{"id":"https://openalex.org/W2931666295","doi":"https://doi.org/10.1177/1093526619837797","title":"Neuropathological Findings in a Case of IFIH1 -Related Aicardi\u2013Gouti\u00e8res Syndrome","display_name":"Neuropathological Findings in a Case of IFIH1 -Related Aicardi\u2013Gouti\u00e8res Syndrome","publication_year":2019,"publication_date":"2019-04-05","ids":{"openalex":"https://openalex.org/W2931666295","doi":"https://doi.org/10.1177/1093526619837797","mag":"2931666295","pmid":"https://pubmed.ncbi.nlm.nih.gov/30952201","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/8130830"},"language":"en","primary_location":{"id":"doi:10.1177/1093526619837797","doi":"https://doi.org/10.1177/1093526619837797","is_oa":false,"landing_page_url":"https://doi.org/10.1177/1093526619837797","pdf_url":null,"source":{"id":"https://openalex.org/S125957187","display_name":"Pediatric and Developmental Pathology","issn_l":"1093-5266","issn":["1093-5266","1615-5742"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320017","host_organization_name":"SAGE Publishing","host_organization_lineage":["https://openalex.org/P4310320017"],"host_organization_lineage_names":["SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric and Developmental Pathology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8130830","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5017140884","display_name":"Ahmed Gilani","orcid":"https://orcid.org/0000-0003-2215-2892","observed_orcids":["https://orcid.org/0000-0003-2215-2892"]},"institutions":[{"id":"https://openalex.org/I4210096275","display_name":"Children's Hospital Colorado","ror":"https://ror.org/00mj9k629","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210096275"]},{"id":"https://openalex.org/I51713134","display_name":"University of Colorado Anschutz","ror":"https://ror.org/03wmf1y16","country_code":"US","type":"education","lineage":["https://openalex.org/I51713134"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Ahmed Gilani","raw_affiliation_strings":["Department of Pathology, Children\u2019s Hospital Colorado, University of Colorado, Aurora, Colorado"],"raw_orcid":"https://orcid.org/0000-0003-2215-2892","affiliations":[{"raw_affiliation_string":"Department of Pathology, Children\u2019s Hospital Colorado, University of Colorado, Aurora, Colorado","institution_ids":["https://openalex.org/I4210096275","https://openalex.org/I51713134"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004600852","display_name":"Laura Ann Adang","orcid":"https://orcid.org/0000-0002-8454-1116","observed_orcids":["https://orcid.org/0000-0002-8454-1116"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Laura A Adang","raw_affiliation_strings":["Division of Neurology, Children\u2019s Hospital of Philadelphia, Philadelphia, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Children\u2019s Hospital of Philadelphia, Philadelphia, Pennsylvania","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013089390","display_name":"Adeline L. Vanderver","orcid":"https://orcid.org/0000-0002-6290-6751","observed_orcids":["https://orcid.org/0000-0002-6290-6751"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Adeline Vanderver","raw_affiliation_strings":["Division of Neurology, Children\u2019s Hospital of Philadelphia, Philadelphia, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Children\u2019s Hospital of Philadelphia, Philadelphia, Pennsylvania","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005873373","display_name":"Abigail R. Collins","orcid":"https://orcid.org/0000-0001-8073-1943","observed_orcids":["https://orcid.org/0000-0001-8073-1943","https://orcid.org/0009-0008-1863-0525"]},"institutions":[{"id":"https://openalex.org/I4210096275","display_name":"Children's Hospital Colorado","ror":"https://ror.org/00mj9k629","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210096275"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Abigail Collins","raw_affiliation_strings":["Division of Pediatric Neurology, Colorado Children\u2019s Hospital, Aurora, Colorado"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Neurology, Colorado Children\u2019s Hospital, Aurora, Colorado","institution_ids":["https://openalex.org/I4210096275"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5103730878","display_name":"BK Kleinschmidt-DeMasters","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I51713134","display_name":"University of Colorado Anschutz","ror":"https://ror.org/03wmf1y16","country_code":"US","type":"education","lineage":["https://openalex.org/I51713134"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"BK Kleinschmidt-DeMasters","raw_affiliation_strings":["Departments of Pathology, Neurology, Neurosurgery, University of Colorado, Aurora, Colorado"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pathology, Neurology, Neurosurgery, University