{"id":"https://openalex.org/W4415501348","doi":"https://doi.org/10.1038/s44321-025-00317-0","title":"In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation","display_name":"In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation","publication_year":2025,"publication_date":"2025-10-24","ids":{"openalex":"https://openalex.org/W4415501348","doi":"https://doi.org/10.1038/s44321-025-00317-0","pmid":"https://pubmed.ncbi.nlm.nih.gov/41136770","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/12686074"},"language":"en","primary_location":{"id":"doi:10.1038/s44321-025-00317-0","doi":"https://doi.org/10.1038/s44321-025-00317-0","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s44321-025-00317-0","pdf_url":null,"source":{"id":"https://openalex.org/S163075119","display_name":"EMBO Molecular Medicine","issn_l":"1757-4676","issn":["1757-4676","1757-4684"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"EMBO Molecular Medicine","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1038/s44321-025-00317-0","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5027686950","display_name":"Marie Jeanpierre","orcid":"https://orcid.org/0009-0009-2758-6180","observed_orcids":["https://orcid.org/0009-0009-2758-6180"]},"institutions":[{"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/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"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/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Marie Jeanpierre","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France"],"raw_orcid":"https://orcid.org/0009-0009-2758-6180","affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087921057","display_name":"Orianne Debeaupuis","orcid":"https://orcid.org/0000-0002-1393-3980","observed_orcids":["https://orcid.org/0000-0002-1393-3980"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"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/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I2746051580","display_name":"Universit\u00e9 Paris Sciences et Lettres","ror":"https://ror.org/013cjyk83","country_code":"FR","type":"education","lineage":["https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I4210160133","display_name":"Physique des Cellules et Cancers","ror":"https://ror.org/055ss7a31","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210160133","https://openalex.org/I80043"]},{"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/I4210100892","https://openalex.org/I4210165077"]},{"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":true,"raw_author_name":"Orianne Debeaupuis","raw_affiliation_strings":["Universit\u00e9 PSL, Universit\u00e9 Sorbonne, CNRS UMR168, Institut Curie, Paris, France","Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France"],"raw_orcid":"https://orcid.org/0000-0002-1393-3980","affiliations":[{"raw_affiliation_string":"Universit\u00e9 PSL, Universit\u00e9 Sorbonne, CNRS UMR168, Institut Curie, Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I2746051580","https://openalex.org/I4210160133","https://openalex.org/I80043"]},{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007933379","display_name":"Camille Brunaud","orcid":"https://orcid.org/0009-0005-1130-459X","observed_orcids":["https://orcid.org/0009-0005-1130-459X"]},"institutions":[{"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/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"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/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Camille Brunaud","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France"],"raw_orcid":"https://orcid.org/0009-0005-1130-459X","affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081140369","display_name":"Judith Yancoski","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799873577","display_name":"Garrahan Hospital","ror":"https://ror.org/051mda743","country_code":"AR","type":"healthcare","lineage":["https://openalex.org/I2799873577"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Judith Yancoski","raw_affiliation_strings":["Molecular Immunology, Hospital de Pediatria J P Garrahan, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Immunology, Hospital de Pediatria J P Garrahan, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I2799873577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012522041","display_name":"Quentin Riller","orcid":"https://orcid.org/0000-0003-3323-0235","observed_orcids":["https://orcid.org/0000-0003-3323-0235"]},"institutions":[{"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/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"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/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Quentin Riller","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France"],"raw_orcid":"https://orcid.org/0000-0003-3323-0235","affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027268725","display_name":"J\u00e9r\u00f4me