{"id":"https://openalex.org/W4389366339","doi":"https://doi.org/10.1212/wnl.98.18_supplement.576","title":"A Tale of 2 Leukodystrophies in DOCK8 Deficiency, a Rare Primary Immunodeficiency (P17-1.002)","display_name":"A Tale of 2 Leukodystrophies in DOCK8 Deficiency, a Rare Primary Immunodeficiency (P17-1.002)","publication_year":2022,"publication_date":"2022-05-03","ids":{"openalex":"https://openalex.org/W4389366339","doi":"https://doi.org/10.1212/wnl.98.18_supplement.576"},"language":"en","primary_location":{"id":"doi:10.1212/wnl.98.18_supplement.576","doi":"https://doi.org/10.1212/wnl.98.18_supplement.576","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.98.18_supplement.576","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5032103323","display_name":"Ariane G. Soldatos","orcid":"https://orcid.org/0000-0003-3570-5230","observed_orcids":["https://orcid.org/0000-0003-3570-5230"]},"institutions":[{"id":"https://openalex.org/I4210110767","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ariane Soldatos","raw_affiliation_strings":["National Institute of Neurological Disorders and Stroke"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institute of Neurological Disorders and Stroke","institution_ids":["https://openalex.org/I4210110767"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020238334","display_name":"Irene C. M. Cortese","orcid":"https://orcid.org/0000-0001-9631-7181","observed_orcids":["https://orcid.org/0000-0001-9631-7181"]},"institutions":[{"id":"https://openalex.org/I4210110767","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Irene Cortese","raw_affiliation_strings":["National Institute of Neurological Disorders and Stroke"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institute of Neurological Disorders and Stroke","institution_ids":["https://openalex.org/I4210110767"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074238382","display_name":"Anita M. Fletcher","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210110767","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210110767"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Anita Fletcher","raw_affiliation_strings":["National Institute of Neurological Disorders and Stroke"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institute of Neurological Disorders and Stroke","institution_ids":["https://openalex.org/I4210110767"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104208883","display_name":"Corina Gonzalez","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Corina Gonzalez","raw_affiliation_strings":["National Cancer Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Cancer Institute","institution_ids":["https://openalex.org/I4210140884"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5063867007","display_name":"Alexandra F. Freeman","orcid":"https://orcid.org/0000-0001-7005-8345","observed_orcids":["https://orcid.org/0000-0001-7005-8345"]},"institutions":[{"id":"https://openalex.org/I4210134534","display_name":"National Institute of Allergy and Infectious Diseases","ror":"https://ror.org/043z4tv69","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210134534"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alexandra Freeman","raw_affiliation_strings":["National Institute of Allergy and Infectious Diseases"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institute of Allergy and Infectious Diseases","institution_ids":["https://openalex.org/I4210134534"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0956,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.36331252,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":96},"biblio":{"volume":"98","issue":"18_supplement","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.9994999766349792,"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/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.9994999766349792,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10031","display_name":"T-cell and B-cell Immunology","score":0.0,"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/dock8-deficiency","display_name":"DOCK8 deficiency","score":0.996999979019165},{"id":"https://openalex.org/keywords/leukodystrophy","display_name":"leukodystrophy","score":0.9129999876022339},{"id":"https://openalex.org/keywords/primary-immunodeficiency","display_name":"primary immunodeficiency","score":0.9570000171661377},{"id":"https://openalex.org/keywords/neuroinflammation","display_name":"neuroinflammation","score":0.9890000224113464}],"concepts":[{"id":"https://openalex.org/C2779242764","wikidata":"https://www.wikidata.org/wiki/Q129","display_name":"Thursday","level":2,"score":0.7782673835754395},{"id":"https://openalex.org/C2779019163","wikidata":"https://www.wikidata.org/wiki/Q3043160","display_name":"Primary