{"id":"https://openalex.org/W2048312686","doi":"https://doi.org/10.3109/14397595.2014.964388","title":"A long-term follow-up of Japanese mother and her daughter with Blau syndrome: Effective treatment of anti-TNF inhibitors and useful diagnostic tool of joint ultrasound examination","display_name":"A long-term follow-up of Japanese mother and her daughter with Blau syndrome: Effective treatment of anti-TNF inhibitors and useful diagnostic tool of joint ultrasound examination","publication_year":2014,"publication_date":"2014-11-10","ids":{"openalex":"https://openalex.org/W2048312686","doi":"https://doi.org/10.3109/14397595.2014.964388","mag":"2048312686","pmid":"https://pubmed.ncbi.nlm.nih.gov/25381727"},"language":"en","primary_location":{"id":"doi:10.3109/14397595.2014.964388","doi":"https://doi.org/10.3109/14397595.2014.964388","is_oa":false,"landing_page_url":"https://doi.org/10.3109/14397595.2014.964388","pdf_url":null,"source":{"id":"https://openalex.org/S30446230","display_name":"Modern Rheumatology","issn_l":"1439-7595","issn":["1439-7595","1439-7609"],"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"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Modern Rheumatology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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/A5110697053","display_name":"Yoshikazu Otsubo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210092228","display_name":"Sasebo City General Hospital","ror":"https://ror.org/00hx9k210","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210092228"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Yoshikazu Otsubo","raw_affiliation_strings":["Department of Pediatrics, Sasebo City General Hospital, Sasebo, Nagasaki, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Sasebo City General Hospital, Sasebo, Nagasaki, Japan","institution_ids":["https://openalex.org/I4210092228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048628182","display_name":"Ikuo Okafuji","orcid":"https://orcid.org/0009-0006-9409-2082","observed_orcids":["https://orcid.org/0009-0006-9409-2082"]},"institutions":[{"id":"https://openalex.org/I4210161700","display_name":"Kobe City Medical Center General Hospital","ror":"https://ror.org/04j4nak57","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210161700","https://openalex.org/I4405284131"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Ikuo Okafuji","raw_affiliation_strings":["Department of Pediatrics, Kobe City General Hospital, Kobe, Hyogo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Kobe City General Hospital, Kobe, Hyogo, Japan","institution_ids":["https://openalex.org/I4210161700"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056424845","display_name":"Toshimasa Shimizu","orcid":"https://orcid.org/0000-0003-0036-2039","observed_orcids":["https://orcid.org/0000-0003-0036-2039"]},"institutions":[{"id":"https://openalex.org/I4210092228","display_name":"Sasebo City General Hospital","ror":"https://ror.org/00hx9k210","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210092228"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Toshimasa Shimizu","raw_affiliation_strings":["Department of Rheumatology and Metabolism, Sasebo City General Hospital, Sasebo, Nagasaki, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Rheumatology and Metabolism, Sasebo City General Hospital, Sasebo, Nagasaki, Japan","institution_ids":["https://openalex.org/I4210092228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013736888","display_name":"Fumiaki Nonaka","orcid":"https://orcid.org/0009-0003-0696-5778","observed_orcids":["https://orcid.org/0009-0003-0696-5778"]},"institutions":[{"id":"https://openalex.org/I4210092228","display_name":"Sasebo City General Hospital","ror":"https://ror.org/00hx9k210","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210092228"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Fumiaki Nonaka","raw_affiliation_strings":["Department of Rheumatology and Metabolism, Sasebo City General Hospital, Sasebo, Nagasaki, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Rheumatology and Metabolism, Sasebo City General Hospital, Sasebo, Nagasaki, Japan","institution_ids":["https://openalex.org/I4210092228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072897343","display_name":"Kei Ikeda","orcid":"https://orcid.org/0000-0003-0574-9611","observed_orcids":["https://orcid.org/0000-0003-0574-9611"]},"institutions":[{"id":"https://openalex.org/I4210099339","display_name":"Chiba University Hospital","ror":"https://ror.org/0126xah18","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210099339"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kei Ikeda","raw_affiliation_strings":["Department of Allergy and Clinical Immunology, Chiba University Hospital, Chuo-ku, Chiba, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Allergy