{"id":"https://openalex.org/W1978992715","doi":"https://doi.org/10.1182/blood-2004-09-3542","title":"Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS)","display_name":"Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS)","publication_year":2004,"publication_date":"2004-11-13","ids":{"openalex":"https://openalex.org/W1978992715","doi":"https://doi.org/10.1182/blood-2004-09-3542","mag":"1978992715","pmid":"https://pubmed.ncbi.nlm.nih.gov/15542578"},"language":"en","primary_location":{"id":"doi:10.1182/blood-2004-09-3542","doi":"https://doi.org/10.1182/blood-2004-09-3542","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood-2004-09-3542","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},"volume":null,"type":"article","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/A5028647628","display_name":"David T. Teachey","orcid":"https://orcid.org/0000-0001-7373-8987","observed_orcids":["https://orcid.org/0000-0001-7373-8987"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"D. T. Teachey","raw_affiliation_strings":["Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, ARC 902, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA","Division of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia","Division of Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia","From the Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia","the Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, ARC 902, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Division of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Division of Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"From the Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"the Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5028647628"],"corresponding_institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"],"apc_list":{"value":5500,"currency":"USD","value_usd":5500},"apc_paid":null,"fwci":3.4516,"has_fulltext":false,"cited_by_count":164,"citation_normalized_percentile":{"value":0.92875435,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"105","issue":"6","first_page":"2443","last_page":"2448"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.9976000189781189,"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":0.9976000189781189,"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":0.0017999999690800905,"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":0.00019999999494757503,"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/evans-syndrome","display_name":"Evans syndrome","score":0.949999988079071},{"id":"https://openalex.org/keywords/autoimmune-lymphoproliferative-syndrome","display_name":"autoimmune lymphoproliferative syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/double-negative-t-cells","display_name":"double-negative T cells","score":0.902999997138977},{"id":"https://openalex.org/keywords/fas-mediated-apoptosis","display_name":"Fas-mediated apoptosis","score":0.8659999966621399},{"id":"https://openalex.org/keywords/t-cell-phenotype","display_name":"T cell phenotype","score":0.7860000133514404},{"id":"https://openalex.org/keywords/autoimmune-cytopenia","display_name":"autoimmune cytopenia","score":0.8320000171661377},{"id":"https://openalex.org/keywords/lymphocyte-homeostasis","display_name":"lymphocyte homeostasis","score":0.8849999904632568},{"id":"https://openalex.org/keywords/pediatric-patients","display_name":"pediatric patients","score":0.8040000200271606}],"concepts":[{"id":"https://openalex.org/C2778959938","wikidata":"https://www.wikidata.org/wiki/Q1151300","display_name":"Autoimmune lymphoproliferative syndrome","level":5,"score":0.9487287998199463},{"id":"https://openalex.org/C2778551932","wikidata":"https://www.wikidata.org/wiki/Q285115","display_name":"Organomegaly","level":3,"score":0.7328943610191345},{"id":"https://openalex.org/C2781128166","wikidata":"https://www.wikidata.org/wiki/Q3109873","display_name":"Evans syndrome","level":4,"score":0.5803643465042114},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.5782981514930725},{"id":"https://openalex.org/C167672396","wikidata":"https://www.wikidata.org/wiki/Q417800","display_name":"CD8","level":3,"score":0.5488415956497192},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5125446319580078},{"id":"https://openalex.org/C190283241","wikidata":"https://www.wikidata.org/wiki/Q14599311","display_name":"Apoptosis","level":2,"score":0.5045088529586792},{"id":"https://openalex.org/C2780130043","wikidata":"https://www.wikidata.org/wiki/Q192360","display_name":"Autoimmunity","level":3,"score":0.4334476590156555},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4253401756286621},{"id":"https://openalex.org/C3031857","wikidata":"https://www.wikidata.org/wiki/Q1649375","display_name":"Fas receptor","level":4,"score":0.4019129276275635},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.31419870257377625},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2688775062561035},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2494153082370758},{"id":"https://openalex.org/C159654299","wikidata":"https://www.wikidata.org/wiki/Q79460","display_name":"Antibody","level":2,"score":0.2151847779750824},{"id":"https://openalex.org/C2775892965","wikidata":"https://www.wikidata.org/wiki/Q1502312","display_name":"Polyneuropathy","level":2,"score":0.15324252843856812},{"id":"https://openalex.org/C31573885","wikidata":"https://www.wikidata.org/wiki/Q304484","display_name":"Programmed cell death","level":3,"score":0.1366015076637268},{"id":"https://openalex.org/C2777385706","wikidata":"https://www.wikidata.org/wiki/Q28814","display_name":"Autoimmune hemolytic anemia","level":3,"score":0.11101263761520386},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"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":"D001327","descriptor_name":"Autoimmune Diseases","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":true},{"descriptor_ui":"D001327","descriptor_name":"Autoimmune Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","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":"D006403","descriptor_name":"Hematologic Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006412","descriptor_name":"Hematopoietic