KEGG   DISEASE: Interleukin-18 binding protein deficiency
Entry
H02591                      Disease                                
Name
Interleukin-18 binding protein deficiency
Description
Interleukin-18 binding protein deficiency is caused by inborn errors in IL18BP, which encodes IL-18 binding protein (IL-18BP), resulting in fulminant viral hepatitis (FVH) by unleashing IL-18. IL-18BP is the naturally occurring antagonist of IL-18.
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
    H02591  Interleukin-18 binding protein deficiency
Gene
IL18BP [HSA:10068] [KO:K25565]
Other DBs
ICD-11: 4A60
ICD-10: D89.8
MeSH: D056660
OMIM: 604113
Reference
PMID:31213488
  Authors
Belkaya S, Michailidis E, Korol CB, Kabbani M, Cobat A, Bastard P, Lee YS, Hernandez N, Drutman S, de Jong YP, Vivier E, Bruneau J, Beziat V, Boisson B, Lorenzo-Diaz L, Boucherit S, Sebagh M, Jacquemin E, Emile JF, Abel L, Rice CM, Jouanguy E, Casanova JL
  Title
Inherited IL-18BP deficiency in human fulminant viral hepatitis.
  Journal
J Exp Med 216:1777-1790 (2019)
DOI:10.1084/jem.20190669
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
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