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

STING-associated vasculopathy with onset in infancy
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.
Immune system disease
Human diseases [BR:br08402]
 Immune system diseases
  Other immune system diseases
   H01746  STING-associated vasculopathy with onset in infancy
hsa04621  NOD-like receptor signaling pathway
hsa04622  RIG-I-like receptor signaling pathway
hsa04623  Cytosolic DNA-sensing pathway
TMEM173 [HSA:340061] [KO:K12654]
Other DBs
ICD-10: M35.8
OMIM: 615934
Tarantino G, Esposito S, Andreozzi L, Bracci B, D'Errico F, Rigante D
Lung Involvement in Children with Hereditary Autoinflammatory Disorders.
Int J Mol Sci 17:E2111 (2016)
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
Activated STING in a vascular and pulmonary syndrome.
N Engl J Med 371:507-18 (2014)
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
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.
J Clin Invest 124:5516-20 (2014)

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