{"id":"https://openalex.org/W7220787348","doi":null,"title":"Immune dysregulation in children with Down Syndrome and Janus Kinase inhibition as targeted therapy.","display_name":"Immune dysregulation in children with Down Syndrome and Janus Kinase inhibition as targeted therapy.","publication_year":2023,"publication_date":"2023-09-13","ids":{"openalex":"https://openalex.org/W7220787348"},"language":"es","primary_location":{"id":"pmh:oai:revistas.upo.es:article/8413","doi":null,"is_oa":true,"landing_page_url":"https://www.upo.es/revistas/index.php/index/article/view/8413","pdf_url":null,"source":{"id":"https://openalex.org/S4306504433","display_name":"Biosaia: Revista de los m\u00e1steres de Biotecnolog\u00eda Sanitaria y Biotecnolog\u00eda Ambiental, Industrial y Alimentaria","issn_l":"2254-3821","issn":["2254-3821"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310321180","host_organization_name":"Pablo de Olavide University","host_organization_lineage":["https://openalex.org/P4310321180"],"host_organization_lineage_names":["Pablo de Olavide University"],"type":"journal"},"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2254-3821","raw_type":"info:eu-repo/semantics/article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://www.upo.es/revistas/index.php/index/article/view/8413","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5125555422","display_name":"Paula Gilabert-Prieto","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Gilabert Prieto, Paula","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023836584","display_name":"Pilar Blanco-Lobo","orcid":"https://orcid.org/0000-0003-1893-8198","observed_orcids":["https://orcid.org/0000-0003-1893-8198"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Blanco Lobo,  Pilar","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5157691693","display_name":"Olaf Olaf","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Olaf,  Olaf","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"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":0.30779923,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"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":0.7768999934196472,"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":0.7768999934196472,"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/T11015","display_name":"Down syndrome and intellectual disability research","score":0.17980000376701355,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"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/T11668","display_name":"interferon and immune responses","score":0.019099999219179153,"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/down-syndrome","display_name":"Down syndrome","score":0.9929999709129333},{"id":"https://openalex.org/keywords/immune-dysregulation","display_name":"immune dysregulation","score":0.8479999899864197},{"id":"https://openalex.org/keywords/janus-kinase-inhibition","display_name":"Janus kinase inhibition","score":0.7910000085830688},{"id":"https://openalex.org/keywords/baricitinib","display_name":"baricitinib","score":1.0},{"id":"https://openalex.org/keywords/stat1-gain-of-function","display_name":"STAT1 gain-of-function","score":0.9789999723434448},{"id":"https://openalex.org/keywords/ifnar1","display_name":"IFNAR1","score":0.6650000214576721},{"id":"https://openalex.org/keywords/ifnar2","display_name":"IFNAR2","score":0.9909999966621399},{"id":"https://openalex.org/keywords/cd14-monocytes","display_name":"CD14+ monocytes","score":0.7059999704360962},{"id":"https://openalex.org/keywords/cd3-t-cells","display_name":"CD3+ T