Aicardi-Goutières syndrome: A monogenic type I interferonopathy
Aicardi-Goutières syndrome (AGS) is a rare monogenic autoimmune disease that primarily affects the brains of children patients. Its main clinical features include encephalatrophy, basal ganglia calcification, leukoencephalopathy, lymphocytosis and increased interferon-α (IFN-α) levels in the patient...
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| Veröffentlicht in: | Scandinavian journal of immunology 2023-10, Vol.98 (4), p.e13314-e13314 |
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| container_title | Scandinavian journal of immunology |
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| creator | Liu, Anran Ying, Songcheng |
| description | Aicardi-Goutières syndrome (AGS) is a rare monogenic autoimmune disease that primarily affects the brains of children patients. Its main clinical features include encephalatrophy, basal ganglia calcification, leukoencephalopathy, lymphocytosis and increased interferon-α (IFN-α) levels in the patient's cerebrospinal fluid (CSF) and serum. AGS may be caused by mutations in any one of nine genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1, LSM11 and RNU7-1) that result in accumulation of self-nucleic acids in the cytoplasm or aberrant sensing of self-nucleic acids. This triggers overproduction of type I interferons (IFNs) and subsequently causes AGS, the prototype of type I interferonopathies. This review describes the discovery history of AGS with various genotypes and provides the latest knowledge of clinical manifestations and causative genes of AGS. The relationship between AGS and type I interferonopathy and potential therapeutic methods for AGS are also discussed in this review. |
| doi_str_mv | 10.1111/sji.13314 |
| format | Article |
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Its main clinical features include encephalatrophy, basal ganglia calcification, leukoencephalopathy, lymphocytosis and increased interferon-α (IFN-α) levels in the patient's cerebrospinal fluid (CSF) and serum. AGS may be caused by mutations in any one of nine genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1, LSM11 and RNU7-1) that result in accumulation of self-nucleic acids in the cytoplasm or aberrant sensing of self-nucleic acids. This triggers overproduction of type I interferons (IFNs) and subsequently causes AGS, the prototype of type I interferonopathies. This review describes the discovery history of AGS with various genotypes and provides the latest knowledge of clinical manifestations and causative genes of AGS. The relationship between AGS and type I interferonopathy and potential therapeutic methods for AGS are also discussed in this review.</description><identifier>ISSN: 0300-9475</identifier><identifier>EISSN: 1365-3083</identifier><identifier>DOI: 10.1111/sji.13314</identifier><identifier>PMID: 37515439</identifier><language>eng</language><publisher>England: Wiley Subscription Services, Inc</publisher><subject>Autoimmune diseases ; Autoimmune Diseases of the Nervous System - genetics ; Basal ganglia ; Brain ; Calcification (ectopic) ; Cerebrospinal fluid ; Child ; Cytoplasm ; Genotypes ; Humans ; Interferon ; Interferon Type I - genetics ; Interferon-alpha - genetics ; Leukoencephalopathy ; Lymphocytosis ; Mutation ; Nervous System Malformations - genetics</subject><ispartof>Scandinavian journal of immunology, 2023-10, Vol.98 (4), p.e13314-e13314</ispartof><rights>2023 The Scandinavian Foundation for Immunology.</rights><rights>Copyright © 2023 The Scandinavian Foundation for Immunology</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c348t-d10d502ac88eb128f7ec99bc5d381896c490cfa34cf4a004bea96e7c2b015d6f3</citedby><cites>FETCH-LOGICAL-c348t-d10d502ac88eb128f7ec99bc5d381896c490cfa34cf4a004bea96e7c2b015d6f3</cites><orcidid>0000-0002-3446-4482</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/37515439$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Liu, Anran</creatorcontrib><creatorcontrib>Ying, Songcheng</creatorcontrib><title>Aicardi-Goutières syndrome: A monogenic type I interferonopathy</title><title>Scandinavian journal of immunology</title><addtitle>Scand J Immunol</addtitle><description>Aicardi-Goutières syndrome (AGS) is a rare monogenic autoimmune disease that primarily affects the brains of children patients. Its main clinical features include encephalatrophy, basal ganglia calcification, leukoencephalopathy, lymphocytosis and increased interferon-α (IFN-α) levels in the patient's cerebrospinal fluid (CSF) and serum. AGS may be caused by mutations in any one of nine genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1, LSM11 and RNU7-1) that result in accumulation of self-nucleic acids in the cytoplasm or aberrant sensing of self-nucleic acids. This triggers overproduction of type I interferons (IFNs) and subsequently causes AGS, the prototype of type I interferonopathies. This review describes the discovery history of AGS with various genotypes and provides the latest knowledge of clinical manifestations and causative genes of AGS. The relationship between AGS and type I interferonopathy and potential therapeutic methods for AGS are also discussed in this review.