immunodeficiency","level":3,"score":0.4904634654521942},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.44657862186431885},{"id":"https://openalex.org/C2777607303","wikidata":"https://www.wikidata.org/wiki/Q641307","display_name":"Immunodeficiency","level":3,"score":0.4247834086418152},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.32710087299346924},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.1412869393825531},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.11388981342315674},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.11244672536849976},{"id":"https://openalex.org/C27206212","wikidata":"https://www.wikidata.org/wiki/Q34178","display_name":"Theology","level":1,"score":0.07498937845230103},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.0},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1212/wnl.98.18_supplement.576","doi":"https://doi.org/10.1212/wnl.98.18_supplement.576","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.98.18_supplement.576","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"}],"best_oa_location":null,"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":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W7159966527","https://openalex.org/W2345099962","https://openalex.org/W7212127837","https://openalex.org/W1994992814","https://openalex.org/W2626877998","https://openalex.org/W1966252747","https://openalex.org/W7054792545","https://openalex.org/W2068203110","https://openalex.org/W7202392402","https://openalex.org/W2077901945"],"abstract_inverted_index":{"Objective:":[0],"Describe":[1],"two":[2,36,276],"cases":[3,277],"of":[4,59,66,278],"neuroinflammation":[5],"in":[6,111,300],"DOCK8":[7,10,39,54,176,279],"deficiency.":[8,55,177],"Background:":[9],"deficiency":[11,40,280],"is":[12],"a":[13,107],"genetic":[14,173],"combined":[15],"immunodeficiency.":[16],"It":[17],"has":[18,308,314,326,338,350,356],"infrequently":[19],"been":[20],"associated":[21],"with":[22,38,53,81,150,166,184,194,209,246,248,281,302],"systemic":[23],"autoimmunity":[24],"and":[25,41,75,83,153,170,219,287],"CNS":[26,295],"vasculitis":[27],"often":[28],"thought":[29],"to":[30,105,137,159,236,263,271,310,352,358],"be":[31,138],"infectious.":[32],"Design/Methods:":[33],"We":[34,274],"report":[35,275],"patients":[37,301],"inflammatory":[42],"brain":[43,86],"white":[44,115],"matter":[45,116],"disease.":[46],"Results:":[47],"Case":[48,161],"1:":[49],"9":[50,89,214],"yo":[51,90,164],"male":[52,165],"At":[56],"7.5":[57],"years":[58],"age,":[60],"he":[61,243],"had":[62,63,213],"an":[64,234,318,330,342],"episode":[65],"infectious":[67],"ADEM;":[68],"CSF":[69,126,212],"non-inflammatory":[70],"but":[71,199],"positive":[72,129,216],"for":[73,131,140,217],"EBV":[74,132],"CMV":[76],"PCR.":[77,133],"He":[78,122,134,147,157,178,253],"recovered":[79],"well":[80],"gancyclovir":[82],"steroids.":[84],"Follow-up":[85],"MRI":[87,101,155,201],"at":[88],"showed":[91],"some":[92,208,220],"gliosis.":[93],"The":[94],"patient":[95],"was":[96,123,127,135,148,244],"incidentally":[97],"found":[98,136],"on":[99,223],"sinus":[100],"2":[102],"months":[103],"later":[104],"have":[106],"contrast":[108,210],"enhancing":[109],"lesion":[110],"the":[112,119,154,288],"right":[113],"frontal":[114],"extending":[117],"across":[118],"corpus":[120],"callosum.":[121],"neurologically":[124],"asymptomatic.":[125],"acellular,":[128],"only":[130],"seropositive":[139],"MOG-immunoglobulin":[141],"G":[142],"(IgG)":[143],"by":[144],"cell-based":[145],"assay.":[146],"treated":[149,245],"ivIG":[151],"monthly":[152],"improved.":[156],"proceeded":[158],"HSCT.":[160,272],"2:":[162],"21":[163],"recurrent":[167,293],"sinopulmonary":[168],"infections":[169],"warts":[171],"whose":[172],"sequencing":[174],"revealed":[175,190,202],"developed":[179],"erythroderma;":[180],"skin":[181],"biopsy":[182,227],"consistent":[183,193],"cytotoxic":[185],"T-cell":[186],"lymphoma":[187],"(CTCL).":[188],"PET":[189],"generalized":[191],"lymphadenopathy":[192],"Sezary":[195],"syndrome.":[196],"Neurologically":[197],"asymptomatic":[198],"screening":[200],"diffuse":[203],"punctate":[204],"FLAIR":[205],"hyperintense":[206],"lesions,":[207],"enhancement.":[211],"WBCs,":[215],"JC-virus":[218],"atypical":[221],"T-cells":[222,257],"flow":[224],"cytometry.":[225],"Brain":[226],"confirmed":[228],"PML":[229,286],"without":[230],"lymphomatous":[231],"involvement.":[232],"In":[233],"attempt":[235],"prevent":[237],"further":[238],"immunosuppression":[239],"from":[240,259,285,290,321,333,345],"standard":[241],"chemotherapy,":[242],"bexarotene":[247],"very":[249],"good":[250],"partial":[251],"response.":[252],"received":[254,315,327,339],"JCV-viral":[255],"specific":[256],"engineered":[258],"his":[260,265],"matched-donor":[261],"brother":[262],"debulk":[264],"JC":[266],"viral":[267],"load":[268],"before":[269],"proceeding":[270],"Conclusions:":[273],"neuroinflammatory":[282],"demyelination:":[283],"one":[284],"other":[289],"MOG":[291],"antibody":[292],"ADEM.":[294],"autoimmune":[296],"diseases":[297],"can":[298],"present":[299],"primary":[303],"immunodeficiencies.":[304],"Disclosure:":[305],"Dr.":[306,312,324,336,348],"Soldatos":[307],"nothing":[309,351,357],"disclose.":[311,353,359],"Cortese":[313,325,337],"stock":[316,328,340],"or":[317,329,341],"ownership":[319,331,343],"interest":[320,332,344],"Keires,":[322],"AG.":[323,335],"Nouscom,":[334],"PDC":[346],"Pharma.":[347],"Fletcher":[349],"Alexandra":[354],"Freeman":[355]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1}],"updated_date":"2026-10-27T15:51:10.671819","created_date":"2023-12-07T00:00:00"}