cells","score":0.9039999842643738},{"id":"https://openalex.org/keywords/cxcl10","display_name":"CXCL10","score":0.7289999723434448},{"id":"https://openalex.org/keywords/socs1","display_name":"SOCS1","score":0.9850000143051147},{"id":"https://openalex.org/keywords/pd-l1","display_name":"PD-L1","score":1.0}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6912999749183655},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.6578999757766724},{"id":"https://openalex.org/C2780194698","wikidata":"https://www.wikidata.org/wiki/Q6005429","display_name":"Immune dysregulation","level":3,"score":0.5813000202178955},{"id":"https://openalex.org/C2779954681","wikidata":"https://www.wikidata.org/wiki/Q47715","display_name":"Down syndrome","level":2,"score":0.5356000065803528},{"id":"https://openalex.org/C112392421","wikidata":"https://www.wikidata.org/wiki/Q903451","display_name":"Janus kinase","level":3,"score":0.4925999939441681},{"id":"https://openalex.org/C2779019163","wikidata":"https://www.wikidata.org/wiki/Q3043160","display_name":"Primary immunodeficiency","level":3,"score":0.48080000281333923},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.47200000286102295},{"id":"https://openalex.org/C2777003663","wikidata":"https://www.wikidata.org/wiki/Q14912030","display_name":"STAT1","level":3,"score":0.44600000977516174},{"id":"https://openalex.org/C2776178377","wikidata":"https://www.wikidata.org/wiki/Q188269","display_name":"Interferon","level":2,"score":0.4189999997615814},{"id":"https://openalex.org/C188280979","wikidata":"https://www.wikidata.org/wiki/Q911125","display_name":"Human leukocyte antigen","level":3,"score":0.3946000039577484},{"id":"https://openalex.org/C130523297","wikidata":"https://www.wikidata.org/wiki/Q14914487","display_name":"Tyrosine kinase 2","level":5,"score":0.38659998774528503},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.3628999888896942},{"id":"https://openalex.org/C2909179924","wikidata":"https://www.wikidata.org/wiki/Q6046488","display_name":"Alpha interferon","level":3,"score":0.3465000092983246},{"id":"https://openalex.org/C2778513237","wikidata":"https://www.wikidata.org/wiki/Q419553","display_name":"CD14","level":3,"score":0.33629998564720154},{"id":"https://openalex.org/C2777736865","wikidata":"https://www.wikidata.org/wiki/Q17915111","display_name":"DYRK1A","level":3,"score":0.30730000138282776},{"id":"https://openalex.org/C2778908642","wikidata":"https://www.wikidata.org/wiki/Q200779","display_name":"Genetic disorder","level":3,"score":0.2980000078678131},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.29350000619888306},{"id":"https://openalex.org/C2776229224","wikidata":"https://www.wikidata.org/wiki/Q844903","display_name":"Trisomy","level":2,"score":0.2831999957561493},{"id":"https://openalex.org/C137555145","wikidata":"https://www.wikidata.org/wiki/Q753218","display_name":"Chromosome 21","level":4,"score":0.2777999937534332},{"id":"https://openalex.org/C159654299","wikidata":"https://www.wikidata.org/wiki/Q79460","display_name":"Antibody","level":2,"score":0.2728999853134155},{"id":"https://openalex.org/C67636389","wikidata":"https://www.wikidata.org/wiki/Q784237","display_name":"Genetic predisposition","level":3,"score":0.2727999985218048},{"id":"https://openalex.org/C176290653","wikidata":"https://www.wikidata.org/wiki/Q21114013","display_name":"CD33","level":4,"score":0.2718999981880188},{"id":"https://openalex.org/C32465701","wikidata":"https://www.wikidata.org/wiki/Q14914514","display_name":"Janus kinase 2","level":3,"score":0.2687000036239624},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.26660001277923584},{"id":"https://openalex.org/C184235292","wikidata":"https://www.wikidata.org/wiki/Q421851","display_name":"Kinase","level":2,"score":0.26570001244544983},{"id":"https://openalex.org/C2778923194","wikidata":"https://www.wikidata.org/wiki/Q14912019","display_name":"STAT3","level":3,"score":0.2644999921321869},{"id":"https://openalex.org/C2780841837","wikidata":"https://www.wikidata.org/wiki/Q24741149","display_name":"Interferon