{"id":"https://openalex.org/W98517426","doi":null,"title":"[Gene diagnosis of X-linked agammaglobulinemia].","display_name":"[Gene diagnosis of X-linked agammaglobulinemia].","publication_year":2005,"publication_date":"2005-06-01","ids":{"openalex":"https://openalex.org/W98517426","mag":"98517426","pmid":"https://pubmed.ncbi.nlm.nih.gov/16053733"},"language":"zh","primary_location":{"id":"pmid:16053733","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16053733","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":"Zhonghua er ke za zhi = Chinese journal of pediatrics","raw_type":"Journal Article"},"volume":null,"type":"article","indexed_in":["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/A5100764928","display_name":"Xiaochuan Wang","orcid":"https://orcid.org/0000-0003-3768-324X","observed_orcids":["https://orcid.org/0000-0003-3768-324X"]},"institutions":[{"id":"https://openalex.org/I24943067","display_name":"Fudan University","ror":"https://ror.org/013q1eq08","country_code":"CN","type":"education","lineage":["https://openalex.org/I24943067"]},{"id":"https://openalex.org/I4210159329","display_name":"Children's Hospital of Fudan University","ror":"https://ror.org/05n13be63","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159329"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiao-chuan Wang","raw_affiliation_strings":["Department of Clinical Immunology, Children's Hospital, Fudan University, Shanghai 200032, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Immunology, Children's Hospital, Fudan University, Shanghai 200032, China","institution_ids":["https://openalex.org/I24943067","https://openalex.org/I4210159329"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100347150","display_name":"Ying Wang","orcid":"https://orcid.org/0000-0002-7852-386X","observed_orcids":["https://orcid.org/0000-0002-7852-386X","https://orcid.org/0000-0001-8941-0484"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ying Wang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029680324","display_name":"Hirokazu Kanegane","orcid":"https://orcid.org/0000-0002-8696-9378","observed_orcids":["https://orcid.org/0000-0002-8696-9378"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hirokazu Kanegane","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112023885","display_name":"Miyawaki Toshio","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Miyawaki Toshio","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5108653288","display_name":"Yeheng Yu","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ye-heng Yu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.1109,"has_fulltext":false,"cited_by_count":5,"citation_normalized_percentile":{"value":0.45038168,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"43","issue":"6","first_page":"449","last_page":"52"},"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/T12919","display_name":"Blood disorders and treatments","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/x-linked-agammaglobulinemia","display_name":"X-linked agammaglobulinemia","score":1.0},{"id":"https://openalex.org/keywords/bruton-tyrosine-kinase","display_name":"Bruton's tyrosine kinase","score":0.9589999914169312},{"id":"https://openalex.org/keywords/btk-gene-mutation","display_name":"BTK gene mutation","score":0.9259999990463257},{"id":"https://openalex.org/keywords/primary-immunodeficiency","display_name":"primary immunodeficiency","score":0.953000009059906},{"id":"https://openalex.org/keywords/hypogammaglobulinemia","display_name":"hypogammaglobulinemia","score":0.925000011920929},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.9120000004768372},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.6600000262260437},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.7689999938011169},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.8209999799728394},{"id":"https://openalex.org/keywords/carrier-detection","display_name":"carrier detection","score":0.5180000066757202},{"id":"https://openalex.org/keywords/ph-domain","display_name":"pleckstrin homology domain","score":0.7799999713897705},{"id":"https://openalex.org/keywords/chinese-patients","display_name":"Chinese patients","score":0.48100000619888306}],"concepts":[{"id":"https://openalex.org/C2779528874","wikidata":"https://www.wikidata.org/wiki/Q283108","display_name":"X-linked agammaglobulinemia","level":5,"score":0.9245603680610657},{"id":"https://openalex.org/C90059517","wikidata":"https://www.wikidata.org/wiki/Q423572","display_name":"Bruton's tyrosine kinase","level":4,"score":0.8863269686698914},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.8381997346878052},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.6922528147697449},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6786304712295532},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.6122360825538635},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.5847017168998718},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5460893511772156},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5136606097221375},{"id":"https://openalex.org/C2779019163","wikidata":"https://www.wikidata.org/wiki/Q3043160","display_name":"Primary immunodeficiency","level":3,"score":0.5052617192268372},{"id":"https://openalex.org/C20580545","wikidata":"https://www.wikidata.org/wiki/Q28354","display_name":"Stop codon","level":3,"score":0.4515024423599243},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.43959230184555054},{"id":"https://openalex.org/C163565370","wikidata":"https://www.wikidata.org/wiki/Q4308623","display_name":"Mutation