KEGG   DISEASE: STING-associated vasculopathy with onset in infancy
Entry
H01746                      Disease                                

Name
STING-associated vasculopathy with onset in infancy
Description
STING (stimulator of interferon genes)-associated basculopathy with onset in infancy (SAVI) is a rare hereditary autoinflammatory disorder caused by gain-of-function mutations in TMEM173, the gene encoding the STING protein. It is considered that the mutations in the TMEM173 gene confer constitutive activation of STING and hypersensitivity to ligand stimulation, resulting in chronic activation of the STING-interferon pathway. Patients with SAVI have severe neonatal-onset small vessel vasculitis, which is expressed by telangiectatic ulcerative rashes in the limbs, earlobes, or nose, leading to microangiopathic thrombosis, vessel occlusion, and even risk of gangrene. Some SAVI patients may present chronic interstitial lung disease, which can be severe and lethal.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Other immune system diseases
   H01746  STING-associated vasculopathy with onset in infancy
Pathway
hsa04621  NOD-like receptor signaling pathway
hsa04622  RIG-I-like receptor signaling pathway
hsa04623  Cytosolic DNA-sensing pathway
Gene
TMEM173 [HSA:340061] [KO:K12654]
Other DBs
ICD-10: M35.8
OMIM: 615934
Reference
  Authors
Tarantino G, Esposito S, Andreozzi L, Bracci B, D'Errico F, Rigante D
  Title
Lung Involvement in Children with Hereditary Autoinflammatory Disorders.
  Journal
Int J Mol Sci 17:E2111 (2016)
DOI:10.3390/ijms17122111
Reference
  Authors
Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Montealegre Sanchez GA, Tenbrock K, Wittkowski H, Jones OY, Kuehn HS, Lee CC, DiMattia MA, Cowen EW, Gonzalez B, Palmer I, DiGiovanna JJ, Biancotto A, Kim H, Tsai WL, Trier AM, Huang Y, Stone DL, Hill S, Kim HJ, St Hilaire C, Gurprasad S, Plass N, Chapelle D, Horkayne-Szakaly I, Foell D, Barysenka A, Candotti F, Holland SM, Hughes JD, Mehmet H, Issekutz AC, Raffeld M, McElwee J, Fontana JR, Minniti CP, Moir S, Kastner DL, Gadina M, Steven AC, Wingfield PT, Brooks SR, Rosenzweig SD, Fleisher TA, Deng Z, Boehm M, Paller AS, Goldbach-Mansky R
  Title
Activated STING in a vascular and pulmonary syndrome.
  Journal
N Engl J Med 371:507-18 (2014)
DOI:10.1056/NEJMoa1312625
Reference
  Authors
Jeremiah N, Neven B, Gentili M, Callebaut I, Maschalidi S, Stolzenberg MC, Goudin N, Fremond ML, Nitschke P, Molina TJ, Blanche S, Picard C, Rice GI, Crow YJ, Manel N, Fischer A, Bader-Meunier B, Rieux-Laucat F
  Title
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.
  Journal
J Clin Invest 124:5516-20 (2014)
DOI:10.1172/JCI79100
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