{"id":"https://openalex.org/W4404530243","doi":"https://doi.org/10.70962/cis2025abstract.93","title":"EBV Susceptibility Associated with RECQL4 Deficiency","display_name":"EBV Susceptibility Associated with RECQL4 Deficiency","publication_year":2025,"publication_date":"2025-04-25","ids":{"openalex":"https://openalex.org/W4404530243","doi":"https://doi.org/10.70962/cis2025abstract.93"},"language":"en","primary_location":{"id":"doi:10.70962/cis2025abstract.93","doi":"https://doi.org/10.70962/cis2025abstract.93","is_oa":true,"landing_page_url":"https://doi.org/10.70962/cis2025abstract.93","pdf_url":null,"source":{"id":"https://openalex.org/S5407048701","display_name":"Journal of Human Immunity","issn_l":"3065-8993","issn":["3065-8993"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","jufo-1","ki-jl-1"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Immunity","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://doi.org/10.70962/cis2025abstract.93","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Beno\u00eet Heid-Picard","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I40434647","https://openalex.org/I4210100892","https://openalex.org/I4210124654","https://openalex.org/I4210165077","https://openalex.org/I48825208"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Beno\u00eet Heid-Picard","raw_affiliation_strings":["1PhD Student/Institut Imagine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1PhD Student/Institut Imagine","institution_ids":["https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039734347","display_name":"Alexandre Degachi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I40434647","https://openalex.org/I4210100892","https://openalex.org/I4210124654","https://openalex.org/I4210165077","https://openalex.org/I48825208"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Alexandre Degachi","raw_affiliation_strings":["1PhD Student/Institut Imagine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1PhD Student/Institut Imagine","institution_ids":["https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086143583","display_name":"Sarah Winter","orcid":"https://orcid.org/0000-0001-7985-3986","observed_orcids":["https://orcid.org/0000-0001-7985-3986"]},"institutions":[{"id":"https://openalex.org/I80043","display_name":"Institut Curie","ror":"https://ror.org/04t0gwh46","country_code":"FR","type":"nonprofit","lineage":["https://openalex.org/I80043"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Sarah Winter","raw_affiliation_strings":["2MD/Institut Curie"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"2MD/Institut Curie","institution_ids":["https://openalex.org/I80043"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028968837","display_name":"Agathe Escudier","orcid":"https://orcid.org/0009-0003-9459-6510","observed_orcids":["https://orcid.org/0009-0003-9459-6510"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Agathe Escudier","raw_affiliation_strings":["3Pediatrician/Hospital Necker-Enfants Malades, Assistance Publique-Hospitaux de Paris, INSERM, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"3Pediatrician/Hospital Necker-Enfants Malades, Assistance Publique-Hospitaux de Paris, INSERM, Paris, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488","https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048770468","display_name":"Vincent Barlogis","orcid":"https://orcid.org/0000-0001-9645-3968","observed_orcids":["https://orcid.org/0000-0001-9645-3968"]},"institutions":[{"id":"https://openalex.org/I4210162909","display_name":"H\u00f4pital de la Timone","ror":"https://ror.org/05jrr4320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I21491767","https://openalex.org/I4210087487","https://openalex.org/I4210162909"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Vincent Barlogis","raw_affiliation_strings":["4MD/H\u00f4pital La Timone, Marseille"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"4MD/H\u00f4pital La Timone, Marseille","institution_ids":["https://openalex.org/I4210162909"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105217964","display_name":"Sujal Ghosh","orcid":"https://orcid.org/0000-0001-5647-4262","observed_orcids":["https://orcid.org/0000-0001-5647-4262"]},"institutions":[{"id":"https://openalex.org/I44260953","display_name":"Heinrich Heine University