KEGG   DISEASE: Autoinflammatory-pancytopenia syndrome
Entry
H02608                      Disease                                
Name
Autoinflammatory-pancytopenia syndrome
Description
Autoinflammatory-pancytopenia syndrome (AIPCS) is an autosomal recessive disorder characterized by variably demonstrating severe neonatal anemia, membranoproliferative glomerulonephritis, liver fibrosis, deforming arthropathy, and increased anti-DNA antibodies. Studies have identified mutations in DNASE2, associated with a loss of DNase II endonuclease activity causing type I interferonopathy.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   3A70  Aplastic anaemia
    H02608  Autoinflammatory-pancytopenia syndrome
Pathway-based classification of diseases [BR:br08402]
 Immune system
  nt06520  CGAS-STING signaling
   H02608  Autoinflammatory-pancytopenia syndrome
Pathway
hsa04623  Cytosolic DNA-sensing pathway
Network
nt06520 CGAS-STING signaling
Gene
DNASE2 [HSA:1777] [KO:K01158]
Other DBs
ICD-11: 3A70.0
OMIM: 619858
Reference
PMID:29259162
  Authors
Rodero MP, Tesser A, Bartok E, Rice GI, Della Mina E, Depp M, Beitz B, Bondet V, Cagnard N, Duffy D, Dussiot M, Fremond ML, Gattorno M, Guillem F, Kitabayashi N, Porcheray F, Rieux-Laucat F, Seabra L, Uggenti C, Volpi S, Zeef LAH, Alyanakian MA, Beltrand J, Bianco AM, Boddaert N, Brouzes C, Candon S, Caorsi R, Charbit M, Fabre M, Faletra F, Girard M, Harroche A, Hartmann E, Lasne D, Marcuzzi A, Neven B, Nitschke P, Pascreau T, Pastore S, Picard C, Picco P, Piscianz E, Polak M, Quartier P, Rabant M, Stocco G, Taddio A, Uettwiller F, Valencic E, Vozzi D, Hartmann G, Barchet W, Hermine O, Bader-Meunier B, Tommasini A, Crow YJ
  Title
Type I interferon-mediated autoinflammation due to DNase II deficiency.
  Journal
Nat Commun 8:2176 (2017)
DOI:10.1038/s41467-017-01932-3
Reference
PMID:35656967
  Authors
MacLauchlan S, Fitzgerald KA, Gravallese EM
  Title
Intracellular Sensing of DNA in Autoinflammation and Autoimmunity.
  Journal
Arthritis Rheumatol 74:1615-1624 (2022)
DOI:10.1002/art.42256
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