and Clinical Immunology, Chiba University Hospital, Chuo-ku, Chiba, Japan","institution_ids":["https://openalex.org/I4210099339"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5044442302","display_name":"Katsumi Eguchi","orcid":"https://orcid.org/0000-0003-1841-6728","observed_orcids":["https://orcid.org/0000-0003-1841-6728"]},"institutions":[{"id":"https://openalex.org/I4210092228","display_name":"Sasebo City General Hospital","ror":"https://ror.org/00hx9k210","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210092228"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Katsumi Eguchi","raw_affiliation_strings":["Department of Rheumatology and Metabolism, Sasebo City General Hospital, Sasebo, Nagasaki, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Rheumatology and Metabolism, Sasebo City General Hospital, Sasebo, Nagasaki, Japan","institution_ids":["https://openalex.org/I4210092228"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5110697053"],"corresponding_institution_ids":["https://openalex.org/I4210092228"],"apc_list":{"value":3208,"currency":"USD","value_usd":3208},"apc_paid":null,"fwci":1.2106,"has_fulltext":false,"cited_by_count":23,"citation_normalized_percentile":{"value":0.79467747,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"27","issue":"1","first_page":"169","last_page":"173"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11571","display_name":"Sarcoidosis and Beryllium Toxicity Research","score":0.51419997215271,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/T11571","display_name":"Sarcoidosis and Beryllium Toxicity Research","score":0.51419997215271,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/T11194","display_name":"Ocular Diseases and Beh\u00e7et\u2019s Syndrome","score":0.2498999983072281,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T11078","display_name":"Inflammasome and immune disorders","score":0.1080000028014183,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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"}}],"keywords":[{"id":"https://openalex.org/keywords/blau-syndrome","display_name":"Blau syndrome","score":1.0},{"id":"https://openalex.org/keywords/anti-tnf-therapy","display_name":"anti-TNF therapy","score":0.9010000228881836},{"id":"https://openalex.org/keywords/tumor-necrosis-factor-inhibitors","display_name":"tumor necrosis factor inhibitors","score":0.7689999938011169},{"id":"https://openalex.org/keywords/joint-ultrasound","display_name":"joint ultrasound","score":0.6859999895095825},{"id":"https://openalex.org/keywords/tenosynovitis","display_name":"tenosynovitis","score":0.9359999895095825},{"id":"https://openalex.org/keywords/uveitis","display_name":"uveitis","score":0.7409999966621399},{"id":"https://openalex.org/keywords/autoinflammatory-disease","display_name":"autoinflammatory disease","score":0.7630000114440918},{"id":"https://openalex.org/keywords/rheumatoid-arthritis-differential-diagnosis","display_name":"rheumatoid arthritis differential diagnosis","score":0.9850000143051147},{"id":"https://openalex.org/keywords/familial-disease","display_name":"familial disease","score":0.41100001335144043}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.940595269203186},{"id":"https://openalex.org/C2779244835","wikidata":"https://www.wikidata.org/wiki/Q538432","display_name":"Synovitis","level":3,"score":0.7074901461601257},{"id":"https://openalex.org/C2777077863","wikidata":"https://www.wikidata.org/wiki/Q170990","display_name":"Arthritis","level":2,"score":0.6212083697319031},{"id":"https://openalex.org/C2777575956","wikidata":"https://www.wikidata.org/wiki/Q187255","display_name":"Rheumatoid arthritis","level":2,"score":0.5424872040748596},{"id":"https://openalex.org/C17991360","wikidata":"https://www.wikidata.org/wiki/Q21173843","display_name":"Tumor necrosis factor alpha","level":2,"score":0.5160521864891052},{"id":"https://openalex.org/C2780132546","wikidata":"https://www.wikidata.org/wiki/Q348260","display_name":"Adalimumab","level":3,"score":0.5090315341949463},{"id":"https://openalex.org/C2778570526","wikidata":"https://www.wikidata.org/wiki/Q653197","display_name":"Rash","level":2,"score":0.49525681138038635},{"id":"https://openalex.org/C2779033419","wikidata":"https://www.wikidata.org/wiki/Q308194","display_name":"Daughter","level":2,"score":0.4944193363189697},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.47805410623550415},{"id":"https://openalex.org/C2776751720","wikidata":"https://www.wikidata.org/wiki/Q1505689","display_name":"Tenosynovitis","level":2,"score":0.47520384192466736},{"id":"https://openalex.org/C198451711","wikidata":"https://www.wikidata.org/wiki/Q327657","display_name":"Rheumatology","level":2,"score":0.47512489557266235},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.39264678955078125},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.29503530263900757},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.0},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000068879","descriptor_name":"Adalimumab","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":true},{"descriptor_ui":"D000069285","descriptor_name":"Infliximab","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":true},{"descriptor_ui":"D001168","descriptor_name":"Arthritis","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D001168","descriptor_name":"Arthritis","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005500","descriptor_name":"Follow-Up