Hadjadj","orcid":"https://orcid.org/0000-0002-2520-3272","observed_orcids":["https://orcid.org/0000-0002-2520-3272"]},"institutions":[{"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/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"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"]},{"id":"https://openalex.org/I4210102928","display_name":"H\u00f4pital Saint-Antoine","ror":"https://ror.org/01875pg84","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210102928"]},{"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/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jerome Hadjadj","raw_affiliation_strings":["Sorbonne Universit\u00e9, service de m\u00e9decine interne, H\u00f4pital Saint-Antoine, AP-HP, Paris, France","Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sorbonne Universit\u00e9, service de m\u00e9decine interne, H\u00f4pital Saint-Antoine, AP-HP, Paris, France","institution_ids":["https://openalex.org/I39804081","https://openalex.org/I4210097159","https://openalex.org/I4210102928"]},{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002529101","display_name":"Marie\u2010Claude Stolzenberg","orcid":"https://orcid.org/0000-0001-8026-0360","observed_orcids":["https://orcid.org/0000-0001-8026-0360"]},"institutions":[{"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/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"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/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Marie-Claude Stolzenberg","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104290409","display_name":"Giselle Villarreal","orcid":"https://orcid.org/0009-0003-5502-1917","observed_orcids":["https://orcid.org/0009-0003-5502-1917"]},"institutions":[{"id":"https://openalex.org/I2799873577","display_name":"Garrahan Hospital","ror":"https://ror.org/051mda743","country_code":"AR","type":"healthcare","lineage":["https://openalex.org/I2799873577"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Giselle Villarreal","raw_affiliation_strings":["Clinical Rheumatology, Hospital de Pediatria J P Garrahan, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Rheumatology, Hospital de Pediatria J P Garrahan, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I2799873577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050793478","display_name":"Mar\u00eda Martha Katsicas","orcid":"https://orcid.org/0000-0002-3898-7555","observed_orcids":["https://orcid.org/0000-0002-3898-7555"]},"institutions":[{"id":"https://openalex.org/I2799873577","display_name":"Garrahan Hospital","ror":"https://ror.org/051mda743","country_code":"AR","type":"healthcare","lineage":["https://openalex.org/I2799873577"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Marie Martha Katsicas","raw_affiliation_strings":["Clinical Rheumatology, Hospital de Pediatria J P Garrahan, Buenos Aires, Argentina"],"raw_orcid":"https://orcid.org/0000-0002-3898-7555","affiliations":[{"raw_affiliation_string":"Clinical Rheumatology, Hospital de Pediatria J P Garrahan, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I2799873577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085488754","display_name":"Mariana Villa","orcid":"https://orcid.org/0000-0002-3413-7721","observed_orcids":["https://orcid.org/0000-0002-3413-7721"]},"institutions":[{"id":"https://openalex.org/I2799873577","display_name":"Garrahan Hospital","ror":"https://ror.org/051mda743","country_code":"AR","type":"healthcare","lineage":["https://openalex.org/I2799873577"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Mariana Villa","raw_affiliation_strings":["Clinical Immunology Department, Hospital JP Garrahan, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Immunology Department, Hospital JP Garrahan, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I2799873577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046237034","display_name":"Jo\u00e3o Farela Neves","orcid":"https://orcid.org/0000-0003-4740-6094","observed_orcids":["https://orcid.org/0000-0003-4740-6094"]},"institutions":[{"id":"https://openalex.org/I4210095157","display_name":"Unidade Local de Sa\u00fade de S\u00e3o Jos\u00e9","ror":"https://ror.org/00k6r3f30","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I4210095157"]},{"id":"https://openalex.org/I4210115157","display_name":"Hospital de Dona Estef\u00e2nia","ror":"https://ror.org/01jhsfg10","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I4210095157","https://openalex.org/I4210115157"]},{"id":"https://openalex.org/I4405258683","display_name":"Comprehensive Health Research Centre","ror":"https://ror.org/012bp0978","country_code":"PT","type":"education","lineage":["https://openalex.org/I4405258683","https://openalex.org/I83558840"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Joao Farela Neves","raw_affiliation_strings":["Comprehensive Health Research Center, CHRC, Nova Medical School, Lisbon, Portugal","Primary Immunodeficiencies Unit, Hospital Dona Estefania, Unidade Local de Saude de S\u00e3o Jose, Lisbon, Portugal"],"raw_orcid":"https://orcid.org/0000-0003-4740-6094","affiliations":[{"raw_affiliation_string":"Comprehensive Health Research Center, CHRC, Nova Medical School, Lisbon, Portugal","institution_ids":["https://openalex.org/I4405258683"]},{"raw_affiliation_string":"Primary