testing","level":4,"score":0.41375842690467834},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4085369110107422},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.34201741218566895},{"id":"https://openalex.org/C42362537","wikidata":"https://www.wikidata.org/wiki/Q87099740","display_name":"Tyrosine kinase","level":3,"score":0.29400116205215454},{"id":"https://openalex.org/C62478195","wikidata":"https://www.wikidata.org/wiki/Q828130","display_name":"Signal transduction","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":[{"descriptor_ui":"D000077329","descriptor_name":"Agammaglobulinaemia Tyrosine Kinase","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000361","descriptor_name":"Agammaglobulinemia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000361","descriptor_name":"Agammaglobulinemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","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":"D002681","descriptor_name":"China","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"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":"D011505","descriptor_name":"Protein-Tyrosine Kinases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018076","descriptor_name":"DNA, Complementary","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018389","descriptor_name":"Codon, Nonsense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020133","descriptor_name":"Reverse Transcriptase Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:16053733","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16053733","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":"Zhonghua er ke za zhi = Chinese journal of pediatrics","raw_type":"Journal Article"},{"id":"mag:98517426","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16053733","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"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":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2161795918","https://openalex.org/W2357744491","https://openalex.org/W2108417020","https://openalex.org/W2511955348","https://openalex.org/W2105502724","https://openalex.org/W2049753825","https://openalex.org/W1999560663","https://openalex.org/W2079599943","https://openalex.org/W2021753688","https://openalex.org/W2128051101"],"abstract_inverted_index":{"OBJECTIVE:":[0],"X-linked":[1],"agammaglobulinemia":[2],"(XLA)":[3],"is":[4,14],"the":[5,19,56,77,101,114,118,128,171,213,228,237,278],"most":[6],"common":[7],"disorder":[8],"among":[9],"primary":[10],"immunodeficiency":[11],"diseases,":[12],"which":[13],"caused":[15],"by":[16,27],"mutations":[17,110,120,130,139,160,199,239,281],"in":[18,40,63,76,113,133,141,145,161,167,174,201,219,233,268],"cytoplasmic":[20],"Bruton's":[21],"tyrosine":[22],"kinase":[23],"(BTK)":[24],"gene,":[25],"characterized":[26],"lack":[28],"of":[29,58,61,65,90,127,163,185,236,250,256,275,289,301],"mature,":[30],"circulating":[31],"B":[32],"lymphocytes,":[33],"hypogammaglobulinemia,":[34],"and":[35,87,100,144,153,170,180,192,197,216,221,244,260,287,303],"recurrent":[36],"bacterial":[37],"infections.":[38],"Mutations":[39],"BTK":[41,53,123,142,284],"are":[42,240],"highly":[43],"diverse.":[44],"In":[45],"this":[46,269],"study,":[47],"genetic":[48],"analysis":[49,295],"was":[50,80,262],"performed":[51],"on":[52],"to":[54,82],"realize":[55],"feature":[57],"gene":[59],"mutation":[60,102,186,242],"XLA":[62,302],"Mainland":[64],"China.":[66],"METHODS:":[67],"Seven":[68,107],"patients":[69,266],"from":[70,306],"7":[71,115,119,129,164,238,251,279],"different":[72,109],"families":[73],"were":[74,92,98,104,111,131,166,173,253,258,291],"enrolled":[75,267],"analysis.":[78],"RT-PCR":[79],"employed":[81],"reverse":[83],"transcript":[84],"total":[85],"RNA":[86],"8":[88,179,223],"couples":[89],"primers":[91],"designed":[93],"for":[94,299],"PCR.":[95],"PCR":[96],"products":[97],"sequenced":[99],"sites":[103],"identified.":[105],"RESULTS:":[106],"completely":[108],"identified":[112,280],"patients.":[116],"All":[117,277],"located":[121,132,140,211,282],"at":[122,149,227,283],"coding":[124,285],"region.":[125],"Three":[126],"pleckstrin":[134],"homology":[135,151,155],"functional":[136],"area,":[137,143],"2":[138,147,152,162],"other":[146,307],"cases":[148,165],"Src":[150,154],"3":[156,188,255],"regions,":[157],"respectively.":[158,182],"The":[159,183,265],"exon":[168,175],"18,":[169],"others":[172],"2,":[176],"5,":[177],"6,":[178],"10,":[181],"types":[184,243],"included":[187],"missense":[189],"(L11P,":[190],"I590F":[191],"Y591S),":[193],"two":[194],"nonsense":[195],"(W281X,":[196],"Q234X)":[198],"resulting":[200,218,232],"premature":[202],"stop":[203],"codons.":[204],"A":[205],"10-base":[206],"pair":[207,225],"nucleotides":[208],"duplicated":[209],"insertion":[210],"between":[212],"nucleotide":[214,229],"596":[215],"597":[217],"frameshift,":[220],"a":[222],"base":[224],"deletion":[226],"position":[230],"472":[231],"frameshift.":[234],"Four":[235,249],"novel":[241,292],"have":[245],"not":[246],"been":[247],"reported.":[248],"mothers":[252],"analyzed,":[254],"them":[257,290],"carrier":[259],"1":[261],"normal.":[263],"CONCLUSION:":[264],"study":[270],"had":[271],"classical":[272],"clinical":[273],"features":[274],"XLA.":[276],"region":[286],"4":[288],"mutations.":[293],"Genetic":[294],"can":[296],"be":[297],"used":[298],"diagnosis":[300],"distinguish":[304],"it":[305],"hypogammaglobulinemia.":[308]},"counts_by_year":[{"year":2019,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-02T09:45:03.842371","created_date":"2016-06-24T00:00:00"}