of Colorado, Aurora, Colorado","institution_ids":["https://openalex.org/I51713134"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5017140884"],"corresponding_institution_ids":["https://openalex.org/I4210096275","https://openalex.org/I51713134"],"apc_list":{"value":3400,"currency":"USD","value_usd":3400},"apc_paid":null,"fwci":0.5982,"has_fulltext":false,"cited_by_count":14,"citation_normalized_percentile":{"value":0.61755425,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"22","issue":"6","first_page":"566","last_page":"570"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11668","display_name":"interferon and immune responses","score":0.6991999745368958,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11668","display_name":"interferon and immune responses","score":0.6991999745368958,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T13481","display_name":"Neurological diseases and metabolism","score":0.10499999672174454,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.031700000166893005,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/aicardi-goutieres-syndrome","display_name":"Aicardi-Gouti\u00e8res syndrome","score":0.9129999876022339},{"id":"https://openalex.org/keywords/mda5","display_name":"MDA5","score":0.843999981880188},{"id":"https://openalex.org/keywords/brain-calcification","display_name":"cerebral calcification","score":0.6489999890327454},{"id":"https://openalex.org/keywords/demyelination","display_name":"demyelination","score":0.7570000290870667},{"id":"https://openalex.org/keywords/brain-atrophy","display_name":"brain atrophy","score":0.9340000152587891},{"id":"https://openalex.org/keywords/microcephaly","display_name":"microcephaly","score":0.8050000071525574},{"id":"https://openalex.org/keywords/interferonopathies","display_name":"interferonopathies","score":0.7250000238418579},{"id":"https://openalex.org/keywords/pulmonary-embolism","display_name":"pulmonary embolism","score":0.671999990940094}],"concepts":[{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4631148874759674},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4237786829471588},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.40170249342918396}],"mesh":[{"descriptor_ui":"D000072640","descriptor_name":"Interferon-Induced Helicase, IFIH1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000098","qualifier_name":"blood supply","is_major_topic":true},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008831","descriptor_name":"Microcephaly","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D008831","descriptor_name":"Microcephaly","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D008831","descriptor_name":"Microcephaly","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009421","descriptor_name":"Nervous System Malformations","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D009421","descriptor_name":"Nervous System Malformations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009421","descriptor_name":"Nervous System Malformations","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D017809","descriptor_name":"Fatal Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020274","descriptor_name":"Autoimmune Diseases of the Nervous System","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D020274","descriptor_name":"Autoimmune Diseases of the Nervous System","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020274","descriptor_name":"Autoimmune Diseases of the Nervous System","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D061205","descriptor_name":"Vascular Calcification","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D061205","descriptor_name":"Vascular Calcification","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D061205","descriptor_name":"Vascular Calcification","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1177/1093526619837797","doi":"https://doi.org/10.1177/1093526619837797","is_oa":false,"landing_page_url":"https://doi.org/10.1177/1093526619837797","pdf_url":null,"source":{"id":"https://openalex.org/S125957187","display_name":"Pediatric and Developmental Pathology","issn_l":"1093-5266","issn":["1093-5266","1615-5742"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320017","host_organization_name":"SAGE Publishing","host_organization_lineage":["https://openalex.org/P4310320017"],"host_organization_lineage_names":["SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric and Developmental Pathology","raw_type":"journal-article"},{"id":"pmid:30952201","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30952201","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","raw_type":"Case Reports"},{"id":"pmh:oai:pubmedcentral.nih.gov:8130830","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8130830","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Pediatr