D\u00fcsseldorf","ror":"https://ror.org/024z2rq82","country_code":"DE","type":"education","lineage":["https://openalex.org/I44260953"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Sujal Ghosh","raw_affiliation_strings":["5Consultant Physician/Department for Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich Heine University, D\u00fcsseldorf, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"5Consultant Physician/Department for Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich Heine University, D\u00fcsseldorf, Germany","institution_ids":["https://openalex.org/I44260953"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001573602","display_name":"Isabelle Pellier","orcid":"https://orcid.org/0000-0002-7988-4712","observed_orcids":["https://orcid.org/0000-0002-7988-4712"]},"institutions":[{"id":"https://openalex.org/I4210112910","display_name":"Centre Hospitalier Universitaire d'Angers","ror":"https://ror.org/0250ngj72","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210112910"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Isabelle Pellier","raw_affiliation_strings":["6MD/H\u00f4pital d Angers"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"6MD/H\u00f4pital d Angers","institution_ids":["https://openalex.org/I4210112910"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029004287","display_name":"Alain Fischer","orcid":"https://orcid.org/0000-0003-4025-5983","observed_orcids":["https://orcid.org/0000-0003-4025-5983"]},"institutions":[{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I40434647","https://openalex.org/I4210100892","https://openalex.org/I4210124654","https://openalex.org/I4210165077","https://openalex.org/I48825208"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Alain Fischer","raw_affiliation_strings":["7MD/Institut Imagine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"7MD/Institut Imagine","institution_ids":["https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058875000","display_name":"Fr\u00e9d\u00e9ric Vely","orcid":"https://orcid.org/0000-0002-1682-0949","observed_orcids":["https://orcid.org/0000-0002-1682-0949"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Fr\u00e9d\u00e9ric Vely","raw_affiliation_strings":["8PharmD/Immunop\u00f4le Marseille"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"8PharmD/Immunop\u00f4le Marseille","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103207208","display_name":"Benjamin Fournier","orcid":"https://orcid.org/0000-0002-4189-996X","observed_orcids":["https://orcid.org/0000-0002-4189-996X","https://orcid.org/0000-0003-4383-7524"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Benjamin Fournier","raw_affiliation_strings":["9MD/H\u00f4pital Necker"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"9MD/H\u00f4pital Necker","institution_ids":["https://openalex.org/I1288880153"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063790935","display_name":"Capucine P\u00efcard","orcid":"https://orcid.org/0000-0001-8788-5056","observed_orcids":["https://orcid.org/0000-0001-8788-5056","https://orcid.org/0000-0002-0306-2472"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Capucine Picard","raw_affiliation_strings":["9MD/H\u00f4pital Necker"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"9MD/H\u00f4pital Necker","institution_ids":["https://openalex.org/I1288880153"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028703971","display_name":"David Boutboul","orcid":"https://orcid.org/0000-0002-5006-8279","observed_orcids":["https://orcid.org/0000-0002-5006-8279"]},"institutions":[{"id":"https://openalex.org/I4210092774","display_name":"H\u00f4pital Cochin","ror":"https://ror.org/00ph8tk69","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210092774","https://openalex.org/I4210097159","https://openalex.org/I4210124464"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"David Boutboul","raw_affiliation_strings":["10MD/H\u00f4pital Cochin"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"10MD/H\u00f4pital Cochin","institution_ids":["https://openalex.org/I4210092774"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039078144","display_name":"Christelle Lenoir","orcid":"https://orcid.org/0000-0002-9844-654X","observed_orcids":["https://orcid.org/0000-0002-9844-654X"]},"institutions":[{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I40434647","https://openalex.org/I4210100892","https://openalex.org/I4210124654","https://openalex.org/I4210165077","https://openalex.org/I48825208"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Christelle