gamma","level":3,"score":0.26249998807907104},{"id":"https://openalex.org/C2910905871","wikidata":"https://www.wikidata.org/wiki/Q641307","display_name":"Immunodeficiency Syndrome","level":4,"score":0.2621999979019165},{"id":"https://openalex.org/C48632299","wikidata":"https://www.wikidata.org/wiki/Q68581","display_name":"Citrullination","level":5,"score":0.2597000002861023},{"id":"https://openalex.org/C553184892","wikidata":"https://www.wikidata.org/wiki/Q1141429","display_name":"Flow cytometry","level":2,"score":0.2563000023365021},{"id":"https://openalex.org/C2777607303","wikidata":"https://www.wikidata.org/wiki/Q641307","display_name":"Immunodeficiency","level":3,"score":0.2549000084400177},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.25360000133514404},{"id":"https://openalex.org/C90059517","wikidata":"https://www.wikidata.org/wiki/Q423572","display_name":"Bruton's tyrosine kinase","level":4,"score":0.2535000145435333},{"id":"https://openalex.org/C2910439992","wikidata":"https://www.wikidata.org/wiki/Q620760","display_name":"Postural Orthostatic Tachycardia Syndrome","level":4,"score":0.25220000743865967},{"id":"https://openalex.org/C2780237676","wikidata":"https://www.wikidata.org/wiki/Q18052115","display_name":"BTLA","level":4,"score":0.2515999972820282}],"mesh":[],"locations_count":1,"locations":[{"id":"pmh:oai:revistas.upo.es:article/8413","doi":null,"is_oa":true,"landing_page_url":"https://www.upo.es/revistas/index.php/index/article/view/8413","pdf_url":null,"source":{"id":"https://openalex.org/S4306504433","display_name":"Biosaia: Revista de los m\u00e1steres de Biotecnolog\u00eda Sanitaria y Biotecnolog\u00eda Ambiental, Industrial y Alimentaria","issn_l":"2254-3821","issn":["2254-3821"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310321180","host_organization_name":"Pablo de Olavide University","host_organization_lineage":["https://openalex.org/P4310321180"],"host_organization_lineage_names":["Pablo de Olavide University"],"type":"journal"},"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2254-3821","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"pmh:oai:revistas.upo.es:article/8413","doi":null,"is_oa":true,"landing_page_url":"https://www.upo.es/revistas/index.php/index/article/view/8413","pdf_url":null,"source":{"id":"https://openalex.org/S4306504433","display_name":"Biosaia: Revista de los m\u00e1steres de Biotecnolog\u00eda Sanitaria y Biotecnolog\u00eda Ambiental, Industrial y Alimentaria","issn_l":"2254-3821","issn":["2254-3821"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310321180","host_organization_name":"Pablo de Olavide University","host_organization_lineage":["https://openalex.org/P4310321180"],"host_organization_lineage_names":["Pablo de Olavide University"],"type":"journal"},"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2254-3821","raw_type":"info:eu-repo/semantics/article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":1.0}],"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/W4409553374","https://openalex.org/W4405943484","https://openalex.org/W7159947779","https://openalex.org/W2932131298","https://openalex.org/W7011506200","https://openalex.org/W7164162878","https://openalex.org/W4286110748","https://openalex.org/W4382361750","https://openalex.org/W7116760124","https://openalex.org/W7168371772"],"abstract_inverted_index":{"Down":[0,175],"Syndrome":[1,176],"(DS),":[2],"also":[3,141,320],"known":[4],"as":[5,67,69,86,186],"Trisomy":[6],"21,":[7],"is":[8,24,38,47,105],"a":[9,70,162,187,192,345,350,355],"genetic":[10,30],"disorder":[11],"that":[12,95,322],"results":[13],"from":[14,218],"partial":[15],"or":[16