Studies","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":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012507","descriptor_name":"Sarcoidosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013585","descriptor_name":"Synovitis","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D013585","descriptor_name":"Synovitis","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":true},{"descriptor_ui":"D014409","descriptor_name":"Tumor Necrosis Factor-alpha","qualifier_ui":"Q000037","qualifier_name":"antagonists & inhibitors","is_major_topic":true},{"descriptor_ui":"D014463","descriptor_name":"Ultrasonography","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D014605","descriptor_name":"Uveitis","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D014605","descriptor_name":"Uveitis","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":true},{"descriptor_ui":"D016896","descriptor_name":"Treatment Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018501","descriptor_name":"Antirheumatic Agents","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":true},{"descriptor_ui":"D050823","descriptor_name":"Hand Joints","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":true},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056660","descriptor_name":"Hereditary Autoinflammatory Diseases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.3109/14397595.2014.964388","doi":"https://doi.org/10.3109/14397595.2014.964388","is_oa":false,"landing_page_url":"https://doi.org/10.3109/14397595.2014.964388","pdf_url":null,"source":{"id":"https://openalex.org/S30446230","display_name":"Modern Rheumatology","issn_l":"1439-7595","issn":["1439-7595","1439-7609"],"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"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Modern Rheumatology","raw_type":"journal-article"},{"id":"pmid:25381727","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25381727","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":"Modern rheumatology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9789000153541565,"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":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":12,"referenced_works":["https://openalex.org/W1542410645","https://openalex.org/W1988365589","https://openalex.org/W1995106708","https://openalex.org/W1997158276","https://openalex.org/W2033593935","https://openalex.org/W2069589561","https://openalex.org/W2096380177","https://openalex.org/W2125097883","https://openalex.org/W2125943407","https://openalex.org/W2129857170","https://openalex.org/W2140539537","https://openalex.org/W2165369524"],"related_works":["https://openalex.org/W2125943407","https://openalex.org/W2905819000","https://openalex.org/W2605253374","https://openalex.org/W2987617548","https://openalex.org/W4410266653","https://openalex.org/W3120011169","https://openalex.org/W7128525147","https://openalex.org/W3095378861","https://openalex.org/W4396875334","https://openalex.org/W2754980932"],"abstract_inverted_index":{"Blau":[0],"syndrome":[1],"(BS)":[2],"is":[3,15],"an":[4],"autosomal":[5],"dominant":[6],"autoinflammatory":[7],"disease":[8],"associated":[9],"with":[10,34,48],"NOD2":[11],"gene":[12],"mutations.":[13],"It":[14],"characterized":[16],"by":[17],"arthritis,":[18],"skin":[19],"rash,":[20],"and":[21,31,75],"uveitis.":[22],"Here,":[23],"we":[24],"report":[25],"contrasting":[26],"outcomes":[27],"of":[28,42,54,67,71],"a":[29],"daughter":[30],"her":[32],"mother":[33],"BS.":[35,51],"Their":[36],"long-term":[37],"follow-up":[38],"revealed":[39],"the":[40,68],"efficacy":[41],"anti-tumor":[43],"necrosis":[44],"factor":[45],"inhibitor":[46],"(TNF)":[47],"respect":[49],"to":[50],"Joint":[52],"findings":[53],"BS":[55,63],"feature":[56],"tenosynovitis":[57],"over":[58],"articular":[59],"synovitis":[60],"on":[61],"ultrasonography.":[62],"might":[64],"be":[65],"one":[66],"differential":[69],"diagnoses":[70],"juvenile":[72],"idiopathic":[73],"arthritis":[74],"rheumatoid":[76],"arthritis.":[77]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":4},{"year":2015,"cited_by_count":1}],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2016-06-24T00:00:00"}