hierarchy
Pathway
NOD-like receptor signaling pathway
Gene
NOD2 [HSA:64127] [KO:K10165]
Pathogen
Propionobacterium acnes [GN:pac]
Atypical mycobacterium [GN:mav mpa mmi msm mul mgi]
Drug
Infliximab [DR:D02598]
Anakinra [DR:D02934]
Other DBs
MeSH: 
OMIM: 
Reference
PMID:4056967
  Authors
Blau EB
  Title
Familial granulomatous arthritis, iritis, and rash.
  Journal
J Pediatr 107:689-93 (1985)
Reference
PMID:11528384 (gene)
  Authors
Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Hafner R, Chamaillard M, Zouali H, Thomas G, Hugot JP
  Title
CARD15 mutations in Blau syndrome.
  Journal
Nat Genet 29:19-20 (2001)
Reference
PMID:18718560 (gene, drug)
  Authors
Punzi L, Furlan A, Podswiadek M, Gava A, Valente M, De Marchi M, Peserico A
  Title
Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review.
  Journal
Autoimmun Rev 8:228-32 (2009)

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