Type I interferonopathies: mendelian type I interferon up-regulation.

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.

[1]  C. Janeway.  Approaching the asymptote? Evolution and revolution in immunology. , 1989, Cold Spring Harbor symposia on quantitative biology.

[2]  G. Barber.  STING-dependent cytosolic DNA sensing pathways. , 2014, Trends in immunology.

[3]  Y. Crow.  Type I interferonopathies: a novel set of inborn errors of immunity , 2011, Annals of the New York Academy of Sciences.

[4]  B. Sobhian,et al.  SAMHD1 is the dendritic- and myeloid-cell-specific HIV-1 restriction factor counteracted by Vpx , 2011, Nature.

[5]  A. Vanderver,et al.  Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study , 2013, The Lancet Neurology.

[6]  A. Munnich,et al.  A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1 , 2013, Journal of Medical Genetics.

[7]  Y. Crow,et al.  Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia , 2014, Neuropediatrics.

[8]  P. Lebon,et al.  Interferon and Aicardi-Goutières syndrome. , 2002, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[9]  Zhijian J. Chen,et al.  Cyclic GMP-AMP Is an Endogenous Second Messenger in Innate Immune Signaling by Cytosolic DNA , 2013, Science.

[10]  Martin A. M. Reijns,et al.  Enzymatic Removal of Ribonucleotides from DNA Is Essential for Mammalian Genome Integrity and Development , 2012, Cell.

[11]  G. Hartmann,et al.  Oxidative damage of DNA confers resistance to cytosolic nuclease TREX1 degradation and potentiates STING-dependent immune sensing. , 2013, Immunity.

[12]  Y. Crow.  Aicardi-Goutières syndrome. , 2013, Handbook of clinical neurology.

[13]  M. C. Cardoso,et al.  Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome. , 2014, Human molecular genetics.

[14]  R. Naumann,et al.  Mammalian RNase H2 removes ribonucleotides from DNA to maintain genome integrity , 2012, The Journal of experimental medicine.

[15]  Jonathan C. Fuller,et al.  Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response , 2009, Nature Genetics.

[16]  D. Stetson,et al.  The enemy within: endogenous retroelements and autoimmune disease , 2014, Nature Immunology.

[17]  D. Stetson,et al.  Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease. , 2012, Immunity.

[18]  T. Heidmann,et al.  Trex1 Prevents Cell-Intrinsic Initiation of Autoimmunity , 2008, Cell.

[19]  John H Livingston,et al.  Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature , 2012, Nature Genetics.

[20]  Ha Won Kim,et al.  Activated STING in a vascular and pulmonary syndrome. , 2014, The New England journal of medicine.

[21]  L. Lagae,et al.  Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling , 2014, Nature Genetics.

[22]  M. Wong,et al.  Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy , 2013, Lupus.

[23]  Y. Crow,et al.  Striking intrafamilial phenotypic variability in Aicardi–Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C , 2013, American journal of medical genetics. Part A.

[24]  F. Bloom,et al.  Transgenic expression of IFN-alpha in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration. , 1998, Journal of immunology.

[25]  Jonathan L. Schmid-Burgk,et al.  TREX1 Deficiency Triggers Cell-Autonomous Immunity in a cGAS-Dependent Manner , 2014, The Journal of Immunology.

[26]  D. Barnes,et al.  Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus , 2006, Nature Genetics.

[27]  C. Liu,et al.  C1q Deficiency Leads to the Defective Suppression of IFN-α in Response to Nucleoprotein Containing Immune Complexes , 2010, The Journal of Immunology.

[28]  A. Notkins,et al.  Immune interferon in the circulation of patients with autoimmune disease. , 1979, The New England journal of medicine.

[29]  Zhijian J. Chen,et al.  Cyclic GMP-AMP Synthase Is a Cytosolic DNA Sensor That Activates the Type I Interferon Pathway , 2013, Science.

[30]  Daehyun Baek,et al.  The ribonuclease activity of SAMHD1 is required for HIV-1 restriction , 2014, Nature Medicine.

[31]  M. Washburn,et al.  Vpx relieves inhibition of HIV-1 infection of macrophages mediated by the SAMHD1 protein , 2011, Nature.

[32]  J. Lieberman,et al.  The cytosolic exonuclease TREX1 inhibits the innate immune response to HIV-1 , 2010, Nature Immunology.

[33]  D. Barnes,et al.  Trex1 Exonuclease Degrades ssDNA to Prevent Chronic Checkpoint Activation and Autoimmune Disease , 2007, Cell.

[34]  A. Paller,et al.  Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. , 2012, Arthritis and rheumatism.

[35]  C. Ponting,et al.  Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection , 2006, Nature Genetics.

[36]  L. Rönnblom,et al.  C1q inhibits immune complex-induced interferon-alpha production in plasmacytoid dendritic cells: a novel link between C1q deficiency and systemic lupus erythematosus pathogenesis. , 2009, Arthritis and rheumatism.

[37]  O. Ohara,et al.  Aicardi-Goutières syndrome is caused by IFIH1 mutations. , 2014, American journal of human genetics.

[38]  Y. Crow,et al.  Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. , 2009, Human molecular genetics.

[39]  Martin A. M. Reijns,et al.  RNA:DNA hybrids are a novel molecular pattern sensed by TLR9 , 2014, The EMBO journal.

[40]  D. Woodrow,et al.  INTERFERON‐INDUCED DISEASE IN MICE AND RATS * , 1980, Annals of the New York Academy of Sciences.

[41]  C. Reis e Sousa,et al.  Cytosolic Sensing of Viruses , 2013, Immunity.

[42]  J. Aicardi,et al.  Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy , 1988, Journal of the Neurological Sciences.

[43]  A. Janecke,et al.  Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity , 2011, Nature Genetics.

[44]  J. Aicardi,et al.  A Progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis , 1984, Annals of neurology.

[45]  A. Fischer,et al.  Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis , 2011, The Journal of experimental medicine.

[46]  F. Rieux-Laucat,et al.  Tartrate resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature , 2010, Nature Genetics.

[47]  P. Kloetzel,et al.  Immunoproteasomes Preserve Protein Homeostasis upon Interferon-Induced Oxidative Stress , 2010, Cell.