{"id":"https://openalex.org/W100316808","doi":null,"title":"[Genetic and proteinic analysis of a Chinese boy with X-linked lymphoproliferative disease and his maternal relatives].","display_name":"[Genetic and proteinic analysis of a Chinese boy with X-linked lymphoproliferative disease and his maternal relatives].","publication_year":2011,"publication_date":"2011-06-01","ids":{"openalex":"https://openalex.org/W100316808","mag":"100316808","pmid":"https://pubmed.ncbi.nlm.nih.gov/21924052"},"language":"zh","primary_location":{"id":"pmid:21924052","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21924052","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":"Case Reports"},"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/A5054896262","display_name":"Xi Yang","orcid":"https://orcid.org/0000-0001-7333-3496","observed_orcids":["https://orcid.org/0000-0001-7333-3496"]},"institutions":[{"id":"https://openalex.org/I87780372","display_name":"Chongqing Medical University","ror":"https://ror.org/017z00e58","country_code":"CN","type":"education","lineage":["https://openalex.org/I87780372"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xi Yang","raw_affiliation_strings":["Chongqing Medical University, Chongqing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Chongqing Medical University, Chongqing, China","institution_ids":["https://openalex.org/I87780372"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Jing Wang","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jing Wang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077624972","display_name":"Yunfei An","orcid":"https://orcid.org/0000-0001-9664-1256","observed_orcids":["https://orcid.org/0000-0001-9664-1256"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yun-fei An","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/A5111760737","display_name":"Toshio Miyawaki","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Toshio Miyawaki","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5090816390","display_name":"Xiaodong Zhao","orcid":"https://orcid.org/0000-0003-2054-8711","observed_orcids":["https://orcid.org/0000-0003-2054-8711"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Xiao-dong Zhao","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.1324,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.47703312,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"49","issue":"6","first_page":"416","last_page":"20"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.9937000274658203,"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":0.9937000274658203,"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/T10685","display_name":"Viral-associated cancers and disorders","score":0.0031999999191612005,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/T11616","display_name":"Autoimmune and Inflammatory Disorders Research","score":0.0010000000474974513,"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/x-linked-lymphoproliferative-disease","display_name":"X-linked lymphoproliferative disease","score":0.9670000076293945},{"id":"https://openalex.org/keywords/epstein-barr-virus","display_name":"Epstein-Barr virus","score":0.6349999904632568},{"id":"https://openalex.org/keywords/ebv-dna","display_name":"EBV DNA","score":0.5770000219345093},{"id":"https://openalex.org/keywords/hemophagocytic-lymphohistiocytosis","display_name":"hemophagocytic lymphohistiocytosis","score":0.8389999866485596},{"id":"https://openalex.org/keywords/carrier-detection","display_name":"carrier detection","score":0.5529999732971191},{"id":"https://openalex.org/keywords/premature-termination-codon","display_name":"premature stop codon","score":0.671999990940094},{"id":"https://openalex.org/keywords/immunodeficiency","display_name":"immunodeficiency","score":0.5989999771118164},{"id":"https://openalex.org/keywords/multiple-organ-failure","display_name":"multiple organ failure","score":0.5460000038146973},{"id":"https://openalex.org/keywords/chinese-patients","display_name":"Chinese patients","score":0.382999986410141}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8030412197113037},{"id":"https://openalex.org/C2777805810","wikidata":"https://www.wikidata.org/wiki/Q1047559","display_name":"Hypogammaglobulinemia","level":3,"score":0.6127464771270752},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.5532660484313965},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.5352448225021362},{"id":"https://openalex.org/C2781107259","wikidata":"https://www.wikidata.org/wiki/Q5508364","display_name":"Fulminant","level":2,"score":0.47431302070617676},{"id":"https://openalex.org/C2777607303","wikidata":"https://www.wikidata.org/wiki/Q641307","display_name":"Immunodeficiency","level":3,"score":0.4636821150779724},{"id":"https://openalex.org/C2776995267","wikidata":"https://www.wikidata.org/wiki/Q4165484","display_name":"Lymphoproliferative disorders","level":3,"score":0.4453234076499939},{"id":"https://openalex.org/C2779879524","wikidata":"https://www.wikidata.org/wiki/Q23009870","display_name":"Cousin","level":2,"score":0.4180568754673004},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.4016011655330658},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3847893476486206},{"id":"https://openalex.org/C2779338263","wikidata":"https://www.wikidata.org/wiki/Q208414","display_name":"Lymphoma","level":2,"score":0.37988847494125366},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.21964383125305176},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2045746147632599},{"id":"https://openalex.org/C159654299","wikidata":"https://www.wikidata.org/wiki/Q79460","display_name":"Antibody","level":2,"score":0.1802157163619995},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.13819319009780884},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.12615525722503662},{"id":"https://openalex.org/C166957645","wikidata":"https://www.wikidata.org/wiki/Q23498","display_name":"Archaeology","level":1,"score":0.0},{"id":"https://openalex.org/C95457728","wikidata":"https://www.wikidata.org/wiki/Q309","display_name":"History","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000071179","descriptor_name":"Signaling