KEGG   DISEASE: Autoinflammation with infantile enterocolitis
Entry
H01748                      Disease                                

Name
Autoinflammation with infantile enterocolitis
Description
Autoinflammation with infantile enterocolitis (AIFEC) is a rare autosomal dominant disease characterized by neonatal-onset enterocolitis, periodic fever, and fatal/near-fatal episodes of autoinflammation. It was shown that the disease is caused by gain-of-function mutations in NLRC4. NLRC4 protein is known to directly assemble inflammasomes that activate IL-1beta and IL-18.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Other immune system diseases
   H01748  Autoinflammation with infantile enterocolitis
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Autoinflammatory disorders
   4A6Y  Other specified autoinflammatory disorders
    H01748  Autoinflammation with infantile enterocolitis
Related
pathway
hsa04621  NOD-like receptor signaling pathway
Gene
NLRC4 [HSA:58484] [KO:K12805]
Other DBs
ICD-11: 4A6Y
ICD-10: D89.8
OMIM: 616050
Reference
  Authors
Canna SW, de Jesus AA, Gouni S, Brooks SR, Marrero B, Liu Y, DiMattia MA, Zaal KJ, Sanchez GA, Kim H, Chapelle D, Plass N, Huang Y, Villarino AV, Biancotto A, Fleisher TA, Duncan JA, O'Shea JJ, Benseler S, Grom A, Deng Z, Laxer RM, Goldbach-Mansky R
  Title
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.
  Journal
Nat Genet 46:1140-6 (2014)
DOI:10.1038/ng.3089
Reference
  Authors
Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP
  Title
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.
  Journal
Nat Genet 46:1135-9 (2014)
DOI:10.1038/ng.3066
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