Stem Cells","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":true},{"descriptor_ui":"D006412","descriptor_name":"Hematopoietic Stem Cells","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006706","descriptor_name":"Homeostasis","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008206","descriptor_name":"Lymphatic Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D008206","descriptor_name":"Lymphatic Diseases","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D008206","descriptor_name":"Lymphatic Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D008232","descriptor_name":"Lymphoproliferative Disorders","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D008232","descriptor_name":"Lymphoproliferative Disorders","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":true},{"descriptor_ui":"D008232","descriptor_name":"Lymphoproliferative Disorders","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011237","descriptor_name":"Predictive Value of Tests","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":"D013601","descriptor_name":"T-Lymphocytes","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":true},{"descriptor_ui":"D013601","descriptor_name":"T-Lymphocytes","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D017209","descriptor_name":"Apoptosis","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":true},{"descriptor_ui":"D019014","descriptor_name":"fas Receptor","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1182/blood-2004-09-3542","doi":"https://doi.org/10.1182/blood-2004-09-3542","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood-2004-09-3542","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},{"id":"pmid:15542578","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15542578","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":"Blood","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9922999739646912,"display_name":"Good health and well-being","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":false,"pdf":false},"content_urls":null,"referenced_works_count":34,"referenced_works":["https://openalex.org/W23674014","https://openalex.org/W248162401","https://openalex.org/W1975336660","https://openalex.org/W1976399964","https://openalex.org/W1979461967","https://openalex.org/W1980995033","https://openalex.org/W1984302960","https://openalex.org/W1991250422","https://openalex.org/W2004250733","https://openalex.org/W2006929002","https://openalex.org/W2020444593","https://openalex.org/W2025044046","https://openalex.org/W2025946997","https://openalex.org/W2028111124","https://openalex.org/W2034469738","https://openalex.org/W2037123315","https://openalex.org/W2041466047","https://openalex.org/W2065413461","https://openalex.org/W2074280352","https://openalex.org/W2078433465","https://openalex.org/W2080601697","https://openalex.org/W2082449796","https://openalex.org/W2085173450","https://openalex.org/W2088761023","https://openalex.org/W2089244519","https://openalex.org/W2091416282","https://openalex.org/W2097867928","https://openalex.org/W2112961353","https://openalex.org/W2137950352","https://openalex.org/W2154757961","https://openalex.org/W2158790601","https://openalex.org/W2172646270","https://openalex.org/W2397762355","https://openalex.org/W7118080028"],"related_works":["https://openalex.org/W1991732230","https://openalex.org/W2557571147","https://openalex.org/W4310096350","https://openalex.org/W1520810528","https://openalex.org/W2559052578","https://openalex.org/W3008651739","https://openalex.org/W4389161507","https://openalex.org/W3039730646","https://openalex.org/W3035282000","https://openalex.org/W2546595227"],"abstract_inverted_index":{"Autoimmune":[0],"lymphoproliferative":[1],"syndrome":[2,42],"(ALPS)":[3],"is":[4],"a":[5,44,61,133,165,172,188,197],"rare":[6],"disorder":[7,46],"of":[8,14,27,32,51,63,101,108,125,139,148,155,161,174,190],"disrupted":[9],"lymphocyte":[10],"homeostasis.":[11],"Clinical":[12],"manifestations":[13],"ALPS":[15,109],"vary":[16],"but":[17],"typically":[18],"include":[19],"autoimmune":[20,49],"cytopenias,":[21],"organomegaly,":[22],"lymphadenopathy,":[23],"and":[24,88,110,130],"increased":[25],"risk":[26],"malignancies.":[28],"A":[29],"similar":[30],"spectrum":[31],"symptoms":[33],"may":[34,68,163,194],"be":[35,164],"seen":[36],"in":[37,96,153],"some":[38],"patients":[39,64,103,119,141,175,191],"with":[40,66,75,89,142,150,192,200],"Evans":[41],"(ES),":[43],"hematologic":[45,55],"defined":[47],"by":[48,77],"destruction":[50],"at":[52],"least":[53],"2":[54],"cell":[56],"types.":[57],"We":[58,71],"hypothesized":[59],"that":[60,159,187],"subset":[62],"diagnosed":[65],"ES":[67,76,143,193],"have":[69,195],"ALPS.":[70,182],"screened":[72],"12":[73,140],"children":[74],"flow":[78],"cytometric":[79],"analysis":[80,160],"for":[81,93,181],"CD4-/CD8-":[82],"(double":[83],"negative)":[84],"T":[85],"cells":[86],"(DNTs)":[87],"the":[90,102],"definitive":[91,179],"test":[92],"ALPS,":[94,149,196],"defective":[95,113],"vitro":[97],"Fas-mediated":[98,114],"apoptosis.":[99,115],"Six":[100],"had":[104,112,127,132,144],"elevated":[105,145],"DNTs,":[106,129],"suggestive":[107,147],"also":[111],"The":[116],"other":[117],"6":[118,154],"displayed":[120],"normal":[121,128],"T-cell":[122],"apoptosis;":[123],"5":[124],"whom":[126],"1":[131],"borderline":[134],"result.":[135],"Thus,":[136],"7":[137],"(58%)":[138],"DNTs":[146,162],"functional":[151],"confirmation":[152],"7.":[156],"This":[157],"suggests":[158],"sensitive":[166],"first-line":[167],"screening":[168],"test,":[169],"serving":[170],"as":[171],"marker":[173],"who":[176],"should":[177],"undergo":[178],"testing":[180],"Our":[183],"data":[184],"further":[185],"suggest":[186],"number":[189],"novel":[198],"finding":[199],"important":[201],"therapeutic":[202],"implications.":[203]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":12},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":8},{"year":2018,"cited_by_count":10},{"year":2017,"cited_by_count":7},{"year":2016,"cited_by_count":13},{"year":2015,"cited_by_count":9},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":7},{"year":2012,"cited_by_count":7}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}