Immunodeficiencies Unit, Hospital Dona Estefania, Unidade Local de Saude de S\u00e3o Jose, Lisbon, Portugal","institution_ids":["https://openalex.org/I4210095157","https://openalex.org/I4210115157"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113285647","display_name":"Jean\u2010Louis Stephan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210157006","display_name":"Centre Hospitalier Universitaire de Saint-\u00c9tienne","ror":"https://ror.org/04pn6vp43","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210157006"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jean-Louis Stephan","raw_affiliation_strings":["CHU de Saint-Etienne H\u00f4pital Nord, Saint-Etienne, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU de Saint-Etienne H\u00f4pital Nord, Saint-Etienne, France","institution_ids":["https://openalex.org/I4210157006"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037930312","display_name":"C\u00e9dric L\u00e9onard","orcid":"https://orcid.org/0009-0004-2252-2173","observed_orcids":["https://orcid.org/0009-0004-2252-2173"]},"institutions":[{"id":"https://openalex.org/I4210120975","display_name":"H\u00f4pital Cardiologique du Haut-L\u00e9v\u00eaque","ror":"https://ror.org/02bf3a828","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018323443","https://openalex.org/I4210120975"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C\u00e9dric L\u00e9onard","raw_affiliation_strings":["Centre de Reference des Maladies auto-immunes Syst\u00e9miques Rares de l'Est et du Sud-Ouest, H\u00f4pital du Haut-Leveque, Pessac, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre de Reference des Maladies auto-immunes Syst\u00e9miques Rares de l'Est et du Sud-Ouest, H\u00f4pital du Haut-Leveque, Pessac, France","institution_ids":["https://openalex.org/I4210120975"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075236193","display_name":"Estibaliz Lazaro","orcid":"https://orcid.org/0000-0002-4206-7399","observed_orcids":["https://orcid.org/0000-0002-4206-7399"]},"institutions":[{"id":"https://openalex.org/I4210120975","display_name":"H\u00f4pital Cardiologique du Haut-L\u00e9v\u00eaque","ror":"https://ror.org/02bf3a828","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018323443","https://openalex.org/I4210120975"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Estibaliz Lazaro","raw_affiliation_strings":["Centre de Reference des Maladies auto-immunes Syst\u00e9miques Rares de l'Est et du Sud-Ouest, H\u00f4pital du Haut-Leveque, Pessac, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre de Reference des Maladies auto-immunes Syst\u00e9miques Rares de l'Est et du Sud-Ouest, H\u00f4pital du Haut-Leveque, Pessac, France","institution_ids":["https://openalex.org/I4210120975"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005178337","display_name":"Jonathan Ciron","orcid":"https://orcid.org/0000-0002-3386-6308","observed_orcids":["https://orcid.org/0000-0002-3386-6308"]},"institutions":[{"id":"https://openalex.org/I3019448017","display_name":"Centre Hospitalier Universitaire de Toulouse","ror":"https://ror.org/017h5q109","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3019448017"]},{"id":"https://openalex.org/I4210138343","display_name":"H\u00f4pital Purpan","ror":"https://ror.org/03vcx3f97","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3019448017","https://openalex.org/I4210138343"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jonathan Ciron","raw_affiliation_strings":["CHU de Toulouse, D\u00e9partement de Neurologie, P\u00f4le Neurosciences, H\u00f4pital Purpan, Toulouse, France"],"raw_orcid":"https://orcid.org/0000-0002-3386-6308","affiliations":[{"raw_affiliation_string":"CHU de Toulouse, D\u00e9partement de Neurologie, P\u00f4le Neurosciences, H\u00f4pital Purpan, Toulouse, France","institution_ids":["https://openalex.org/I3019448017","https://openalex.org/I4210138343"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031085045","display_name":"Charlotte Boussard","orcid":"https://orcid.org/0000-0002-1237-8321","observed_orcids":["https://orcid.org/0000-0002-1237-8321"]},"institutions":[{"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/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"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/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Charlotte Boussard","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003432626","display_name":"Fabienne Mazerolles","orcid":"https://orcid.org/0000-0002-5991-614X","observed_orcids":["https://orcid.org/0000-0002-5991-614X"]},"institutions":[{"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/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"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/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Fabienne Mazerolles","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048885844","display_name":"Aude Mag\u00e9rus","orcid":"https://orcid.org/0000-0001-7365-699X","observed_orcids":["https://orcid.org/0000-0001-7365-699X"]},"institutions":[{"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/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"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/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Aude