Lymphocytic Activation Molecule Associated Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002352","descriptor_name":"Carrier Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004279","descriptor_name":"DNA, Viral","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D004854","descriptor_name":"Herpesvirus 4, Human","qualifier_ui":"Q000302","qualifier_name":"isolation & purification","is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","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":"D008232","descriptor_name":"Lymphoproliferative Disorders","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D008232","descriptor_name":"Lymphoproliferative Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008232","descriptor_name":"Lymphoproliferative Disorders","qualifier_ui":"Q000821","qualifier_name":"virology","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":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020031","descriptor_name":"Epstein-Barr Virus Infections","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D047908","descriptor_name":"Intracellular Signaling Peptides and Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"pmid:21924052","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21924052","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":"Case Reports"},{"id":"mag:100316808","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21924052","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":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"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":0,"referenced_works":[],"related_works":["https://openalex.org/W3029349194","https://openalex.org/W1934914872","https://openalex.org/W2033937885","https://openalex.org/W2048400007","https://openalex.org/W2415635951","https://openalex.org/W1993523536","https://openalex.org/W2979681684","https://openalex.org/W2073833443","https://openalex.org/W2107504707","https://openalex.org/W3045307339"],"abstract_inverted_index":{"OBJECTIVE:":[0],"X-linked":[1],"lymphoproliferative":[2],"disease":[3],"(XLP),":[4],"a":[5,54,85,104,180,189,229],"genetic":[6],"disorder":[7],"characterized":[8],"by":[9,98,145,154,240],"immunodeficiency":[10],"to":[11,19,82,118,137,204,220,244],"Epstein-Barr":[12],"virus":[13],"(EBV)":[14],"infection,":[15],"has":[16],"been":[17],"linked":[18],"mutations":[20],"in":[21,75,183,188],"the":[22,43,90,124,143,177,199,213,224,261],"SH2D1A":[23,153],"gene.":[24],"XLP":[25,58,231],"patient":[26,56,68,79,130,163,178,214],"displays":[27],"EBV":[28,256],"associated":[29],"fulminant":[30,119],"infectious":[31,120],"mononucleosis":[32,121],"or":[33,37],"hemophagocytic":[34],"lymphohistocytosis,":[35],"hypogammaglobulinemia":[36],"malignant":[38],"lymphoma.":[39],"Here":[40],"we":[41],"report":[42],"clinical":[44],"features,":[45],"gene":[46,149],"mutation":[47,150,182],"and":[48,59,69,103,131,148,196,223],"SAP":[49,140,210,236],"expression":[50,141,211,237],"on":[51,89,142,158,238],"PBMCs":[52,144,239],"of":[53,96,110,126,139,152,168,198,207,235,255,263],"Chinese":[55,230],"with":[57,84],"potential":[60],"carriers.":[61,225],"METHOD:":[62],"A":[63],"6":[64],"years":[65,95],"old":[66],"male":[67],"his":[70,132],"maternal":[71,133,200],"relatives":[72,134,201],"were":[73,135,202],"enrolled":[74],"this":[76,208,252],"study.":[77],"The":[78,129,162],"was":[80,215],"found":[81],"have":[83],"renal":[86],"Burkitt":[87],"lymphoma":[88],"right":[91],"waist":[92],"at":[93,123],"5":[94],"age":[97,125],"accident.":[99],"His":[100,194],"elder":[101],"brother":[102],"maternally":[105],"related":[106],"cousin":[107],"both":[108],"died":[109],"multiple":[111],"systemic":[112],"organ":[113],"dysfunction":[114],"syndrome":[115],"(MODS)":[116],"due":[117],"(FIM)":[122],"one":[127],"year.":[128],"subjected":[136],"detection":[138],"flow":[146,241],"cytometry":[147,242],"analysis":[151,174],"using":[155],"PCR":[156],"based":[157],"genomic":[159],"DNA.":[160],"RESULT:":[161],"exhibited":[164],"536.9":[165],"copy/ml":[166],"level":[167],"circulating":[169],"EBV-DNA":[170],"during":[171],"remission.":[172],"Sequence":[173],"showed":[175],"that":[176],"harbored":[179],"nonsense":[181],"exon":[184],"2":[185],"(C462T),":[186],"resulting":[187],"premature":[190],"stop":[191],"codon":[192],"(Arg55X).":[193],"mother":[195],"some":[197],"proved":[203],"be":[205,245],"carriers":[206],"mutation.":[209],"from":[212],"significantly":[216],"reduced":[217],"as":[218],"compared":[219],"normal":[221],"individual":[222],"CONCLUSION:":[226],"We":[227],"identified":[228],"case":[232],"genetically.":[233],"Assessment":[234],"seemed":[243],"an":[246],"effective":[247],"rapid":[248],"diagnostic":[249],"method":[250],"for":[251],"disease.":[253],"Absence":[254],"infection":[257],"does":[258],"not":[259],"diminish":[260],"possibility":[262],"XLP.":[264]},"counts_by_year":[{"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"}
