Type I interferonopathies: Mendelian type I interferon up-regulation

被引:148
作者
Crow, Yanick J. [1 ,2 ,3 ]
机构
[1] INSERM, Lab Neurogenet & Neuroinflammat, UMR 1163, Paris, France
[2] Univ Paris 04, Sorbonne Paris Cite, Inst Imagine, Paris, France
[3] Univ Manchester, Manchester Acad Hlth Sci Ctr, Fac Med & Human Sci, Manchester Ctr Genom Med,Inst Human Dev, Manchester M13 9PL, Lancs, England
基金
欧洲研究理事会;
关键词
AICARDI-GOUTIERES-SYNDROME; PROGRESSIVE FAMILIAL ENCEPHALOPATHY; SYSTEMIC-LUPUS-ERYTHEMATOSUS; INNATE IMMUNE-RESPONSE; CYCLIC GMP-AMP; AUTOIMMUNE-DISEASE; C1Q DEFICIENCY; CYTOSOLIC DNA; GENOME INTEGRITY; IFN-ALPHA;
D O I
10.1016/j.coi.2014.10.005
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
The concept of grouping Mendelian disorders associated with an up-regulation of type I interferon has only recently been suggested. Here we discuss the progress being made in the delineation and understanding of this novel set of inborn errors of immunity, the human type I interferonopathies.
引用
收藏
页码:7 / 12
页数:6
相关论文
共 48 条
  • [1] TREX1 Deficiency Triggers Cell-Autonomous Immunity in a cGAS-Dependent Manner
    Ablasser, Andrea
    Hemmerling, Inga
    Schmid-Burgk, Jonathan L.
    Behrendt, Rayk
    Roers, Axel
    Hornung, Veit
    [J]. JOURNAL OF IMMUNOLOGY, 2014, 192 (12) : 5993 - 5997
  • [2] A PROGRESSIVE FAMILIAL ENCEPHALOPATHY IN INFANCY WITH CALCIFICATIONS OF THE BASAL GANGLIA AND CHRONIC CEREBROSPINAL-FLUID LYMPHOCYTOSIS
    AICARDI, J
    GOUTIERES, F
    [J]. ANNALS OF NEUROLOGY, 1984, 15 (01) : 49 - 54
  • [3] Akwa Y, 1998, J IMMUNOL, V161, P5016
  • [4] STING-dependent cytosolic DNA sensing pathways
    Barber, Glen N.
    [J]. TRENDS IN IMMUNOLOGY, 2014, 35 (02) : 88 - 93
  • [5] Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature
    Briggs, Tracy A.
    Rice, Gillian I.
    Daly, Sarah
    Urquhart, Jill
    Gornall, Hannah
    Bader-Meunier, Brigitte
    Baskar, Kannan
    Baskar, Shankar
    Baudouin, Veronique
    Beresford, Michael W.
    Black, Graeme C. M.
    Dearman, Rebecca J.
    de Zegher, Francis
    Foster, Emily S.
    Frances, Camille
    Hayman, Alison R.
    Hilton, Emma
    Job-Deslandre, Chantal
    Kulkarni, Muralidhar L.
    Le Merrer, Martine
    Linglart, Agnes
    Lovell, Simon C.
    Maurer, Kathrin
    Musset, Lucile
    Navarro, Vincent
    Picard, Capucine
    Puel, Anne
    Rieux-Laucat, Frederic
    Roifman, Chaim M.
    Scholl-Buergi, Sabine
    Smith, Nigel
    Szynkiewicz, Marcin
    Wiedeman, Alice
    Wouters, Carine
    Zeef, Leo A. H.
    Casanova, Jean-Laurent
    Elkon, Keith B.
    Janckila, Anthony
    Lebon, Pierre
    Crow, Yanick J.
    [J]. NATURE GENETICS, 2011, 43 (02) : 127 - U71
  • [6] Crow Y.J., 2014, Neuropediatrics
  • [7] Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection
    Crow, Yanick J.
    Leitch, Andrea
    Hayward, Bruce E.
    Garner, Anna
    Parmar, Rekha
    Griffith, Elen
    Ali, Manir
    Semple, Colin
    Aicardi, Jean
    Babul-Hirji, Riyana
    Baumann, Clarisse
    Baxter, Peter
    Bertini, Enrico
    Chandler, Kate E.
    Chitayat, David
    Cau, Daniel
    Dery, Catherine
    Fazzi, Elisa
    Goizet, Cyril
    King, Mary D.
    Klepper, Joerg
    Lacombe, Didier
    Lanzi, Giovanni
    Lyall, Hermione
    Martinez-Frias, Maria Luisa
    Mathieu, Michele
    McKeown, Carole
    Monier, Anne
    Oade, Yvette
    Quarrell, Oliver W.
    Rittey, Christopher D.
    Rogers, R. Curtis
    Sanchis, Amparo
    Stephenson, John B. P.
    Tacke, Uta
    Till, Marianne
    Tolmie, John L.
    Tomlin, Pam
    Voit, Thomas
    Weschke, Bernhard
    Woods, C. Geoffrey
    Lebon, Pierre
    Bonthron, David T.
    Ponting, Chris P.
    Jackson, Andrew P.
    [J]. NATURE GENETICS, 2006, 38 (08) : 910 - 916
  • [8] Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus
    Crow, Yanick J.
    Hayward, Bruce E.
    Parmar, Rekha
    Robins, Peter
    Leitch, Andrea
    Ali, Manir
    Black, Deborah N.
    van Bokhoven, Hans
    Brunner, Han G.
    Hamel, Ben C.
    Corry, Peter C.
    Cowan, Frances M.
    Frints, Suzanne G.
    Klepper, Joerg
    Livingston, John H.
    Lynch, Sally Ann
    Massey, Roger F.
    Meritet, Jean Francois
    Michaud, Jacques L.
    Ponsot, Gerard
    Voit, Thomas
    Lebon, Pierre
    Bonthron, David T.
    Jackson, Andrew P.
    Barnes, Deborah E.
    Lindahl, Tomas
    [J]. NATURE GENETICS, 2006, 38 (08) : 917 - 920
  • [9] Type I interferonopathies: a novel set of inborn errors of immunity
    Crow, Yanick J.
    [J]. YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY I, 2011, 1238 : 91 - 98
  • [10] Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity
    Crow, Yanick J.
    Rehwinkel, Jan
    [J]. HUMAN MOLECULAR GENETICS, 2009, 18 : R130 - R136