Magerus","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071100465","display_name":"Olivier Pell\u00e9","orcid":"https://orcid.org/0000-0002-0163-6487","observed_orcids":["https://orcid.org/0000-0002-0163-6487","https://orcid.org/0000-0003-0027-4610"]},"institutions":[{"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/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"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/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Pelle Olivier","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France"],"raw_orcid":"https://orcid.org/0000-0002-0163-6487","affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052408388","display_name":"C\u00e9cile Masson","orcid":"https://orcid.org/0000-0001-7870-7821","observed_orcids":["https://orcid.org/0000-0001-7870-7821"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"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/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"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/I4210100892","https://openalex.org/I4210165077"]},{"id":"https://openalex.org/I4403386587","display_name":"Structure f\u00e9d\u00e9rative de recherche Necker","ror":"https://ror.org/053p5te48","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4403386587"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Cecile Masson","raw_affiliation_strings":["Genomics Core Facility, Institut Imagine-Structure F\u00e9d\u00e9rative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UAR3633, Paris Cite University, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomics Core Facility, Institut Imagine-Structure F\u00e9d\u00e9rative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UAR3633, Paris Cite University, Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077","https://openalex.org/I4403386587"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002404018","display_name":"Yohann Schmitt","orcid":"https://orcid.org/0000-0001-7267-9225","observed_orcids":["https://orcid.org/0000-0001-7267-9225"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"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/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"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/I4210100892","https://openalex.org/I4210165077"]},{"id":"https://openalex.org/I4403386587","display_name":"Structure f\u00e9d\u00e9rative de recherche Necker","ror":"https://ror.org/053p5te48","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4403386587"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Yohann Schmitt","raw_affiliation_strings":["Genomics Core Facility, Institut Imagine-Structure F\u00e9d\u00e9rative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UAR3633, Paris Cite University, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomics Core Facility, Institut Imagine-Structure F\u00e9d\u00e9rative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UAR3633, Paris Cite University, Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077","https://openalex.org/I4403386587"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061787389","display_name":"B\u00e9n\u00e9dicte Hoareau\u2010Coudert","orcid":"https://orcid.org/0000-0002-6575-7085","observed_orcids":["https://orcid.org/0000-0002-6575-7085"]},"institutions":[{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4389425403","display_name":"Production et analyse de donn\u00e9es en sciences de la vie et en sant\u00e9","ror":"https://ror.org/03p2d3k93","country_code":"FR","type":"facility","lineage":["https://openalex.org/I39804081","https://openalex.org/I4389425403"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Benedicte Hoareau","raw_affiliation_strings":["Plateforme de Cytom\u00e9trie (CyPS), US-37 PASS, Sorbonne Universit\u00e9, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Plateforme de Cytom\u00e9trie (CyPS), US-37 PASS, Sorbonne Universit\u00e9, Paris, France","institution_ids":["https://openalex.org/I39804081","https://openalex.org/I4389425403"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060796782","display_name":"Ang\u00e9lique Vinit","orcid":"https://orcid.org/0000-0003-3344-4911","observed_orcids":["https://orcid.org/0000-0003-3344-4911"]},"institutions":[{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4389425403","display_name":"Production et analyse de donn\u00e9es en sciences de la vie et en sant\u00e9","ror":"https://ror.org/03p2d3k93","country_code":"FR","type":"facility","lineage":["https://openalex.org/I39804081","https://openalex.org/I4389425403"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Ang\u00e9lique Vinit","raw_affiliation_strings":["Plateforme de Cytom\u00e9trie (CyPS), US-37 PASS, Sorbonne Universit\u00e9, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Plateforme de Cytom\u00e9trie (CyPS), US-37 PASS, Sorbonne Universit\u00e9, Paris, France","institution_ids":["https://openalex.org/I39804081","https://openalex.org/I4389425403"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006102363","display_name":"B\u00e9n\u00e9dicte