KEGG   DISEASE: Sarcoidosis, early-onset
Entry
H01309                      Disease                                
Name
Sarcoidosis, early-onset
  Supergrp
Blau syndrome [DS:H00285]
Description
Early-onset sarcoidosis (EOS) is a special subtype of sarcoidosis, a systematic inflammatory disease with unknown etiology. It occurs in children younger than 4 years of age and is characterized by a distinct triad of skin, joint, and eye disorders without apparent pulmonary involvement. Mutations in the gene encoding NOD2 in humans have been associated with EOS. NOD2 is an intracellular microbial sensor of the innate immune system that can act as a potent activator and regulator of inflammation.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Other immune system diseases
   H01309  Sarcoidosis, early-onset
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Certain disorders involving the immune system
   4B20  Sarcoidosis
    H01309  Sarcoidosis, early-onset
Related
pathway
hsa04621  NOD-like receptor signaling pathway
Gene
NOD2 [HSA:64127] [KO:K10165]
Other DBs
ICD-11: 4B20
ICD-10: D86
MeSH: D012507
OMIM: 186580
Reference
  Authors
Borzutzky A, Fried A, Chou J, Bonilla FA, Kim S, Dedeoglu F
  Title
NOD2-associated diseases: Bridging innate immunity and autoinflammation.
  Journal
Clin Immunol 134:251-61 (2010)
DOI:10.1016/j.clim.2009.05.005
Reference
  Authors
Okafuji I, Nishikomori R, Kanazawa N, Kambe N, Fujisawa A, Yamazaki S, Saito M, Yoshioka T, Kawai T, Sakai H, Tanizaki H, Heike T, Miyachi Y, Nakahata T
  Title
Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis.
  Journal
Arthritis Rheum 60:242-50 (2009)
DOI:10.1002/art.24134
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