Type I interferonopathies: Mendelian type I interferon up-regulation

被引：150

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

来源：

CURRENT OPINION IN IMMUNOLOGY | 2015年 / 32卷

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

页码：7 / 12

页数：6

共 48 条

[1] TREX1 Deficiency Triggers Cell-Autonomous Immunity in a cGAS-Dependent Manner [J].

Ablasser, Andrea ;

Hemmerling, Inga ;

Schmid-Burgk, Jonathan L. ;

Behrendt, Rayk ;

Roers, Axel ;

Hornung, Veit .

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 [J].

AICARDI, J ;

GOUTIERES, F .

ANNALS OF NEUROLOGY, 1984, 15 (01) :49-54

[3]

Akwa Y, 1998, J IMMUNOL, V161, P5016

[4] STING-dependent cytosolic DNA sensing pathways [J].

Barber, Glen N. .

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 [J].

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. .

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 [J].

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. .

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 [J].

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 .

NATURE GENETICS, 2006, 38 (08) :917-920

[9] Type I interferonopathies: a novel set of inborn errors of immunity [J].

Crow, Yanick 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 [J].

Crow, Yanick J. ;

Rehwinkel, Jan .

HUMAN MOLECULAR GENETICS, 2009, 18 :R130-R136

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