KEGG   DISEASE: Inherited autoinflammatory disease
Entry
H02599                      Disease                                
Name
Inherited autoinflammatory disease
  Subgroup
NLRC4 inflammasomopathy [DS:H01748]
Aicardi-Goutieres syndrome [DS:H00290]
ADA2 deficiency [DS:H01382]
Familial Behcet-like autoinflammatory syndrome [DS:H02592]
Description
Inherited autoinflammatory diseases encompass a distinct and growing clinical entity of multisystem inflammatory diseases with known genetic defects in the innate immune system. NLRC4 inflammasomopathy [DS:H01748], Aicardi-Goutieres syndrome [DS:H00290], ADA2 deficiency [DS:H01382], and haploinsufficiency A20/TNFAIP3 [DS:H02592] are included.
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
    H02599  Inherited autoinflammatory disease
Other DBs
ICD-11: 4A60
ICD-10: D89.8
OMIM: 616050 225750 615688 616744
Reference
PMID:34699263
  Authors
Rood JE, Behrens EM
  Title
Inherited Autoinflammatory Syndromes.
  Journal
Annu Rev Pathol 17:227-249 (2022)
DOI:10.1146/annurev-pathmechdis-030121-041528
Reference
PMID:18606080
  Authors
Glaser RL, Goldbach-Mansky R
  Title
The spectrum of monogenic autoinflammatory syndromes: understanding disease mechanisms and use of targeted therapies.
  Journal
Curr Allergy Asthma Rep 8:288-98 (2008)
DOI:10.1007/s11882-008-0047-1
Reference
PMID:29890348
  Authors
Berteau F, Rouviere B, Delluc A, Nau A, Le Berre R, Sarrabay G, Touitou I, de Moreuil C
  Title
Autosomic dominant familial Behcet disease and haploinsufficiency A20: A review of the literature.
  Journal
Autoimmun Rev 17:809-815 (2018)
DOI:10.1016/j.autrev.2018.02.012
LinkDB

» Japanese version

DBGET integrated database retrieval system