Neven","orcid":"https://orcid.org/0000-0001-8941-0935","observed_orcids":["https://orcid.org/0000-0001-8941-0935"]},"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/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"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/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"B\u00e9n\u00e9dicte Neven","raw_affiliation_strings":["Pediatric Immunology-Hematology and Rheumatology Unit, Necker Hospital, Paris, France","Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Immunology-Hematology and Rheumatology Unit, Necker Hospital, Paris, France","institution_ids":["https://openalex.org/I1288880153"]},{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079738832","display_name":"Pierre Quartier","orcid":"https://orcid.org/0000-0002-1769-549X","observed_orcids":["https://orcid.org/0000-0002-1769-549X"]},"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/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"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/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Pierre Quartier","raw_affiliation_strings":["Pediatric Immunology-Hematology and Rheumatology Unit, Necker Hospital, Paris, France","Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Immunology-Hematology and Rheumatology Unit, Necker Hospital, Paris, France","institution_ids":["https://openalex.org/I1288880153"]},{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086939392","display_name":"Herv\u00e9 Isambert","orcid":"https://orcid.org/0000-0001-9638-8545","observed_orcids":["https://orcid.org/0000-0001-9638-8545"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I2746051580","display_name":"Universit\u00e9 Paris Sciences et Lettres","ror":"https://ror.org/013cjyk83","country_code":"FR","type":"education","lineage":["https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I4210160133","display_name":"Physique des Cellules et Cancers","ror":"https://ror.org/055ss7a31","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210160133","https://openalex.org/I80043"]},{"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":"Herve Isambert","raw_affiliation_strings":["Universit\u00e9 PSL, Universit\u00e9 Sorbonne, CNRS UMR168, Institut Curie, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 PSL, Universit\u00e9 Sorbonne, CNRS UMR168, Institut Curie, Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I2746051580","https://openalex.org/I4210160133","https://openalex.org/I80043"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019430815","display_name":"Mat\u00edas Oleastro","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799873577","display_name":"Garrahan Hospital","ror":"https://ror.org/051mda743","country_code":"AR","type":"healthcare","lineage":["https://openalex.org/I2799873577"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Mat\u00edas Oleastro","raw_affiliation_strings":["Clinical Immunology Department, Hospital JP Garrahan, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Immunology Department, Hospital JP Garrahan, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I2799873577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019884208","display_name":"Silvia Danielian","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799873577","display_name":"Garrahan Hospital","ror":"https://ror.org/051mda743","country_code":"AR","type":"healthcare","lineage":["https://openalex.org/I2799873577"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Silvia Danielian","raw_affiliation_strings":["Molecular Immunology, Hospital de Pediatria J P Garrahan, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Immunology, Hospital de Pediatria J P Garrahan, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I2799873577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005685737","display_name":"Marianna Parlato","orcid":"https://orcid.org/0000-0002-8750-082X","observed_orcids":["https://orcid.org/0000-0002-8750-082X"]},"institutions":[{"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/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"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/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Marianna Parlato","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France. marianna.parlato@inserm.fr"],"raw_orcid":"https://orcid.org/0000-0002-8750-082X","affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France. marianna.parlato@inserm.fr","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5083186666","display_name":"Fr\u00e9d\u00e9ric Rieux\u2010Laucat","orcid":"https://orcid.org/0000-0001-7858-7866","observed_orcids":["https://orcid.org/0000-0001-7858-7866"]},"institutions":[{"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/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"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/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Frederic