{"id":"https://openalex.org/W1995301898","doi":"https://doi.org/10.1002/art.21381","title":"Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twins","display_name":"Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twins","publication_year":2005,"publication_date":"2005-10-27","ids":{"openalex":"https://openalex.org/W1995301898","doi":"https://doi.org/10.1002/art.21381","mag":"1995301898","pmid":"https://pubmed.ncbi.nlm.nih.gov/16255052"},"language":"en","primary_location":{"id":"doi:10.1002/art.21381","doi":"https://doi.org/10.1002/art.21381","is_oa":false,"landing_page_url":"https://doi.org/10.1002/art.21381","pdf_url":null,"source":{"id":"https://openalex.org/S132787887","display_name":"Arthritis & Rheumatism","issn_l":"0004-3591","issn":["0004-3591","1529-0131"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Arthritis & Rheumatism","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/A5042586954","display_name":"Toni Hospach","orcid":"https://orcid.org/0000-0001-5656-9165","observed_orcids":["https://orcid.org/0000-0001-5656-9165"]},"institutions":[{"id":"https://openalex.org/I4210113917","display_name":"Olgahospital","ror":"https://ror.org/01xet8208","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210113917","https://openalex.org/I4210161485"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Toni Hospach","raw_affiliation_strings":["Department of Pediatric Rheumatology, Children's Hospital, Olgahospital, Bismarckstrasse 8, D-70176 Stuttgart, Germany. a.hospach@olgahospital.de","Children's Hospital Olgahospital Stuttgart Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Rheumatology, Children's Hospital, Olgahospital, Bismarckstrasse 8, D-70176 Stuttgart, Germany. a.hospach@olgahospital.de","institution_ids":["https://openalex.org/I4210113917"]},{"raw_affiliation_string":"Children's Hospital Olgahospital Stuttgart Germany","institution_ids":["https://openalex.org/I4210113917"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076539596","display_name":"Pia Lohse","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I8204097","display_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/05591te55","country_code":"DE","type":"education","lineage":["https://openalex.org/I8204097"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Pia Lohse","raw_affiliation_strings":["University of Munich, Munich, GERMANY#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Munich, Munich, GERMANY#TAB#","institution_ids":["https://openalex.org/I8204097"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045942447","display_name":"Helmut Heilbronner","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210113917","display_name":"Olgahospital","ror":"https://ror.org/01xet8208","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210113917","https://openalex.org/I4210161485"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Helmut Heilbronner","raw_affiliation_strings":["Children's Hospital Olgahospital Stuttgart Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital Olgahospital Stuttgart Germany","institution_ids":["https://openalex.org/I4210113917"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019027979","display_name":"Guenther E. Dannecker","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210113917","display_name":"Olgahospital","ror":"https://ror.org/01xet8208","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210113917","https://openalex.org/I4210161485"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Guenther E. Dannecker","raw_affiliation_strings":["Children's Hospital Olgahospital Stuttgart Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital Olgahospital Stuttgart Germany","institution_ids":["https://openalex.org/I4210113917"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5108225166","display_name":"Peter Lohse","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I8204097","display_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/05591te55","country_code":"DE","type":"education","lineage":["https://openalex.org/I8204097"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Peter Lohse","raw_affiliation_strings":["University of Munich, Munich, GERMANY#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Munich, Munich, GERMANY#TAB#","institution_ids":["https://openalex.org/I8204097"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.2065,"has_fulltext":false,"cited_by_count":13,"citation_normalized_percentile":{"value":0.43721336,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"52","issue":"11","first_page":"3606","last_page":"3610"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11078","display_name":"Inflammasome and immune disorders","score":0.9883000254631042,"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"}},"topics":[{"id":"https://openalex.org/T11078","display_name":"Inflammasome and immune disorders","score":0.9883000254631042,"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"}},{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.005400000140070915,"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/T11616","display_name":"Autoimmune and Inflammatory Disorders Research","score":0.002300000051036477,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/mevalonate-kinase-deficiency","display_name":"mevalonate kinase deficiency","score":0.8949999809265137},{"id":"https://openalex.org/keywords/mvk-gene","display_name":"MVK gene","score":0.828000009059906},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.9190000295639038},{"id":"https://openalex.org/keywords/pseudodominant-inheritance","display_name":"pseudodominant inheritance","score":0.8410000205039978},{"id":"https://openalex.org/keywords/monozygotic-twins","display_name":"monozygotic twins","score":0.8870000243186951},{"id":"https://openalex.org/keywords/aberrant-splicing","display_name":"aberrant splicing","score":0.781000018119812},{"id":"https://openalex.org/keywords/recurrent-fever","display_name":"recurrent fever","score":0.5669999718666077},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.3630000054836273}],"concepts":[{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.733893871307373},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.7078000903129578},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6068607568740845},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.48942866921424866},{"id":"https://openalex.org/C3017743773","wikidata":"https://www.wikidata.org/wiki/Q159979","display_name":"Monozygotic