</description><subject>Autoimmune diseases</subject><subject>Autoimmune Diseases of the Nervous System - genetics</subject><subject>Basal ganglia</subject><subject>Brain</subject><subject>Calcification (ectopic)</subject><subject>Cerebrospinal fluid</subject><subject>Child</subject><subject>Cytoplasm</subject><subject>Genotypes</subject><subject>Humans</subject><subject>Interferon</subject><subject>Interferon Type I - genetics</subject><subject>Interferon-alpha - genetics</subject><subject>Leukoencephalopathy</subject><subject>Lymphocytosis</subject><subject>Mutation</subject><subject>Nervous System Malformations - genetics</subject><issn>0300-9475</issn><issn>1365-3083</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpd0LFOwzAQBmALgWgpDLwAisQCQ4qdsxObiaqCUqkSC8yR41zAVRMXOxnyRrwHL0ZKgYFbTjp9-nX6CTlndMqGuQlrO2UAjB-QMYNUxEAlHJIxBUpjxTMxIichrCllkGRwTEaQCSY4qDG5m1mjfWnjheta-_nhMUShb0rvaryNZlHtGveKjTVR228xWka2adFX6If7Vrdv_Sk5qvQm4NnPnpCXh_vn-WO8elos57NVbIDLNi4ZLQVNtJESC5bIKkOjVGFECZJJlRquqKk0cFNxTSkvUKsUM5MUlIkyrWBCrva5W-_eOwxtXttgcLPRDbou5IkUnCepBDrQy3907TrfDN8NKmVKpULt1PVeGe9C8FjlW29r7fuc0XxXaz7Umn_XOtiLn8SuqLH8k789whewtHKH</recordid><startdate>202310</startdate><enddate>202310</enddate><creator>Liu, Anran</creator><creator>Ying, Songcheng</creator><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7QR</scope><scope>7T5</scope><scope>7TK</scope><scope>7U9</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>K9.</scope><scope>M7N</scope><scope>NAPCQ</scope><scope>P64</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-3446-4482</orcidid></search><sort><creationdate>202310</creationdate><title>Aicardi-Goutières syndrome: A monogenic type I interferonopathy</title><author>Liu, Anran ; Ying, Songcheng</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c348t-d10d502ac88eb128f7ec99bc5d381896c490cfa34cf4a004bea96e7c2b015d6f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Autoimmune diseases</topic><topic>Autoimmune Diseases of the Nervous System - genetics</topic><topic>Basal ganglia</topic><topic>Brain</topic><topic>Calcification (ectopic)</topic><topic>Cerebrospinal fluid</topic><topic>Child</topic><topic>Cytoplasm</topic><topic>Genotypes</topic><topic>Humans</topic><topic>Interferon</topic><topic>Interferon Type I - genetics</topic><topic>Interferon-alpha - genetics</topic><topic>Leukoencephalopathy</topic><topic>Lymphocytosis</topic><topic>Mutation</topic><topic>Nervous System Malformations - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Liu, Anran</creatorcontrib><creatorcontrib>Ying, Songcheng</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Scandinavian journal of immunology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Liu, Anran</au><au>Ying, Songcheng</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Aicardi-Goutières syndrome: A monogenic type I interferonopathy</atitle><jtitle>Scandinavian journal of immunology</jtitle><addtitle>Scand J Immunol</addtitle><date>2023-10</date><risdate>2023</risdate><volume>98</volume><issue>4</issue><spage>e13314</spage><epage>e13314</epage><pages>e13314-e13314</pages><issn>0300-9475</issn><eissn>1365-3083</eissn><abstract>Aicardi-Goutières syndrome (AGS) is a rare monogenic autoimmune disease that primarily affects the brains of children patients. Its main clinical features include encephalatrophy, basal ganglia calcification, leukoencephalopathy, lymphocytosis and increased interferon-α (IFN-α) levels in the patient's cerebrospinal fluid (CSF) and serum. AGS may be caused by mutations in any one of nine genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1, LSM11 and RNU7-1) that result in accumulation of self-nucleic acids in the cytoplasm or aberrant sensing of self-nucleic acids. This triggers overproduction of type I interferons (IFNs) and subsequently causes AGS, the prototype of type I interferonopathies. This review describes the discovery history of AGS with various genotypes and provides the latest knowledge of clinical manifestations and causative genes of AGS. The relationship between AGS and type I interferonopathy and potential therapeutic methods for AGS are also discussed in this review.</abstract><cop>England</cop><pub>Wiley Subscription Services, Inc</pub><pmid>37515439</pmid><doi>10.1111/sji.13314</doi><orcidid>https://orcid.org/0000-0002-3446-4482</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Autoimmune diseases Autoimmune Diseases of the Nervous System - genetics Basal ganglia Brain Calcification (ectopic) Cerebrospinal fluid Child Cytoplasm Genotypes Humans Interferon Interferon Type I - genetics Interferon-alpha - genetics Leukoencephalopathy Lymphocytosis Mutation Nervous System Malformations - genetics |
| title | Aicardi-Goutières syndrome: A monogenic type I interferonopathy |
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