Rieux-Laucat","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France. frederic.rieux-laucat@inserm.fr"],"raw_orcid":"https://orcid.org/0000-0001-7858-7866","affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratoire d'immunog\u00e9n\u00e9tique des maladies autoimmunes p\u00e9diatriques, INSERM UMR1163, Paris, France. frederic.rieux-laucat@inserm.fr","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":21,"corresponding_author_ids":["https://openalex.org/A5005685737","https://openalex.org/A5027686950","https://openalex.org/A5083186666","https://openalex.org/A5087921057"],"corresponding_institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I2746051580","https://openalex.org/I4210160133","https://openalex.org/I4210165077","https://openalex.org/I80043"],"apc_list":{"value":7990,"currency":"USD","value_usd":7990},"apc_paid":{"value":7990,"currency":"USD","value_usd":7990},"fwci":1.1012,"has_fulltext":false,"cited_by_count":3,"citation_normalized_percentile":{"value":0.7742939,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":97,"max":98},"biblio":{"volume":"17","issue":"12","first_page":"3275","last_page":"3299"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.9023000001907349,"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":0.9023000001907349,"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/T11503","display_name":"Cytokine Signaling Pathways and Interactions","score":0.07069999724626541,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.01759999990463257,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/jak1","display_name":"JAK1","score":0.9610000252723694},{"id":"https://openalex.org/keywords/gain-of-function-mutations","display_name":"gain-of-function mutations","score":0.7400000095367432},{"id":"https://openalex.org/keywords/primary-immunodeficiency","display_name":"primary immunodeficiency","score":0.859000027179718},{"id":"https://openalex.org/keywords/jak-stat-signaling","display_name":"JAK/STAT signaling","score":0.9309999942779541},{"id":"https://openalex.org/keywords/alphafold2","display_name":"AlphaFold2","score":0.8220000267028809},{"id":"https://openalex.org/keywords/tofacitinib","display_name":"tofacitinib","score":0.7630000114440918},{"id":"https://openalex.org/keywords/interferon-signature","display_name":"interferon signature","score":0.7599999904632568},{"id":"https://openalex.org/keywords/cytokine-levels","display_name":"cytokine levels","score":0.5669999718666077},{"id":"https://openalex.org/keywords/personalized-treatment","display_name":"personalized treatment","score":0.7239999771118164}],"concepts":[{"id":"https://openalex.org/C2775905019","wikidata":"https://www.wikidata.org/wiki/Q192572","display_name":"In silico","level":3,"score":0.7699999809265137},{"id":"https://openalex.org/C2780194698","wikidata":"https://www.wikidata.org/wiki/Q6005429","display_name":"Immune dysregulation","level":3,"score":0.6814000010490417},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.6553999781608582},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.49160000681877136},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4875999987125397},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.4713999927043915},{"id":"https://openalex.org/C2778886723","wikidata":"https://www.wikidata.org/wiki/Q3530324","display_name":"Tofacitinib","level":3,"score":0.4124999940395355},{"id":"https://openalex.org/C97037327","wikidata":"https://www.wikidata.org/wiki/Q5334291","display_name":"Ectopic expression","level":3,"score":0.40290001034736633},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.38830000162124634},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.3686000108718872},{"id":"https://openalex.org/C1491633281","wikidata":"https://www.wikidata.org/wiki/Q7868","display_name":"Cell","level":2,"score":0.36559998989105225},{"id":"https://openalex.org/C2778690821","wikidata":"https://www.wikidata.org/wiki/Q212354","display_name":"Cytokine","level":2,"score":0.34860000014305115},{"id":"https://openalex.org/C2776178377","wikidata":"https://www.wikidata.org/wiki/Q188269","display_name":"Interferon","level":2,"score":0.3400000035762787},{"id":"https://openalex.org/C51785407","wikidata":"https://www.wikidata.org/wiki/Q2627568","display_name":"Effector","level":2,"score":0.3010999858379364},{"id":"https://openalex.org/C14036430","wikidata":"https://www.wikidata.org/wiki/Q3736076","display_name":"Function (biology)","level":2,"score":0.2980000078678131},{"id":"https://openalex.org/C2780130043","wikidata":"https://www.wikidata.org/wiki/Q192360","display_name":"Autoimmunity","level":3,"score":0.28870001435279846},{"id":"https://openalex.org/C2778923194","wikidata":"https://www.wikidata.org/wiki/Q14912019","display_name":"STAT3","level":3,"score":0.2874999940395355},{"id":"https://openalex.org/C62112901","wikidata":"https://www.wikidata.org/wiki/Q189159","display_name":"Cell growth","level":2,"score":0.28690001368522644},{"id":"https://openalex.org/C179185449","wikidata":"https://www.wikidata.org/wiki/Q219699","display_name":"Suppressor","level":3,"score":0.28679999709129333},{"id":"https://openalex.org/C11988809","wikidata":"https://www.wikidata.org/wiki/Q412889","display_name":"Interleukin 