twin","level":2,"score":0.4751455783843994},{"id":"https://openalex.org/C2778776201","wikidata":"https://www.wikidata.org/wiki/Q3474283","display_name":"Exon skipping","level":5,"score":0.4713931679725647},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4641140103340149},{"id":"https://openalex.org/C143589142","wikidata":"https://www.wikidata.org/wiki/Q2617554","display_name":"Loss of heterozygosity","level":4,"score":0.4399755001068115},{"id":"https://openalex.org/C54458228","wikidata":"https://www.wikidata.org/wiki/Q237218","display_name":"RNA splicing","level":4,"score":0.4116837978363037},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3868439793586731},{"id":"https://openalex.org/C194583182","wikidata":"https://www.wikidata.org/wiki/Q21114084","display_name":"Alternative splicing","level":4,"score":0.37777066230773926},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3332821726799011},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.20452120900154114},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.15751677751541138}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004200","descriptor_name":"Diseases in Twins","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D004200","descriptor_name":"Diseases in Twins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005076","descriptor_name":"Exanthema","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005334","descriptor_name":"Fever","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006942","descriptor_name":"Hypergammaglobulinemia","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D006942","descriptor_name":"Hypergammaglobulinemia","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D006942","descriptor_name":"Hypergammaglobulinemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007072","descriptor_name":"Immunoglobulin D","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":true},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009035","descriptor_name":"Mothers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010505","descriptor_name":"Familial Mediterranean Fever","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D010505","descriptor_name":"Familial Mediterranean Fever","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D010505","descriptor_name":"Familial Mediterranean Fever","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014430","descriptor_name":"Twins, Monozygotic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017398","descriptor_name":"Alternative Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017853","descriptor_name":"Phosphotransferases (Alcohol Group Acceptor)","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D017853","descriptor_name":"Phosphotransferases (Alcohol Group Acceptor)","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1002/art.21381","doi":"https://doi.org/10.1002/art.21381","is_oa":false,"landing_page_url":"https://doi.org/10.1002/art.21381","pdf_url":null,"source":{"id":"https://openalex.org/S132787887","display_name":"Arthritis & Rheumatism","issn_l":"0004-3591","issn":["0004-3591","1529-0131"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Arthritis & Rheumatism","raw_type":"journal-article"},{"id":"pmid:16255052","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16255052","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":"Arthritis and rheumatism","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9391000270843506,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":17,"referenced_works":["https://openalex.org/W1525723673","https://openalex.org/W1596257295","https://openalex.org/W1966359368","https://openalex.org/W1966995137","https://openalex.org/W1994115980","https://openalex.org/W2004510613","https://openalex.org/W2010048822","https://openalex.org/W2011900288","https://openalex.org/W2012594146","https://openalex.org/W2019700846","https://openalex.org/W2062641743","https://openalex.org/W2099243390","https://openalex.org/W2153467733","https://openalex.org/W2155253341","https://openalex.org/W2158714546","https://openalex.org/W2170165906","https://openalex.org/W2170405569"],"related_works":["https://openalex.org/W2095118453","https://openalex.org/W2099243390","https://openalex.org/W2153467733","https://openalex.org/W1966359368","https://openalex.org/W1596257295","https://openalex.org/W1966995137","https://openalex.org/W2298823183","https://openalex.org/W1999396770","https://openalex.org/W2102476494","https://openalex.org/W3080530194"],"abstract_inverted_index":{"Hyperimmunoglobulinemia":[0],"D":[1],"with":[2,25,38],"periodic":[3],"fever":[4,12],"syndrome":[5],"(HIDS)":[6],"is":[7,151],"a":[8,16,39,72,111],"recessively":[9],"inherited":[10],"recurrent":[11],"syndrome.":[13],"We":[14],"describe":[15],"family":[17],"of":[18,28,33,54,91,126,134,155],"2":[19,62],"monozygotic":[20],"twins":[21],"and":[22,35,37,52,66,108,116,123,128,165],"their":[23],"mother":[24],"characteristic":[26],"symptoms":[27],"HIDS,":[29],"but":[30],"normal":[31],"levels":[32],"IgD":[34],"IgA,":[36],"dominant":[40],"inheritance":[41,143],"pattern.":[42],"Mevalonate":[43],"kinase":[44],"(MK)":[45],"activity":[46,157],"was":[47,79,102,110],"deficient":[48],"in":[49,148],"both":[50],"children,":[51],"analysis":[53,154],"the":[55,76,92,121,131,159],"MVK":[56,93,160],"gene":[57,161],"revealed":[58],"compound":[59,112],"heterozygosity":[60],"for":[61,114],"new":[63],"mutations,":[64],"G25G":[65,77],"R277H.":[67,117],"Being":[68],"positioned":[69],"adjacent":[70],"to":[71,87],"donor":[73],"splice":[74],"site,":[75],"mutation":[78],"shown":[80],"by":[81],"reverse":[82],"transcription-polymerase":[83],"chain":[84],"reaction":[85],"analyses":[86],"cause":[88],"aberrant":[89],"splicing":[90],"messenger":[94],"RNA,":[95],"thus":[96],"being":[97],"disease-relevant.":[98],"The":[99],"mother,":[100],"who":[101],"also":[103],"symptomatic":[104],"during":[105],"her":[106],"childhood":[107],"adolescence,":[109],"heterozygote":[113],"I268T":[115],"Our":[118],"findings":[119],"expand":[120],"genetic":[122],"ethnic":[124],"spectrum":[125],"HIDS":[127,150],"show":[129],"that":[130],"possible":[132],"presence":[133],"this":[135],"disease":[136],"cannot":[137],"be":[138,168],"excluded":[139],"based":[140],"solely":[141],"on":[142],"patterns.":[144],"In":[145],"each":[146],"case":[147],"which":[149],"clinically":[152],"suspected,":[153],"MK":[156],"and/or":[158],"(especially":[162],"exons":[163],"9":[164],"11)":[166],"should":[167],"performed.":[169]},"counts_by_year":[{"year":2024,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}