Lenoir","raw_affiliation_strings":["11Engineer/Institut Imagine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"11Engineer/Institut Imagine","institution_ids":["https://openalex.org/I4210165077"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5080495909","display_name":"Sylvain Latour","orcid":"https://orcid.org/0000-0001-8238-4391","observed_orcids":["https://orcid.org/0000-0001-8238-4391"]},"institutions":[{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I40434647","https://openalex.org/I4210100892","https://openalex.org/I4210124654","https://openalex.org/I4210165077","https://openalex.org/I48825208"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Sylvain Latour","raw_affiliation_strings":["12Researcher, Head of the Laboratory/Institut Imagine U1163"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"12Researcher, Head of the Laboratory/Institut Imagine U1163","institution_ids":["https://openalex.org/I4210165077"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":9,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.00056075,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"1","issue":"CIS2025","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.9409000277519226,"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":0.9409000277519226,"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/T10981","display_name":"Cytomegalovirus and herpesvirus research","score":0.024800000712275505,"subfield":{"id":"https://openalex.org/subfields/2713","display_name":"Epidemiology"},"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/T10685","display_name":"Viral-associated cancers and disorders","score":0.009700000286102295,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/primary-immunodeficiency","display_name":"primary immunodeficiency","score":0.9089999794960022},{"id":"https://openalex.org/keywords/t-cell-expansion","display_name":"T cell expansion","score":0.7210000157356262},{"id":"https://openalex.org/keywords/activation-induced-cell-death","display_name":"activation-induced cell death","score":0.875},{"id":"https://openalex.org/keywords/dna-helicase","display_name":"DNA helicase","score":0.8939999938011169},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8889999985694885},{"id":"https://openalex.org/keywords/severe-combined-immunodeficiency","display_name":"severe combined immunodeficiency","score":0.875},{"id":"https://openalex.org/keywords/cytotoxic-t-lymphocyte-response","display_name":"cytotoxic T lymphocyte response","score":0.781000018119812}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.38629579544067383},{"id":"https://openalex.org/C159047783","wikidata":"https://www.wikidata.org/wiki/Q7215","display_name":"Virology","level":1,"score":0.3852000832557678}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.70962/cis2025abstract.93","doi":"https://doi.org/10.70962/cis2025abstract.93","is_oa":true,"landing_page_url":"https://doi.org/10.70962/cis2025abstract.93","pdf_url":null,"source":{"id":"https://openalex.org/S5407048701","display_name":"Journal of Human Immunity","issn_l":"3065-8993","issn":["3065-8993"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","jufo-1","ki-jl-1"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Immunity","raw_type":"journal-article"},{"id":"pmh:oai:HAL:hal-04790810v1","doi":null,"is_oa":false,"landing_page_url":"https://hal.science/hal-04790810","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL (Le Centre pour la Communication Scientifique Directe)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1294671590","host_organization_name":"Centre National de la Recherche Scientifique","host_organization_lineage":["https://openalex.org/I1294671590"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ESID 2024-21st Biennal Meeting of The European Society for Immunodeficiencies, Oct 2024, Marseille, France","raw_type":"info:eu-repo/semantics/conferenceObject"}],"best_oa_location":{"id":"doi:10.70962/cis2025abstract.93","doi":"https://doi.org/10.70962/cis2025abstract.93","is_oa":true,"landing_page_url":"https://doi.org/10.70962/cis2025abstract.93","pdf_url":null,"source":{"id":"https://openalex.org/S5407048701","display_name":"Journal of Human