6","level":3,"score":0.2775000035762787},{"id":"https://openalex.org/C62478195","wikidata":"https://www.wikidata.org/wiki/Q828130","display_name":"Signal transduction","level":2,"score":0.27320000529289246},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.271699994802475},{"id":"https://openalex.org/C3020204279","wikidata":"https://www.wikidata.org/wiki/Q105590653","display_name":"Gain of function","level":4,"score":0.2696000039577484},{"id":"https://openalex.org/C32220436","wikidata":"https://www.wikidata.org/wiki/Q2072214","display_name":"Personalized medicine","level":2,"score":0.265500009059906},{"id":"https://openalex.org/C2776112149","wikidata":"https://www.wikidata.org/wiki/Q7383611","display_name":"Ruxolitinib","level":4,"score":0.2603999972343445},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2529999911785126},{"id":"https://openalex.org/C145059251","wikidata":"https://www.wikidata.org/wiki/Q310899","display_name":"microRNA","level":3,"score":0.2515999972820282}],"mesh":[{"descriptor_ui":"D003198","descriptor_name":"Computer Simulation","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":"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":"D008958","descriptor_name":"Models, Molecular","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010880","descriptor_name":"Piperidines","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D011743","descriptor_name":"Pyrimidines","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D011758","descriptor_name":"Pyrroles","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D053613","descriptor_name":"Janus Kinase 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D053613","descriptor_name":"Janus Kinase 1","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D053613","descriptor_name":"Janus Kinase 1","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true}],"locations_count":6,"locations":[{"id":"doi:10.1038/s44321-025-00317-0","doi":"https://doi.org/10.1038/s44321-025-00317-0","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s44321-025-00317-0","pdf_url":null,"source":{"id":"https://openalex.org/S163075119","display_name":"EMBO Molecular Medicine","issn_l":"1757-4676","issn":["1757-4676","1757-4684"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"EMBO Molecular Medicine","raw_type":"journal-article"},{"id":"pmid:41136770","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41136770","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":"EMBO molecular medicine","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:12686074","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12686074/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"EMBO Mol Med","raw_type":"Text"},{"id":"pmh:oai:HAL:hal-05402799v1","doi":null,"is_oa":false,"landing_page_url":"https://hal.science/hal-05402799","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"EMBO Molecular Medicine, 2025, 17 (12), pp.3275-3299. ⟨10.1038/s44321-025-00317-0⟩","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:ff8206ee18384be3b0bd546039f77603","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/ff8206ee18384be3b0bd546039f77603","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"EMBO Molecular Medicine, Vol 17, Iss 12, Pp 3275-3299 (2025)","raw_type":"article"},{"id":"pmh:oai:run.unl.pt:10362/198993","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10362/198993","pdf_url":null,"source":{"id":"https://openalex.org/S4306402433","display_name":"Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"journal article"}],"best_oa_location":{"id":"doi:10.1038/s44321-025-00317-0","doi":"https://doi.org/10.1038/s44321-025-00317-0","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s44321-025-00317-0","pdf_url":null,"source":{"id":"https://openalex.org/S163075119","display_name":"EMBO Molecular Medicine","issn_l":"1757-4676","issn":["1757-4676","1757-4684"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"EMBO Molecular Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1128601738","display_name":"Deciphering tolerance breakdown in Immune ThrombocytoPenia (BREAK-TOL)","funder_award_id":"ANR-22-CE15-0047","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G1274726446","display_name":"Autoimmune CyTopenIa: genetics and pathophysiological mechaNism in pediatric Evans Syndrome","funder_award_id":"ANR-18-CE17-0001","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G1608103114","display_name":null,"funder_award_id":"EQU202103012670","funder_id":"https://openalex.org/F4320321589","funder_display_name":"Fondation pour la Recherche M\u00e9dicale"},{"id":"https://openalex.org/G1882671267","display_name":"Lupus multiplex families in the identification of new gene defects with strong phenotypic effects: from gene discovery to gene function","funder_award_id":"ANR-14-CE14-0026","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G2127289158","display_name":"Pathways and moleculaR analysEs to Derive multi-omIC signatures predictive to response to Treatment in JIA","funder_award_id":"ANR-21-CE17-0044","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G250961418","display_name":null,"funder_award_id":"ANR-10-IAHU- 