],"complete":[17],"third":[18],"copy":[19],"of":[20,26,42,64,121,133,148,195,236,264,288,304,357],"chromosome":[21,103],"21.":[22],"It":[23,37],"one":[25],"the":[27,39,112,206,234],"most":[28],"common":[29],"disorders":[31],"worldwide":[32],"affecting":[33],"6":[34],"million":[35],"individuals.":[36],"leading":[40],"cause":[41],"lifelong":[43],"intellectual":[44],"disability":[45],"and":[46,57,82,131,145,150,172,201,224,250,261,268,290,306,315],"often":[48],"associated":[49,79],"with":[50,80,127,129,198,211,230,257,359],"other":[51],"clinical":[52,125,202],"alterations":[53],"[1],":[54],"including":[55],"cardiac":[56],"gastrointestinal":[58],"anatomic":[59],"defects,":[60],"an":[61,107,284],"increased":[62,146,285,302],"incidence":[63],"Alzheimer's":[65],"disease":[66],"well":[68],"heightened":[71],"vulnerability":[72],"to":[73,77,110,205,275,294,311,337],"infections.DS":[74],"has":[75,160,177],"shown":[76],"be":[78],"inflammatory":[81,360],"autoimmune":[83],"processes":[84],"such":[85],"periodontitis,":[87],"alopecia,":[88],"dermatitis":[89],"among":[90],"others":[91],"[2].":[92],"The":[93],"fact":[94],"4/6":[96],"Interferon":[97],"(IFN)":[98],"receptors":[99],"are":[100],"localized":[101],"on":[102],"21":[104],"currently":[106],"appealing":[108],"hypotheses":[109],"explain":[111],"observed":[113,321],"IFN":[114,143,199,231,258,331],"hypersensitivity":[115,144,200,332],"in":[116,174,209,233,281,313,333],"DS":[117,122,196,222,282,299,334,358],"population.":[118],"A":[119],"subset":[120],"individuals":[123,223,283,300],"shares":[124],"manifestations":[126,203],"patients":[128,197,210,297],"Signal-Transducer":[130],"Activator":[132],"Transcription":[134],"1":[135],"gain-of-function":[136],"(STAT1":[137],"GOF)":[138],"patients,":[139,221],"who":[140],"present":[142,301],"levels":[147,263,303],"STAT1":[149,166,212,219,249,295,305,338],"its":[151,170],"phosphorylated":[152],"form":[153],"(pSTAT1)":[154],"[3].":[155],"Janus":[156],"Kinase":[157],"(JAK)":[158],"inhibition":[159,326],"been":[161,179],"successful":[163],"treatment":[164],"for":[165,191,354],"GOF":[167,220,296,339],"patients.":[168],"However,":[169],"potential":[171],"effectiveness":[173],"not":[178],"explored":[180],"yet.":[181],"We":[182,319],"here":[183],"propose":[184],"Baricitinib":[185,344],"targeted":[188,352],"therapeutic":[189],"approach":[190],"selected":[193],"subgroup":[194,356],"similar":[204,293,336],"ones":[207],"seen":[208],"GOF.":[213],"Whole":[214],"blood":[215],"(WB)":[216],"obtained":[217],"healthy":[225],"controls":[226],"(HC)":[227],"was":[228,240,327],"stimulated":[229,256],"\u03b1lpha/gamma":[232],"presence":[235],"Baricitinib.":[237],"Flow":[238],"cytometry":[239],"performed":[241],"using":[242],"specific":[243],"antibodies":[244],"against":[245],"CD14":[246,314],"(monocytes),":[247],"CD3,":[248],"pSTAT1.":[251],"In":[252],"parallel,":[253],"PBMCs":[254],"were":[255,270],"alpha/gamma":[259],",":[260],"transcription":[262],"STAT1,":[265],"CxCL10,":[266],"SOCS1":[267],"PD-L1":[269],"evaluated":[271],"by":[272],"RT-PCR.":[273],"According":[274],"previous":[276],"studies":[277],"[3],":[278],"we":[279],"found":[280],"gene":[286],"dosage":[287],"IFNaR1":[289],"IFNaR2.":[291],"Furthermore,":[292],"some":[298],"pSTAT1":[307],"after":[308],"stimulation":[309],"compared":[310],"HC":[312],"CD3":[316],"T":[317],"cells.":[318,341],"ex":[323],"vivo":[324],"JAK":[325],"effective":[328],"reducing":[329],"this":[330],"cells":[335],"patients\u2019":[340],"Taken":[342],"together,":[343],"JAK1/2":[346],"inhibitor":[347],"might":[348],"represent":[349],"promising":[351],"therapy":[353],"and/or":[361],"infectious":[362],"manifestations.":[363]},"counts_by_year":[],"updated_date":"2026-10-12T09:40:04.860316","created_date":"2026-10-07T00:00:00"}
