Retinal vasculopathy in STING-associated vasculitis of infancy (SAVI)

被引:2
作者
Cooray, Samantha [1 ]
Henderson, Robert [2 ]
Solebo, Ameenat Lola [3 ]
Ancliffe, Phil [4 ]
Eleftheriou, Despina [1 ]
Brogan, Paul A. [1 ]
机构
[1] UCL, Infect Inflammat & Rheumatol Sect, Great Ormond St Inst Child Hlth, 30 Guilford St, London WC1N 1EH, England
[2] Great Ormond St Hosp Childrens NHS Trust, Opthalmol Dept, London, England
[3] UCL, Populat Policy & Practice Res & Teaching Dept, Great Ormond St Inst Child Hlth, London, England
[4] Great Ormond St Childrens NHS Trust, Dept Haematol & Oncol, London, England
关键词
ONSET;
D O I
10.1093/rheumatology/keab297
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:E351 / E353
页数:3
相关论文
共 9 条
  • [1] Cotton-Wool Spots and Retinal Hemorrhages
    Andreoli, Michael T.
    Lim, Jennifer I.
    [J]. JAMA OPHTHALMOLOGY, 2014, 132 (04) : 503 - 504
  • [2] Interstitial Lung Disease Caused by STING-associated Vasculopathy with Onset in Infancy
    Clarke, Sarah L. N.
    Pellowe, Elizabeth J.
    de Jesus, Adriana A.
    Goldbach-Mansky, Raphaela
    Hilliard, Tom N.
    Ramanan, Athimalaipet V.
    [J]. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2016, 194 (05) : 639 - 642
  • [3] Eleftheriou D, 2019, TXB AUTOINFLAMMATION, P433
  • [4] Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations
    Jeremiah, Nadia
    Neven, Benedicte
    Gentili, Matteo
    Callebaut, Isabelle
    Maschalidi, Sophia
    Stolzenberg, Marie-Claude
    Goudin, Nicolas
    Fremond, Marie-Louis
    Nitschke, Patrick
    Molina, Thierry J.
    Blanche, Stephane
    Picard, Capucine
    Rice, Gillian I.
    Crow, Yanick J.
    Manel, Nicolas
    Fischer, Alain
    Bader-Meunier, Brigitte
    Rieux-Laucat, Frederic
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 2014, 124 (12) : 5516 - 5520
  • [5] Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature
    Kavanagh, David
    McGlasson, Sarah
    Jury, Alexa
    Williams, Jac
    Scolding, Neil
    Bellamy, Chris
    Gunther, Claudia
    Ritchie, Diane
    Gale, Daniel P.
    Kanwar, Yashpal S.
    Challis, Rachel
    Buist, Holly
    Overell, James
    Weller, Belinda
    Flossmann, Oliver
    Blunden, Mark
    Meyer, Eric P.
    Krucker, Thomas
    Evans, Stephen J. W.
    Campbell, Iain L.
    Jackson, Andrew P.
    Chandran, Siddharthan
    Hunt, David P. J.
    [J]. BLOOD, 2016, 128 (24) : 2824 - 2833
  • [6] Khemani C, 2007, INDIAN PEDIATR, V44, P933
  • [7] Activated STING in a Vascular and Pulmonary Syndrome
    Liu, Y.
    Jesus, A. A.
    Marrero, B.
    Yang, D.
    Ramsey, S. E.
    Sanchez, G. A. Montealegre
    Tenbrock, K.
    Wittkowski, H.
    Jones, O. Y.
    Kuehn, H. S.
    Lee, C. -C. R.
    DiMattia, M. A.
    Cowen, E. W.
    Gonzalez, B.
    Palmer, I.
    DiGiovanna, J. J.
    Biancotto, A.
    Kim, H.
    Tsai, W. L.
    Trier, A. M.
    Huang, Y.
    Stone, D. L.
    Hill, S.
    Kim, H. J.
    St Hilaire, C.
    Gurprasad, S.
    Plass, N.
    Chapelle, D.
    Horkayne-Szakaly, I.
    Foell, D.
    Barysenka, A.
    Candotti, F.
    Holland, S. M.
    Hughes, J. D.
    Mehmet, H.
    Issekutz, A. C.
    Raffeld, M.
    McElwee, J.
    Fontana, J. R.
    Minniti, C. P.
    Moir, S.
    Kastner, D. L.
    Gadina, M.
    Steven, A. C.
    Wingfield, P. T.
    Brooks, S. R.
    Rosenzweig, S. D.
    Fleisher, T. A.
    Deng, Z.
    Boehm, M.
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2014, 371 (06) : 507 - 518
  • [8] C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
    Richards, Anna
    van den Maagdenberg, Arn M. J. M.
    Jen, Joanna C.
    Kavanagh, David
    Bertram, Paula
    Spitzer, Dirk
    Liszewski, M. Kathryn
    Barilla-LaBarca, Maria-Louise
    Terwindt, Gisela M.
    Kasai, Yumi
    McLellan, Mike
    Grand, Mark Gilbert
    Vanmolkot, Kaate R. J.
    de Vries, Boukje
    Wan, Jijun
    Kane, Michael J.
    Mamsa, Hafsa
    Schaefer, Ruth
    Stam, Anine H.
    Haan, Joost
    Paulus, T. V. M. de Jong
    Storimans, Caroline W.
    van Schooneveld, Mary J.
    Oosterhuis, Jendo A.
    Gschwendter, Andreas
    Dichgans, Martin
    Kotschet, Katya E.
    Hodgkinson, Suzanne
    Hardy, Todd A.
    Delatycki, Martin B.
    Hajj-Ali, Rula A.
    Kothari, Parul H.
    Nelson, Stanley F.
    Frants, Rune R.
    Baloh, Robert W.
    Ferrari, Michel D.
    Atkinson, John P.
    [J]. NATURE GENETICS, 2007, 39 (09) : 1068 - 1070
  • [9] Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173
    Seo, Jieun
    Kang, Jung-Ah
    Suh, Dong In
    Park, Eun-Byeol
    Lee, Cho-Rong
    Choi, Sun Ah
    Kim, Soo Yeon
    Kim, Yeji
    Park, Sang-Heon
    Ye, Michael
    Kwon, Soon-Hak
    Park, June Dong
    Lim, Byung Chan
    Lee, Dong Hun
    Kang, Suk-Jo
    Choi, Murim
    Park, Sung-Gyoo
    Chae, Jong-Hee
    [J]. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2017, 139 (04) : 1396 - 1399