{"id":"https://openalex.org/W2025768024","doi":"https://doi.org/10.1055/s-2000-7492","title":"Familial Systemic Lupus Erythematosus and Congenital Infection-Like Syndrome","display_name":"Familial Systemic Lupus Erythematosus and Congenital Infection-Like Syndrome","publication_year":2000,"publication_date":"2000-06-01","ids":{"openalex":"https://openalex.org/W2025768024","doi":"https://doi.org/10.1055/s-2000-7492","mag":"2025768024","pmid":"https://pubmed.ncbi.nlm.nih.gov/10963105"},"language":"en","primary_location":{"id":"doi:10.1055/s-2000-7492","doi":"https://doi.org/10.1055/s-2000-7492","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-2000-7492","pdf_url":null,"source":{"id":"https://openalex.org/S44923075","display_name":"Neuropediatrics","issn_l":"0174-304X","issn":["0174-304X","1439-1899"],"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-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuropediatrics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"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/A5056193115","display_name":"Russell Clive Dale","orcid":"https://orcid.org/0000-0002-2495-1826","observed_orcids":["https://orcid.org/0000-0002-2495-1826"]},"institutions":[{"id":"https://openalex.org/I2801227293","display_name":"Watford General Hospital","ror":"https://ror.org/01v13p275","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800621266","https://openalex.org/I2801227293"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"R. C. Dale","raw_affiliation_strings":["Department of Paediatrics, Watford General Hospital, Hertfordshire, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, Watford General Hospital, Hertfordshire, UK","institution_ids":["https://openalex.org/I2801227293"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070796182","display_name":"Swee Ping Tang","orcid":"https://orcid.org/0000-0003-1844-573X","observed_orcids":["https://orcid.org/0000-0003-1844-573X"]},"institutions":[{"id":"https://openalex.org/I2801227293","display_name":"Watford General Hospital","ror":"https://ror.org/01v13p275","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800621266","https://openalex.org/I2801227293"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"S. Ping Tang","raw_affiliation_strings":["Department of Paediatrics, Watford General Hospital, Hertfordshire, U. K"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, Watford General Hospital, Hertfordshire, U. K","institution_ids":["https://openalex.org/I2801227293"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111705503","display_name":"John Z. Heckmatt","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801227293","display_name":"Watford General Hospital","ror":"https://ror.org/01v13p275","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800621266","https://openalex.org/I2801227293"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"J. Z. Heckmatt","raw_affiliation_strings":["Department of Paediatrics, Watford General Hospital, Hertfordshire, U. K"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, Watford General Hospital, Hertfordshire, U. K","institution_ids":["https://openalex.org/I2801227293"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5021639945","display_name":"M. F. Tatnall","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801227293","display_name":"Watford General Hospital","ror":"https://ror.org/01v13p275","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800621266","https://openalex.org/I2801227293"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"M. F. Tatnall","raw_affiliation_strings":["Department of Dermatology, Watford General Hospital, Hertfordshire, U. K"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology, Watford General Hospital, Hertfordshire, U. K","institution_ids":["https://openalex.org/I2801227293"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I2801227293"],"apc_list":null,"apc_paid":null,"fwci":0.9209,"has_fulltext":false,"cited_by_count":65,"citation_normalized_percentile":{"value":0.74457429,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"31","issue":"3","first_page":"155","last_page":"158"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10308","display_name":"Systemic Lupus Erythematosus Research","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10308","display_name":"Systemic Lupus Erythematosus Research","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11627","display_name":"Autoimmune Neurological Disorders and Treatments","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T13201","display_name":"Infectious Encephalopathies and Encephalitis","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2725","display_name":"Infectious Diseases"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/intracranial-calcification","display_name":"intracranial calcification","score":0.996999979019165},{"id":"https://openalex.org/keywords/intrauterine-growth-restriction","display_name":"fetal growth restriction","score":0.9319999814033508},{"id":"https://openalex.org/keywords/hypocomplementemia","display_name":"hypocomplementemia","score":0.8700000047683716},{"id":"https://openalex.org/keywords/autoantibodies","display_name":"autoantibodies","score":0.9739999771118164},{"id":"https://openalex.org/keywords/thrombocytopenia","display_name":"thrombocytopenia","score":0.8809999823570251},{"id":"https://openalex.org/keywords/streptococcal-infection","display_name":"streptococcal