01","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G2746293877","display_name":"Autoimmunity/inflammation Through Rnaseq Analysis at the single Cell level for Therapeutic Innovation","funder_award_id":"ANR-18-RHUS-0010","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"}],"funders":[{"id":"https://openalex.org/F4320320883","display_name":"Agence Nationale de la Recherche","ror":"https://ror.org/00rbzpz17"},{"id":"https://openalex.org/F4320320893","display_name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","ror":"https://ror.org/02vjkv261"},{"id":"https://openalex.org/F4320321589","display_name":"Fondation pour la Recherche M\u00e9dicale","ror":"https://ror.org/04w6kn183"},{"id":"https://openalex.org/F4320322361","display_name":"Fondation ARC pour la Recherche sur le Cancer","ror":"https://ror.org/0489qz649"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":43,"referenced_works":["https://openalex.org/W1540298277","https://openalex.org/W1966913649","https://openalex.org/W1982385791","https://openalex.org/W1996138383","https://openalex.org/W2017123839","https://openalex.org/W2041881307","https://openalex.org/W2056171219","https://openalex.org/W2064488723","https://openalex.org/W2093804554","https://openalex.org/W2103459989","https://openalex.org/W2106277980","https://openalex.org/W2141682274","https://openalex.org/W2145644903","https://openalex.org/W2149580316","https://openalex.org/W2312859106","https://openalex.org/W2342613314","https://openalex.org/W2575587665","https://openalex.org/W2892635078","https://openalex.org/W3008036448","https://openalex.org/W3018118540","https://openalex.org/W3044591597","https://openalex.org/W3046413528","https://openalex.org/W3081194337","https://openalex.org/W3083008290","https://openalex.org/W3093864054","https://openalex.org/W3216146155","https://openalex.org/W4205184201","https://openalex.org/W4220728834","https://openalex.org/W4223967934","https://openalex.org/W4287218243","https://openalex.org/W4302278284","https://openalex.org/W4305014652","https://openalex.org/W4368356250","https://openalex.org/W4379600237","https://openalex.org/W4381194987","https://openalex.org/W4384407803","https://openalex.org/W4387060050","https://openalex.org/W4391036002","https://openalex.org/W4393421725","https://openalex.org/W4400809994","https://openalex.org/W4405965268","https://openalex.org/W4407046177","https://openalex.org/W4407989332"],"related_works":["https://openalex.org/W3028546912","https://openalex.org/W4393421725","https://openalex.org/W4381194987","https://openalex.org/W4387060050","https://openalex.org/W2575587665","https://openalex.org/W4416420648","https://openalex.org/W3086695113","https://openalex.org/W4381193721","https://openalex.org/W4416842891","https://openalex.org/W4417068362"],"abstract_inverted_index":{"Characterization":[0],"of":[1,12,47,51,76,89,103,108,118,120,129,154,157,169],"primary":[2,80],"immune":[3,21,81],"dysregulations":[4],"and":[5,24,44,59,83,97,122,141,144,165],"deficiency":[6,84],"disorders":[7],"caused":[8],"by":[9],"hyperactivating":[10],"variants":[11,54,61,92,110],"the":[13,42,87,160,167],"JAK/STAT":[14],"pathway":[15],"highlighted":[16],"its":[17],"crucial":[18],"role":[19],"in":[20,94,111,115],"cell":[22,112],"development":[23],"response.":[25],"To":[26],"systematically":[27],"evaluate":[28],"pathogenic":[29,58],"JAK1":[30,53,121,135,155,163],"variants,":[31],"we":[32],"developed":[33],"a":[34,73],"structure-based":[35],"predictive":[36],"framework":[37],"adapting":[38],"AlphaFold2,":[39],"modeling":[40,50],"both":[41],"active":[43],"inactive":[45],"conformations":[46],"JAK1.":[48],"Dual-state":[49],"21,926":[52],"enabled":[55],"discrimination":[56],"between":[57],"benign":[60],"based":[62],"on":[63,66],"their":[64],"impact":[65],"regulatory":[67],"conformation.":[68],"Applying":[69],"this":[70],"approach":[71],"to":[72,86],"large":[74],"cohort":[75],"patients":[77,131],"with":[78,100,132],"suspected":[79],"dysregulation":[82],"led":[85],"identification":[88],"five":[90],"novel":[91],"located":[93],"key":[95],"cis-regulatory":[96],"catalytic":[98],"domains,":[99],"predicted":[101],"gain":[102,156],"function":[104],"activity.":[105],"Ectopic":[106],"expression":[107],"these":[109],"line":[113],"resulted":[114],"varying":[116],"levels":[117,140],"hyperactivation":[119],"multiple":[123],"STATs":[124],"at":[125],"baseline.":[126],"Furthermore,":[127],"treatment":[128],"two":[130],"Tofacitinib":[133],"suppressed":[134],"hyperactivation,":[136],"normalized":[137],"plasma":[138],"cytokine":[139],"interferon":[142],"signatures,":[143],"significantly":[145],"improved":[146],"clinical":[147,161],"symptoms.":[148],"These":[149],"findings":[150],"reveal":[151],"diverse":[152],"mechanisms":[153],"function,":[158],"expanding":[159],"spectrum":[162],"GOF,":[164],"underscore":[166],"importance":[168],"precise":[170],"variant":[171],"characterization":[172],"for":[173],"effective":[174],"personalized":[175],"therapy.":[176]},"counts_by_year":[{"year":2026,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2025-10-24T00:00:00"}