{"id":"https://openalex.org/W7225644227","doi":"https://doi.org/10.6084/m9.figshare.34955765","title":"IDH2-Mutated Clonal Hematopoiesis Associated Uveitis","display_name":"IDH2-Mutated Clonal Hematopoiesis Associated Uveitis","publication_year":2026,"publication_date":"2026-11-09","ids":{"openalex":"https://openalex.org/W7225644227","doi":"https://doi.org/10.6084/m9.figshare.34955765"},"language":"en","primary_location":{"id":"doi:10.6084/m9.figshare.34955765","doi":"https://doi.org/10.6084/m9.figshare.34955765","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.34955765","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["datacite"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://doi.org/10.6084/m9.figshare.34955765","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5024301834","display_name":"Alessio Antropoli","orcid":"https://orcid.org/0000-0001-9630-0830","observed_orcids":["https://orcid.org/0000-0001-9630-0830"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alessio Antropoli","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005270663","display_name":"Gregorio Maria Bergonzi","orcid":"https://orcid.org/0009-0007-1339-2663","observed_orcids":["https://orcid.org/0009-0007-1339-2663"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Gregorio Maria Bergonzi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5115619154","display_name":"Alessio Speranzini","orcid":"https://orcid.org/0009-0007-1574-6998","observed_orcids":["https://orcid.org/0009-0007-1574-6998"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alessio Speranzini","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048610814","display_name":"Federico Rissotto","orcid":"https://orcid.org/0000-0002-1584-1801","observed_orcids":["https://orcid.org/0000-0002-1584-1801"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Federico Rissotto","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058061012","display_name":"Lorenzo Bianco","orcid":"https://orcid.org/0000-0002-4023-5387","observed_orcids":["https://orcid.org/0000-0002-4023-5387"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lorenzo Bianco","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055969081","display_name":"Deborah Martinuzzi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Deborah Martinuzzi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5092875695","display_name":"Sebastiano Del Fabbro","orcid":"https://orcid.org/0009-0001-2632-8560","observed_orcids":["https://orcid.org/0009-0001-2632-8560"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sebastiano Del Fabbro","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5156019895","display_name":"ALESSANDRO TOMELLERI","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alessandro Tomelleri","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027512145","display_name":"Lorenzo Dagna","orcid":"https://orcid.org/0000-0002-7428-315X","observed_orcids":["https://orcid.org/0000-0002-7428-315X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lorenzo Dagna","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026667594","display_name":"Fabio Ciceri","orcid":"https://orcid.org/0000-0003-0873-0123","observed_orcids":["https://orcid.org/0000-0003-0873-0123"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Fabio Ciceri","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056909319","display_name":"Francesco Maria Bandello","orcid":"https://orcid.org/0000-0003-3238-9682","observed_orcids":["https://orcid.org/0000-0003-3238-9682"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Francesco Bandello","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043594191","display_name":"Maria Vittoria Cicinelli","orcid":"https://orcid.org/0000-0003-2938-0409","observed_orcids":["https://orcid.org/0000-0003-2938-0409"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Maria Vittoria Cicinelli","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035626409","display_name":"Corrado Campochiaro","orcid":"https://orcid.org/0000-0001-6806-3794","observed_orcids":["https://orcid.org/0000-0001-6806-3794"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Corrado Campochiaro","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026561327","display_name":"Elisa Diral","orcid":"https://orcid.org/0000-0002-4994-7719","observed_orcids":["https://orcid.org/0000-0002-4994-7719"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Elisa