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

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

[21] Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
Lausch, Ekkehart
Janecke, Andreas
Bros, Matthias
Trojandt, Stefanie
Alanay, Yasemin
De Laet, Corinne
Huebner, Christian A.
Meinecke, Peter
Nishimura, Gen
Matsuo, Mari
Hirano, Yoshiko
Tenoutasse, Sylvie
Kiss, Andrea
Machado Rosa, Rafael Fabiano
Unger, Sharon L.
Renella, Raffaele
Bonafe, Luisa
Spranger, Juergen
Unger, Sheila
Zabel, Bernhard
Superti-Furga, Andrea
[J]. NATURE GENETICS, 2011, 43 (02) : 132 - U79
[22] INTRATHECAL SYNTHESIS OF INTERFERON-ALPHA IN INFANTS WITH PROGRESSIVE FAMILIAL ENCEPHALOPATHY
LEBON, P
BADOUAL, J
PONSOT, G
GOUTIERES, F
HEMEURYCUKIER, F
AICARDI, J
[J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1988, 84 (2-3) : 201 - 208
[23] Lebon P, 2002, EUR J PAEDIAT NEU SA, V6, pA55
[24] Lebon P, 2002, EUR J PAEDIAT NEU SA, V6, pA77
[25] Lebon Pierre, 2002, Eur J Paediatr Neurol, V6 Suppl A, pA47, DOI 10.1053/ejpn.2002.0574
[26] Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
Liu, Luyan
Okada, Satoshi
Kong, Xiao-Fei
Kreins, Alexandra Y.
Cypowyj, Sophie
Abhyankar, Avinash
Toubiana, Julie
Itan, Yuval
Audry, Magali
Nitschke, Patrick
Masson, Cecile
Toth, Beata
Flatot, Jerome
Migaud, Melanie
Chrabieh, Maya
Kochetkov, Tatiana
Bolze, Alexandre
Borghesi, Alessandro
Toulon, Antoine
Hiller, Julia
Eyerich, Stefanie
Eyerich, Kilian
Gulacsy, Vera
Chernyshova, Ludmyla
Chernyshov, Viktor
Bondarenko, Anastasia
Cortes Grimaldo, Rosa Maria
Blancas-Galicia, Lizbeth
Madrigal Beas, Ileana Maria
Roesler, Joachim
Magdorf, Klaus
Engelhard, Dan
Thumerelle, Caroline
Burgel, Pierre-Regis
Hoernes, Miriam
Drexel, Barbara
Seger, Reinhard
Kusuma, Theresia
Jansson, Annette F.
Sawalle-Belohradsky, Julie
Belohradsky, Bernd
Jouanguy, Emmanuelle
Bustamante, Jacinta
Bue, Melanie
Karin, Nathan
Wildbaum, Gizi
Bodemer, Christine
Lortholary, Olivier
Fischer, Alain
Blanche, Stephane
[J]. JOURNAL OF EXPERIMENTAL MEDICINE, 2011, 208 (08) : 1635 - 1648
[27] 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
[28] Mutations in proteasome subunit ß type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity
Liu, Yin
Ramot, Yuval
Torrelo, Antonio
Paller, Amy S.
Si, Nuo
Babay, Sofia
Kim, Peter W.
Sheikh, Afzal
Lee, Chyi-Chia Richard
Chen, Yongqing
Vera, Angel
Zhang, Xue
Goldbach-Mansky, Raphaela
Zlotogorski, Abraham
[J]. ARTHRITIS AND RHEUMATISM, 2012, 64 (03): : 895 - 907
[29] A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1
Livingston, John H.
Lin, Jean-Pierre
Dale, Russell C.
Gill, Deepak
Brogan, Paul
Munnich, Arnold
Kurian, Manju A.
Gonzalez-Martinez, Victoria
De Goede, Christian G. E. L.
Falconer, Alastair
Forte, Gabriella
Jenkinson, Emma M.
Kasher, Paul R.
Szynkiewicz, Marcin
Rice, Gillian I.
Crow, Yanick J.
[J]. JOURNAL OF MEDICAL GENETICS, 2014, 51 (02) : 76 - 82
[30] C1q Inhibits Immune Complex-Induced Interferon-α Production in Plasmacytoid Dendritic Cells A Novel Link Between C1q Deficiency and Systemic Lupus Erythematosus Pathogenesis
Lood, Christian
Gullstrand, Birgitta
Truedsson, Lennart
Olin, Anders I.
Alm, Gunnar V.
Ronnblom, Lars
Sturfelt, Gunnar
Eloranta, Maija-Leena
Bengtsson, Anders A.
[J]. ARTHRITIS AND RHEUMATISM, 2009, 60 (10): : 3081 - 3090

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