Dev Pathol","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:8130830","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8130830","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Pediatr Dev Pathol","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G9000906229","display_name":"Institutional Career Development Core","funder_award_id":"KL2TR001879","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337472","display_name":"National Center for Advancing Translational Sciences","ror":"https://ror.org/04pw6fb54"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":15,"referenced_works":["https://openalex.org/W1497089859","https://openalex.org/W1989032379","https://openalex.org/W1998075689","https://openalex.org/W2008580692","https://openalex.org/W2012584392","https://openalex.org/W2063675796","https://openalex.org/W2071556127","https://openalex.org/W2130449325","https://openalex.org/W2209597790","https://openalex.org/W2262748594","https://openalex.org/W2520285822","https://openalex.org/W2522784175","https://openalex.org/W2763970448","https://openalex.org/W2771689665","https://openalex.org/W2890290534"],"related_works":["https://openalex.org/W4396686161","https://openalex.org/W2996549446","https://openalex.org/W6903496926","https://openalex.org/W3030034227","https://openalex.org/W1991781195","https://openalex.org/W2553826064","https://openalex.org/W3044314628","https://openalex.org/W2129108599","https://openalex.org/W2061165234","https://openalex.org/W3097138378"],"abstract_inverted_index":{"Aicardi\u2013Gouti\u00e8res":[0],"syndrome":[1,6,19],"(AGS)":[2],"is":[3,20,101,242],"a":[4,70,87,93,102,243],"rare":[5,244],"characterized":[7],"by":[8],"calcification,":[9],"diffuse":[10],"demyelination,":[11],"and":[12,35,116,187,198,226,254,260],"variable":[13,215],"degree":[14],"of":[15,55,72,79,90,114,128,135,175,204,212,231,246],"brain":[16,154,218,247],"atrophy.":[17],"The":[18,99,119,210],"genetically":[21],"heterogeneous":[22],"with":[23,44,74,92,106,151,228],"mutations":[24,50],"in":[25,63,69,86,96,177,222],"7":[26],"genes,":[27],"including":[28],"TREX1,":[29],"RNASEH2A,":[30],"RNASEH2B,":[31],"RNASEH2C,":[32],"SAMHD1,":[33],"ADAR1,":[34],"IFIH1":[36,64,97,232],"(interferon-induced":[37],"helicase":[38],"c":[39],"domain-containing":[40],"protein":[41,233],"1)":[42],"associated":[43],"the":[45,53,58,126,133,195,199,229],"syndrome,":[46],"so":[47],"far.":[48],"These":[49],"lead":[51],"to":[52,111,139,165,167,194],"overproduction":[54],"\u03b1-interferon":[56],"within":[57],"central":[59,169],"nervous":[60,170],"system.":[61],"Mutations":[62],"have":[65],"been":[66],"recently":[67],"described":[68],"subset":[71],"AGS,":[73],"only":[75],"1":[76],"previous":[77],"report":[78,83],"neuropathological":[80,84],"findings.":[81],"We":[82],"findings":[85,221],"second":[88],"case":[89],"AGS":[91,241],"known":[94],"mutation":[95],"gene.":[98],"patient":[100,120],"16-year-old":[103],"adolescent":[104],"boy":[105],"early-onset":[107],"symptoms":[108],"that":[109,249],"progressed":[110],"profound":[112],"loss":[113],"cognitive":[115],"motor":[117],"functions.":[118],"experienced":[121],"sudden":[122],"cardiopulmonary":[123],"arrest":[124],"at":[125],"age":[127],"16":[129],"years.":[130],"At":[131],"autopsy,":[132],"cause":[134,245],"death":[136],"was":[137,214],"determined":[138],"be":[140],"pulmonary":[141],"thromboembolism.":[142],"Neuropathological":[143],"examination":[144,160,190],"revealed":[145,161],"microcephaly":[146],"(brain":[147],"weight:":[148],"916":[149],"g)":[150],"relatively":[152],"mild":[153],"atrophy":[155],"on":[156],"gross":[157],"examination.":[158],"Microscopic":[159],"multifocal":[162],"calcifications":[163,213,248],"limited":[164,193],"small":[166],"medium":[168],"system":[171],"arteries":[172],"(no":[173],"evidence":[174,203],"calcification":[176],"other":[178],"organs),":[179],"involving":[180],"bilateral":[181],"cerebral":[182],"cortex,":[183],"basal":[184],"ganglia,":[185],"thalamus,":[186],"cerebellum.":[188],"Ultrastructural":[189],"showed":[191],"Calcospherules":[192],"vessel":[196],"walls":[197],"perivasulcar":[200],"area":[201],"without":[202],"neuronal":[205],"ferrugination":[206],"or":[207],"tubuloreticular":[208],"bodies.":[209],"extent":[211,230],"across":[216],"different":[217],"regions,":[219],"resembling":[220],"previously":[223],"reported":[224],"cases":[225],"correlated":[227],"expression":[234],"(data":[235],"derived":[236],"from":[237],"Allen":[238],"Brain":[239],"Institute).":[240],"can":[250],"closely":[251],"mimic":[252],"congenital":[253],"neonatal":[255],"infections":[256],"such":[257],"as":[258],"Rubella":[259],"similar":[261],"infections.":[262]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2019-04-11T00:00:00"}
