{"id":"https://openalex.org/W2169727031","doi":"https://doi.org/10.1136/jcp.2004.019711","title":"Mutational screening of the CD40 ligand (CD40L) gene in patients with X linked hyper-IgM syndrome (XHIM) and determination of carrier status in female relatives: Table 1","display_name":"Mutational screening of the CD40 ligand (CD40L) gene in patients with X linked hyper-IgM syndrome (XHIM) and determination of carrier status in female relatives: Table 1","publication_year":2004,"publication_date":"2004-12-27","ids":{"openalex":"https://openalex.org/W2169727031","doi":"https://doi.org/10.1136/jcp.2004.019711","mag":"2169727031","pmid":"https://pubmed.ncbi.nlm.nih.gov/15623492","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1770534"},"language":"en","primary_location":{"id":"doi:10.1136/jcp.2004.019711","doi":"https://doi.org/10.1136/jcp.2004.019711","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jcp.2004.019711","pdf_url":"https://jcp.bmj.com/content/jclinpath/58/1/90.full.pdf","source":{"id":"https://openalex.org/S37362813","display_name":"Journal of Clinical Pathology","issn_l":"0021-9746","issn":["0021-9746","1472-4146"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Pathology","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W2169727031"],"child_works_count":0,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://jcp.bmj.com/content/jclinpath/58/1/90.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5046457521","display_name":"Madhuri Prasad","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2803024705","display_name":"Westmead Hospital","ror":"https://ror.org/04gp5yv64","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2803024705","https://openalex.org/I4405259172"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"M L Prasad","raw_affiliation_strings":["Department of Immunopathology, ICPMR, Westmead Hospital, Westmead 2145, Sydney, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Immunopathology, ICPMR, Westmead Hospital, Westmead 2145, Sydney, Australia","institution_ids":["https://openalex.org/I2803024705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091199553","display_name":"Marija Velickovic","orcid":"https://orcid.org/0009-0008-8890-7593","observed_orcids":["https://orcid.org/0009-0008-8890-7593"]},"institutions":[{"id":"https://openalex.org/I2803024705","display_name":"Westmead Hospital","ror":"https://ror.org/04gp5yv64","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2803024705","https://openalex.org/I4405259172"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"M Velickovic","raw_affiliation_strings":["Department of Immunopathology, ICPMR, Westmead Hospital, Westmead 2145, Sydney, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Immunopathology, ICPMR, Westmead Hospital, Westmead 2145, Sydney, Australia","institution_ids":["https://openalex.org/I2803024705"]}]},{"author_position":"middle","author":{"id":null,"display_name":"S A Weston","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2803024705","display_name":"Westmead Hospital","ror":"https://ror.org/04gp5yv64","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2803024705","https://openalex.org/I4405259172"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"S A Weston","raw_affiliation_strings":["Department of Immunopathology, ICPMR, Westmead Hospital, Westmead 2145, Sydney, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Immunopathology, ICPMR, Westmead Hospital, Westmead 2145, Sydney, Australia","institution_ids":["https://openalex.org/I2803024705"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5044564697","display_name":"E M Benson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2803024705","display_name":"Westmead Hospital","ror":"https://ror.org/04gp5yv64","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2803024705","https://openalex.org/I4405259172"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"E M Benson","raw_affiliation_strings":["ICPMR, Westmead Hospital, Westmead 2145, Sydney, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"ICPMR, Westmead Hospital, Westmead 2145, Sydney, Australia","institution_ids":["https://openalex.org/I2803024705"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5044564697"],"corresponding_institution_ids":["https://openalex.org/I2803024705"],"apc_list":null,"apc_paid":null,"fwci":0.1155,"has_fulltext":true,"cited_by_count":23,"citation_normalized_percentile":{"value":0.4543734,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":97},"biblio":{"volume":"58","issue":"1","first_page":"90","last_page":"92"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":1.0,"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"}},"topics":[{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":1.0,"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"}},{"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"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","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"}}],"keywords":[{"id":"https://openalex.org/keywords/cd40-ligand","display_name":"CD40 ligand","score":0.8899999856948853},{"id":"https://openalex.org/keywords/x-linked-hyper-igm-syndrome","display_name":"X-linked hyper-IgM syndrome","score":0.9710000157356262},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.7480000257492065},{"id":"https://openalex.org/keywords/mutation-detection","display_name":"mutation detection","score":0.6159999966621399},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.5210000276565552},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.6340000033378601}],"concepts":[{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.6880870461463928},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.6548709869384766},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6230992078781128},{"id":"https://openalex.org/C49105822","wikidata":"https://www.wikidata.org/wiki/Q176996","display_name":"Polymerase