infection","score":0.7210000157356262},{"id":"https://openalex.org/keywords/siblings","display_name":"siblings","score":0.5109999775886536},{"id":"https://openalex.org/keywords/pediatric-autoimmune-disease","display_name":"pediatric autoimmune disease","score":0.5}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.956463098526001},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.4047316908836365},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.3983275890350342},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.39567816257476807}],"mesh":[{"descriptor_ui":"D001323","descriptor_name":"Autoantibodies","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D001927","descriptor_name":"Brain Diseases","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D001927","descriptor_name":"Brain Diseases","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":true},{"descriptor_ui":"D001927","descriptor_name":"Brain Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D002114","descriptor_name":"Calcinosis","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D002114","descriptor_name":"Calcinosis","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","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":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008180","descriptor_name":"Lupus Erythematosus, Systemic","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D008180","descriptor_name":"Lupus Erythematosus, Systemic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008180","descriptor_name":"Lupus Erythematosus, Systemic","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011008","descriptor_name":"Pneumococcal Infections","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D011008","descriptor_name":"Pneumococcal Infections","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":true},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014057","descriptor_name":"Tomography, X-Ray Computed","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015703","descriptor_name":"Antigens, CD","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D017809","descriptor_name":"Fatal Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1055/s-2000-7492","doi":"https://doi.org/10.1055/s-2000-7492","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-2000-7492","pdf_url":null,"source":{"id":"https://openalex.org/S44923075","display_name":"Neuropediatrics","issn_l":"0174-304X","issn":["0174-304X","1439-1899"],"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-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuropediatrics","raw_type":"journal-article"},{"id":"pmid:10963105","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10963105","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":"Neuropediatrics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1988388573","https://openalex.org/W1990143204","https://openalex.org/W1507923491","https://openalex.org/W2900981206","https://openalex.org/W2082109394","https://openalex.org/W2924326606","https://openalex.org/W2409942692","https://openalex.org/W1995218086","https://openalex.org/W3045950543","https://openalex.org/W3193536128"],"abstract_inverted_index":{"We":[0],"present":[1],"two":[2,15],"siblings":[3],"with":[4,10,21,25,105,143],"congenital":[5,43,103,144],"and":[6,37,56,74,76,90,130],"progressive":[7,78,151],"encephalopathy":[8,23,104],"associated":[9,24],"systemic":[11,57,112],"lupus":[12,58,113],"erythematosus.":[13],"The":[14,108],"brothers":[16],"presented":[17],"soon":[18],"after":[19],"birth":[20],"an":[22,125],"intracranial":[26,106],"calcification":[27],"(=2),":[28],"intrauterine":[29],"growth":[30],"retardation":[31],"(=":[32,35,39],"2),":[33],"hepatitis":[34],"1)":[36],"thrombocytopenia":[38],"1),":[40],"mimicking":[41],"a":[42,67,141],"virus":[44],"infection.":[45],"Within":[46],"the":[47,61,72,77,138],"first":[48],"year":[49],"of":[50,64,80,83,102,111,124,137,140],"life":[51],"both":[52],"children":[53,86,116],"developed":[54],"hypocomplementaemia":[55],"erythematosus":[59],"(SLE),":[60],"main":[62],"features":[63],"which":[65],"were":[66,87],"discoid":[68],"lupus-like":[69],"rash":[70],"on":[71],"hands":[73],"feet":[75],"production":[79],"high":[81],"levels":[82,129],"autoantibodies.":[84],"Both":[85],"severely":[88],"handicapped":[89],"died":[91],"in":[92,114],"early":[93,109],"childhood":[94],"from":[95],"streptococcal":[96],"infections.":[97],"There":[98],"are":[99,150],"many":[100],"causes":[101],"calcification.":[107],"development":[110],"these":[115],"suggested":[117],"that":[118],"their":[119],"cerebral":[120],"disease":[121],"formed":[122],"part":[123,136],"autoimmune":[126],"process.":[127],"Complement":[128],"autoantibody":[131],"profiles":[132],"should":[133],"be":[134],"considered":[135],"investigation":[139],"child":[142],"infection-like":[145],"syndrome,":[146],"particularly":[147],"when":[148],"there":[149],"dermatological":[152],"complications.":[153]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":6},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":7}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