Immunity","issn_l":"3065-8993","issn":["3065-8993"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","jufo-1","ki-jl-1"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Immunity","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.98580002784729,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/2","score":0.49000000953674316,"display_name":"Zero hunger"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2899084033","https://openalex.org/W2748952813","https://openalex.org/W3031052312","https://openalex.org/W4389568370","https://openalex.org/W3032375762","https://openalex.org/W1995515455","https://openalex.org/W2080531066","https://openalex.org/W3108674512","https://openalex.org/W1506200166","https://openalex.org/W1489783725"],"abstract_inverted_index":{"Topic":[0],"Novel":[1],"Genetic":[2],"Etiologies":[3],"of":[4,75,162,180,220],"PIDs":[5],"Preliminary":[6],"data":[7],"from":[8,235],"this":[9],"work":[10],"were":[11,98,111,167],"accepted":[12],"and":[13,46,93,123,139,158,191,244,251,268,276,292],"presented":[14],"as":[15],"an":[16,32,52,159,252,277,289,293],"oral":[17],"communication":[18],"at":[19],"the":[20,221,297],"21st":[21],"biennial":[22],"ESID":[23],"meeting":[24],"(October":[25],"2024).":[26],"Background":[27],"Epstein-Barr":[28],"virus":[29],"(EBV)":[30],"is":[31,130,203,239,303],"oncogenic":[33],"virus.":[34],"Mostly":[35],"asymptomatic,":[36],"primary":[37],"infection":[38],"may":[39,311],"be":[40,120],"complicated":[41,76],"by":[42,82,100],"nonmalignant,":[43],"malignant":[44],"proliferations,":[45],"hemophagocytic":[47],"lymphohistiocytosis.":[48],"Infection":[49],"resolution":[50],"requires":[51],"appropriate":[53],"cytotoxic":[54],"T":[55,62,84,208,233,245,258,283,307],"cell":[56,63,85,259,271,308],"response,":[57],"which":[58,78],"depends":[59],"on":[60],"sustained":[61],"expansion.":[64,86],"Several":[65],"inherited":[66],"EBV":[67,313],"susceptibilities":[68],"are":[69,79,117],"associated":[70,155,304],"with":[71,90,95,143,150,156,170,305],"a":[72,131,181,192,225,248,270],"high":[73],"risk":[74,161],"infection,":[77],"often":[80],"characterized":[81],"defective":[83],"Methods":[87],"Four":[88],"patients":[89,222],"EBV-related":[91,174],"diseases":[92],"one":[94],"severe":[96,188,193],"CMV":[97],"analyzed":[99],"whole-exome":[101],"sequencing,":[102],"in":[103,113,125,135,185,205,224,281,288,296,315],"whom":[104],"six":[105],"deleterious":[106],"biallelic":[107],"compound":[108],"heterozygous":[109],"variants":[110,145,219],"identified":[112],"RECQL4.":[114],"These":[115],"mutations":[116],"predicted":[118],"to":[119],"highly":[121],"damaging":[122],"absent":[124,228],"exome":[126],"public":[127],"databases.":[128],"RECQL4":[129,144,186,202,218,229,237,264,286,301],"DNA":[132,136,140],"helicase":[133],"involved":[134],"replication":[137],"initiation":[138],"repair.":[141],"Patients":[142],"have":[146],"been":[147],"previously":[148],"reported":[149,169],"several":[151],"autosomal":[152],"recessive":[153],"syndromes":[154],"poikiloderma":[157],"increased":[160,253,278,294],"cancer.":[163],"Few":[164],"rare":[165],"cases":[166],"also":[168],"immunodeficiency":[171,190],"but":[172],"no":[173],"diseases.":[175],"An":[176],"additional":[177],"patient":[178],"carrier":[179],"homozygous":[182],"null":[183],"variant":[184],"presenting":[187],"combined":[189],"RECQL4-related":[194],"syndrome":[195],"was":[196],"studied.":[197],"Results":[198],"We":[199],"showed":[200],"that":[201,310],"upregulated":[204],"activated":[206,232],"control":[207,282],"cells":[209,234,246],"upon":[210],"TCR-CD3":[211],"activation.":[212],"In":[213,231,256],"HEK":[214],"cells,":[215,284],"transiently":[216],"overexpressed":[217],"result":[223],"reduced":[226,241],"or":[227,242],"expression.":[230],"patients,":[236],"expression":[238,267],"strongly":[240],"absent,":[243],"exhibit":[247],"proliferation":[249,274],"defect":[250],"activation-induced":[254],"apoptosis.":[255,279],"Jurkat":[257],"line,":[260],"3":[261],"different":[262],"shRNA-targeting":[263],"decrease":[265],"its":[266],"induce":[269],"cycle":[272],"blockade,":[273],"arrest,":[275],"Similarly":[280],"silencing":[285],"results":[287],"expansion":[290,309],"disadvantage":[291],"apoptosis":[295],"infected":[298],"cells.":[299],"Conclusion":[300],"deficiency":[302],"impaired":[306],"underlie":[312],"susceptibility":[314],"patients.":[316]},"counts_by_year":[],"updated_date":"2026-10-12T09:40:04.860316","created_date":"2025-10-10T00:00:00"}