Diral","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5065530821","display_name":"Elisabetta Miserocchi","orcid":"https://orcid.org/0000-0003-2989-6712","observed_orcids":["https://orcid.org/0000-0003-2989-6712"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Elisabetta Miserocchi","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":0.0,"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/T11194","display_name":"Ocular Diseases and Beh\u00e7et\u2019s Syndrome","score":0.9775000214576721,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11194","display_name":"Ocular Diseases and Beh\u00e7et\u2019s Syndrome","score":0.9775000214576721,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T11328","display_name":"Ocular Oncology and Treatments","score":0.012299999594688416,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T10309","display_name":"Acute Myeloid Leukemia Research","score":0.00419999985024333,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/idh2-mutation","display_name":"IDH2 mutation","score":0.9549999833106995},{"id":"https://openalex.org/keywords/clonal-hematopoiesis","display_name":"clonal hematopoiesis","score":0.9819999933242798},{"id":"https://openalex.org/keywords/non-infectious-uveitis","display_name":"non-infectious uveitis","score":0.9169999957084656},{"id":"https://openalex.org/keywords/granulomatous-anterior-uveitis","display_name":"granulomatous anterior uveitis","score":0.890999972820282},{"id":"https://openalex.org/keywords/panuveitis","display_name":"panuveitis","score":0.8830000162124634},{"id":"https://openalex.org/keywords/multifocal-choroiditis","display_name":"multifocal choroiditis","score":0.9900000095367432},{"id":"https://openalex.org/keywords/acute-myeloid-leukemia","display_name":"acute myeloid leukemia","score":0.8389999866485596},{"id":"https://openalex.org/keywords/chronic-myelomonocytic-leukemia","display_name":"chronic myelomonocytic leukemia","score":0.9980000257492065},{"id":"https://openalex.org/keywords/clonal-cytopenia-of-undetermined-significance","display_name":"clonal cytopenia of undetermined significance","score":0.9929999709129333},{"id":"https://openalex.org/keywords/somatic-mutations","display_name":"somatic mutations","score":0.6169999837875366},{"id":"https://openalex.org/keywords/glucocorticoid-therapy","display_name":"glucocorticoid therapy","score":0.7940000295639038},{"id":"https://openalex.org/keywords/intravitreal-therapy","display_name":"intravitreal therapy","score":0.699999988079071},{"id":"https://openalex.org/keywords/ocular-inflammation","display_name":"ocular inflammation","score":0.6480000019073486}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7982000112533569},{"id":"https://openalex.org/C2776194053","wikidata":"https://www.wikidata.org/wiki/Q280027","display_name":"Uveitis","level":2,"score":0.6462000012397766},{"id":"https://openalex.org/C2780366003","wikidata":"https://www.wikidata.org/wiki/Q246147","display_name":"Cytopenia","level":3,"score":0.6229000091552734},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.5752000212669373},{"id":"https://openalex.org/C2778080410","wikidata":"https://www.wikidata.org/wiki/Q5422215","display_name":"Extramedullary hematopoiesis","level":4,"score":0.5548999905586243},{"id":"https://openalex.org/C2779282312","wikidata":"https://www.wikidata.org/wiki/Q1956561","display_name":"Myeloid","level":2,"score":0.48739999532699585},{"id":"https://openalex.org/C2780007613","wikidata":"https://www.wikidata.org/wiki/Q546523","display_name":"Bone marrow","level":2,"score":0.45190000534057617},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3822000026702881},{"id":"https://openalex.org/C2911002200","wikidata":"https://www.wikidata.org/wiki/Q1402851","display_name":"Choroiditis","level":2,"score":0.3734999895095825},{"id":"https://openalex.org/C2777168383","wikidata":"https://www.wikidata.org/wiki/Q4677951","display_name":"Acute retinal necrosis","level":5,"score":0.3682999908924103},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.3571000099182129},{"id":"https://openalex.org/C109159458","wikidata":"https://www.wikidata.org/wiki/Q919283","display_name":"Haematopoiesis","level":3,"score":0.310699999332428},{"id":"https://openalex.org/C196166836","wikidata":"https://www.wikidata.org/wiki/Q902926","display_name":"Immunophenotyping","level":3,"score":0.29179999232292175},{"id":"https://openalex.org/C2779382419","wikidata":"https://www.wikidata.org/wiki/Q1757427","display_name":"Pancytopenia","level":3,"score":0.28610000014305115},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.28209999203681946},{"id":"https://openalex.org/C2778729363","wikidata":"https://www.wikidata.org/wiki/Q11688946","display_name":"Myeloid