KEGG   DISEASE: NLRP1-associated autoinflammation with arthritis and dyskeratosis
Entry
H02588                      Disease                                
Name
NLRP1-associated autoinflammation with arthritis and dyskeratosis;
Autoinflammation with arthritis and dyskeratosis
Description
NLRP1-associated autoinflammation with arthritis and dyskeratosis (NAIAD) is an autoinflammatory disease characterized by recurrent fever, arthritis, dyskeratosis, and slight autoimmunity. It has been reported that mutations in NLRP1 cause this disease. NLRP1 plays a key role in the innate immune system by directly assembling into inflammasomes and regulating inflammation.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Autoinflammatory disorders
   4A60  Monogenic autoinflammatory syndromes
    H02588  NLRP1-associated autoinflammation with arthritis and dyskeratosis
Pathway-based classification of diseases [BR:br08402]
 Immune system
  nt06521  NLR signaling
   H02588  NLRP1-associated autoinflammation with arthritis and dyskeratosis
Pathway
hsa04621  NOD-like receptor signaling pathway
Network
nt06521 NLR signaling
Gene
NLRP1 [HSA:22861] [KO:K12798]
Other DBs
ICD-11: 4A60
MeSH: D056660
OMIM: 617388
Reference
PMID:27965258
  Authors
Grandemange S, Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C, Frouin E, Seyger M, Girard M, Puechberty J, Costes V, Rodiere M, Carbasse A, Jeziorski E, Portales P, Sarrabay G, Mondain M, Jorgensen C, Apparailly F, Hoppenreijs E, Touitou I, Genevieve D
  Title
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).
  Journal
Ann Rheum Dis 76:1191-1198 (2017)
DOI:10.1136/annrheumdis-2016-210021
Reference
PMID:34635190
  Authors
Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N
  Title
Molecular biology of autoinflammatory diseases.
  Journal
Inflamm Regen 41:33 (2021)
DOI:10.1186/s41232-021-00181-8
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