KEGG DISEASE: NLRP1-associated autoinflammation with arthritis and dyskeratosis

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

LinkDB

» Japanese version

DISEASE: Vitiligo

Entry

H01372                      Disease

Name

Vitiligo

Subgroup

Vitiligo-associated multiple autoimmune disease (VAMAS)

Description

Vitiligo is a common, multifactorial, polygenic disease in which autoimmune loss of melanocytes results in depigmented spots of skin, overlying hair, and mucous membranes. Some familial forms of vitiligo have recently been linked to polymorphisms in the innate immunity gene, NLRP1.