An Update on Autoinflammatory Diseases: Interferonopathies

被引:47
作者
Davidson, Sophia [1 ]
Steiner, Annemarie [1 ,2 ]
Harapas, Cassandra R. [1 ]
Masters, Seth L. [1 ,2 ]
机构
[1] Walter & Eliza Hall Inst Med Res, Inflammat Div, Parkville, Vic 3052, Australia
[2] Univ Melbourne, Dept Med Biol, Parkville, Vic 3010, Australia
基金
澳大利亚国家健康与医学研究理事会; 英国医学研究理事会;
关键词
Autoinflammatory disease; Interferonopathy; IFNa; IFNb; IFNAR; SINGLETON-MERTEN SYNDROME; AICARDI-GOUTIERES-SYNDROME; OF-FUNCTION MUTATION; PROTEASOME SUBUNIT; MEDIATED AUTOINFLAMMATION; ENDOPLASMIC-RETICULUM; I INTERFERONS; COPA SYNDROME; DNASE-II; IFIH1;
D O I
10.1007/s11926-018-0748-y
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Purpose of Review Type I interferons (IFN alpha beta) induce the expression of hundreds of genes; thus, it is unsurprising that the initiation, transmission, and resolution of the IFN alpha beta-mediated immune response is tightly controlled. Mutations that alter nucleic acid processing and recognition, ablate IFN alpha beta-specific negative feedback mechanisms, or result in dysfunction of the proteasome system can all induce pathogenic IFN alpha beta signalling and are the focus of this review. Recent Findings Recent advances have delineated the precise cytoplasmic mechanisms that facilitate self-DNA to be recognised by cGAS and self-RNA to be recognised by RIG-I or MDA-5. This helps clarify interferonopathies associated with mutations in genes which code for DNase-II and ADAR1, among others. Similarly, loss of function mutations in Pol alpha, which lowers the presence of antagonistic ligands in the cytosol, or gain of function mutations in RIG-I and MDA-5, result in increased propensity for receptor activation and therefore IFN alpha beta induction. Summary As the aetiology of monogenic autoinflammatory diseases are uncovered, novel and sometimes unsuspected molecular interactions and signalling pathways are being defined. This review covers developments that have come to light over the past 3 years, with reference to the study of interferonopathies.
引用
收藏
页数:8
相关论文
共 51 条
[11]   Phenotypic overlap between infantile systemic lupus erythematosus and Aicardi-Goutieres syndrome [J].
De Laet, C ;
Goyens, P ;
Christophe, C ;
Ferster, A ;
Mascart, F ;
Dan, B .
NEUROPEDIATRICS, 2005, 36 (06) :399-402
[12]   Endoplasmic reticulum stress induces calcium-dependent permeability transition, mitochondrial outer membrane permeabilization and apoptosis [J].
Deniaud, A. ;
el dein, O. Sharaf ;
Maillier, E. ;
Poncet, D. ;
Kroemer, G. ;
Lemaire, C. ;
Brenner, C. .
ONCOGENE, 2008, 27 (03) :285-299
[13]   DNase II: genes, enzymes and function [J].
Evans, CJ ;
Aguilera, RJ .
GENE, 2003, 322 :1-15
[14]   Singleton-Merten syndrome: An autosomal dominant disorder with variable expression [J].
Feigenbaum, Annette ;
Mueller, Christine ;
Yale, Christopher ;
Kleinheinz, Johannes ;
Jezewski, Peter ;
Kehl, Hans Gerd ;
MacDougall, Mary ;
Rutsch, Frank ;
Hennekam, Raoul C. M. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161A (02) :360-370
[15]   STING regulates intracellular DNA-mediated, type I interferon-dependent innate immunity [J].
Ishikawa, Hiroki ;
Ma, Zhe ;
Barber, Glen N. .
NATURE, 2009, 461 (7265) :788-U40
[16]   Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome [J].
Jang, Mi-Ae ;
Kim, Eun Kyoung ;
Now, Hesung ;
Nguyen, Nhung T. H. ;
Kim, Woo-Jong ;
Yoo, Joo-Yeon ;
Lee, Jinhyuk ;
Jeong, Yun-Mi ;
Kim, Cheol-Hee ;
Kim, Ok-Hwa ;
Sohn, Seongsoo ;
Nam, Seong-Hyeuk ;
Hong, Yoojin ;
Lee, Yong Seok ;
Chang, Sung-A ;
Jang, Shin Yi ;
Kim, Jong-Won ;
Lee, Myung-Shik ;
Lim, So Young ;
Sung, Ki-Sun ;
Park, Ki-Tae ;
Kim, Byoung Joon ;
Lee, Joo-Heung ;
Kim, Duk-Kyung ;
Kee, Changwon ;
Ki, Chang-Seok .
AMERICAN JOURNAL OF HUMAN GENETICS, 2015, 96 (02) :266-274
[17]   COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA [J].
Jensson, Brynjar O. ;
Hansdottir, Sif ;
Arnadottir, Gudny A. ;
Sulem, Gerald ;
Kristjansson, Ragnar P. ;
Oddsson, Asmundur ;
Benonisdottir, Stefania ;
Jonsson, Hakon ;
Helgason, Agnar ;
Saemundsdottir, Jona ;
Magnusson, Olafur T. ;
Masson, Gisli ;
Thorisson, Gudmundur A. ;
Jonasdottir, Adalbjorg ;
Jonasdottir, Aslaug ;
Sigurdsson, Asgeir ;
Jonsdottir, Ingileif ;
Petursdottir, Vigdis ;
Kristinsson, Jon R. ;
Gudbjartsson, Daniel F. ;
Thorsteinsdottir, Unnur ;
Arngrimsson, Reynir ;
Sulem, Patrick ;
Gudmundsson, Gunnar ;
Stefansson, Kari .
BMC MEDICAL GENETICS, 2017, 18
[18]   Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations [J].
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 .
JOURNAL OF CLINICAL INVESTIGATION, 2014, 124 (12) :5516-5520
[19]  
Kawane K., 2014, COLD SPRING HARB PER, V6
[20]   Chronic polyarthritis caused by mammalian DNA that escapes from degradation in macrophages [J].
Kawane, Kohki ;
Ohtani, Mayumi ;
Miwa, Keiko ;
Kizawa, Takuji ;
Kanbara, Yoshiyuki ;
Yoshioka, Yoshichika ;
Yoshikawa, Hideki ;
Nagata, Shigekazu .
NATURE, 2006, 443 (7114) :998-1002