KEGG   DISEASE: Blau syndrome
Entry
H00285                      Disease                                
Name
Blau syndrome
  Subgroup
Sarcoidosis, early-onset [DS:H01309]
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 features 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
Human diseases [BR:br08402]
 Immune system diseases
  Other immune system diseases
   H00285  Blau syndrome
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Autoinflammatory disorders
   4A60  Monogenic autoinflammatory syndromes
    H00285  Blau syndrome
Related
pathway
hsa04621  NOD-like receptor signaling pathway
Gene
NOD2 [HSA:64127] [KO:K10165]
Other DBs
ICD-11: 4A60.Y
MeSH: C538157
OMIM: 186580
Reference
PMID:4056967
  Authors
Blau EB
  Title
Familial granulomatous arthritis, iritis, and rash.
  Journal
J Pediatr 107:689-93 (1985)
DOI:10.1016/S0022-3476(85)80394-2
Reference
  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)
DOI:10.1038/ng720
Reference
  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)
DOI:10.1016/j.autrev.2008.07.034
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