leukemia","level":2,"score":0.27810001373291016},{"id":"https://openalex.org/C134305767","wikidata":"https://www.wikidata.org/wiki/Q725508","display_name":"Somatic cell","level":3,"score":0.2757999897003174},{"id":"https://openalex.org/C2776914184","wikidata":"https://www.wikidata.org/wiki/Q101991","display_name":"Inflammation","level":2,"score":0.2687999904155731},{"id":"https://openalex.org/C2780238520","wikidata":"https://www.wikidata.org/wiki/Q845698","display_name":"Blepharitis","level":2,"score":0.25540000200271606}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.6084/m9.figshare.34955765","doi":"https://doi.org/10.6084/m9.figshare.34955765","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.34955765","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"},{"id":"doi:10.6084/m9.figshare.34955765.v1","doi":"https://doi.org/10.6084/m9.figshare.34955765.v1","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.34955765.v1","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"}],"best_oa_location":{"id":"doi:10.6084/m9.figshare.34955765","doi":"https://doi.org/10.6084/m9.figshare.34955765","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.34955765","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4417018552","https://openalex.org/W4417007255","https://openalex.org/W1821573518","https://openalex.org/W2342915063","https://openalex.org/W1979210826","https://openalex.org/W4400322614","https://openalex.org/W4417004860","https://openalex.org/W4223494902","https://openalex.org/W4283392284","https://openalex.org/W4404315417"],"abstract_inverted_index":{"Somatic":[0],"hematopoietic":[1],"mutations":[2],"are":[3],"increasingly":[4],"recognized":[5],"as":[6],"drivers":[7],"of":[8,30,59,79,92,148,171,185],"acquired":[9],"hemato-inflammatory":[10],"diseases.":[11],"This":[12],"study":[13],"aimed":[14],"to":[15],"characterize":[16],"ocular":[17,149,188],"inflammation":[18],"associated":[19,157],"with":[20,103,107,115,158,164],"IDH2-mutant":[21],"clonal":[22,90,153],"hematopoiesis.":[23],"We":[24],"describe":[25],"a":[26],"retrospective":[27],"case":[28],"series":[29],"three":[31],"male":[32],"patients":[33,46,118,144],"evaluated":[34],"at":[35],"IRCCS":[36],"San":[37],"Raffaele":[38],"Scientific":[39],"Institute":[40],"between":[41],"2022":[42],"and":[43,53,66,89,111,137,145,178,181],"2026.":[44],"All":[45,117],"underwent":[47],"comprehensive":[48],"ophthalmic,":[49],"infectious,":[50],"immunologic,":[51],"hematologic,":[52],"molecular":[54,179],"evaluation,":[55],"including":[56,135],"next-generation":[57],"sequencing":[58],"peripheral":[60],"blood":[61],"or":[62,167],"bone":[63],"marrow":[64],"samples":[65],"targeted":[67],"UBA1":[68,128],"testing.":[69],"Three":[70],"unrelated":[71],"men":[72],"developed":[73],"noninfectious":[74,159],"uveitis":[75,102,160],"in":[76,142,161],"the":[77,120],"setting":[78],"distinct":[80],"hematologic":[81,177],"phenotypes:":[82],"acute":[83],"myeloid":[84,168],"leukemia,":[85,88],"chronic":[86],"myelomonocytic":[87],"cytopenia":[91],"undetermined":[93],"significance.":[94],"Ocular":[95],"manifestations":[96],"included":[97],"unilateral":[98],"recurrent":[99],"granulomatous":[100],"anterior":[101],"papillitis,":[104],"bilateral":[105,112],"panuveitis":[106],"necrotizing":[108],"nodular":[109],"scleritis,":[110],"multifocal":[113],"choroiditis":[114],"panuveitis.":[116],"harbored":[119],"same":[121],"somatic":[122],"oncogenic":[123],"IDH2":[124,151],"p.R140Q":[125],"variant,":[126],"whereas":[127],"testing":[129],"was":[130,140],"negative.":[131],"Local":[132],"glucocorticoid":[133],"therapy,":[134],"topical":[136],"intravitreal":[138],"treatment,":[139],"administered":[141],"two":[143],"achieved":[146],"control":[147],"inflammation.":[150,189],"p.R140Q\u2013mutant":[152],"hematopoiesis":[154],"may":[155,174],"be":[156],"older":[162],"adults":[163],"unexplained":[165,187],"cytopenias":[166],"disease.":[169],"Recognition":[170],"this":[172],"association":[173],"prompt":[175],"earlier":[176],"evaluation":[180],"support":[182],"multidisciplinary":[183],"management":[184],"otherwise":[186]},"counts_by_year":[],"updated_date":"2026-11-11T12:16:26.678958","created_date":"2026-11-10T00:00:00"}