chain reaction","level":3,"score":0.5675721764564514},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5502368211746216},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5474647879600525},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.5133454203605652},{"id":"https://openalex.org/C39347974","wikidata":"https://www.wikidata.org/wiki/Q21135811","display_name":"CD40","level":4,"score":0.45790717005729675},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.43114230036735535},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.3834424316883087},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.11500954627990723},{"id":"https://openalex.org/C202751555","wikidata":"https://www.wikidata.org/wiki/Q221681","display_name":"In vitro","level":2,"score":0.0},{"id":"https://openalex.org/C154317977","wikidata":"https://www.wikidata.org/wiki/Q376266","display_name":"Cytotoxic T cell","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","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":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D006580","descriptor_name":"Genetic Carrier Screening","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":"D006942","descriptor_name":"Hypergammaglobulinemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007075","descriptor_name":"Immunoglobulin M","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D007223","descriptor_name":"Infant","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D023201","descriptor_name":"CD40 Ligand","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1136/jcp.2004.019711","doi":"https://doi.org/10.1136/jcp.2004.019711","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jcp.2004.019711","pdf_url":"https://jcp.bmj.com/content/jclinpath/58/1/90.full.pdf","source":{"id":"https://openalex.org/S37362813","display_name":"Journal of Clinical Pathology","issn_l":"0021-9746","issn":["0021-9746","1472-4146"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Pathology","raw_type":"journal-article"},{"id":"pmid:15623492","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15623492","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":"Journal of clinical pathology","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:1770534","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC1770534/","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"J Clin Pathol","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1136/jcp.2004.019711","doi":"https://doi.org/10.1136/jcp.2004.019711","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jcp.2004.019711","pdf_url":"https://jcp.bmj.com/content/jclinpath/58/1/90.full.pdf","source":{"id":"https://openalex.org/S37362813","display_name":"Journal of Clinical Pathology","issn_l":"0021-9746","issn":["0021-9746","1472-4146"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Pathology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2169727031.pdf","grobid_xml":"https://content.openalex.org/works/W2169727031.grobid-xml"},"referenced_works_count":15,"referenced_works":["https://openalex.org/W1208069797","https://openalex.org/W1528551608","https://openalex.org/W1559060689","https://openalex.org/W1980685243","https://openalex.org/W1997357353","https://openalex.org/W2001845895","https://openalex.org/W2003493411","https://openalex.org/W2003573951","https://openalex.org/W2035753711","https://openalex.org/W2037458235","https://openalex.org/W2066624705","https://openalex.org/W2075869284","https://openalex.org/W2078119374","https://openalex.org/W2145989994","https://openalex.org/W2572233504"],"related_works":["https://openalex.org/W2054520996","https://openalex.org/W2041198036","https://openalex.org/W2010512053","https://openalex.org/W1208069797","https://openalex.org/W1997100627","https://openalex.org/W2967644718","https://openalex.org/W1559060689","https://openalex.org/W2248019448","https://openalex.org/W2117856876","https://openalex.org/W2145989994"],"abstract_inverted_index":{"AIMS:":[0],"To":[1],"analyse":[2],"the":[3,6,19,98,107,110,115],"gene":[4,28],"encoding":[5],"CD40":[7],"ligand":[8],"(CD40L)":[9],"in":[10,103],"11":[11],"Australian":[12],"patients":[13,125],"from":[14],"10":[15,95],"unrelated":[16],"families":[17],"with":[18],"X":[20],"linked":[21],"hyper-IgM":[22],"(XHIM)":[23],"phenotype.":[24],"METHODS:":[25],"The":[26,94],"CD40L":[27,111],"was":[29],"screened":[30],"for":[31,117],"mutations":[32,46,52,61,96],"using":[33],"direct":[34],"sequencing":[35],"of":[36,50,73,109,123,127],"exon":[37],"specific":[38],"polymerase":[39],"chain":[40],"reaction":[41],"(PCR)":[42],"products.":[43],"RESULTS:":[44],"Ten":[45,72],"were":[47,62,90],"identified.":[48],"Seven":[49],"these":[51],"have":[53],"been":[54],"described":[55],"previously,":[56],"whereas":[57],"three":[58,99],"new":[59,100],"nonsense":[60],"identified,":[63],"namely:":[64],"E108X":[65],"(c.322G>T),":[66],"G167X":[67],"(c.499G>T),":[68],"and":[69,83,113,119],"C218X":[70],"(c.654C>A).":[71],"15":[74],"female":[75],"family":[76],"members":[77],"revealed":[78],"both":[79],"a":[80,84],"mutated":[81],"allele":[82],"normal":[85],"allele,":[86],"indicating":[87],"that":[88],"they":[89],"XHIM":[91],"carriers.":[92],"CONCLUSION:":[93],"(including":[97],"ones)":[101],"identified":[102],"this":[104],"study":[105],"reflect":[106],"heterogeneity":[108],"gene,":[112],"indicate":[114],"need":[116],"accurate":[118],"reliable":[120],"molecular":[121],"testing":[122],"those":[124],"suspected":[126],"XHIM.":[128]},"counts_by_year":[{"year":2024,"cited_by_count":3},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}