{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T01:03:36Z","timestamp":1791594216056,"version":"4.3.4"},"reference-count":57,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,1,14]],"date-time":"2023-01-14T00:00:00Z","timestamp":1673654400000},"content-version":"vor","delay-in-days":378,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100005292","name":"Brigham and Women's Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005292","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005294","name":"Massachusetts General Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005294","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32 AI007387"],"award-info":[{"award-number":["T32 AI007387"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Med"],"published-print":{"date-parts":[[2022,1]]},"DOI":"10.1016\/j.medj.2021.12.003","type":"journal-article","created":{"date-parts":[[2022,1,14]],"date-time":"2022-01-14T10:52:23Z","timestamp":1642157543000},"page":"42-57.e5","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":24,"title":["JAK inhibition in a patient with a STAT1 gain-of-function variant reveals STAT1 dysregulation as a common feature of aplastic anemia"],"prefix":"10.1016","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4951-7441","authenticated-orcid":false,"given":"Jacob M.","family":"Rosenberg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9163-6706","authenticated-orcid":false,"given":"Joshua M.","family":"Peters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Travis","family":"Hughes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4179-4807","authenticated-orcid":false,"given":"Caleb A.","family":"Lareau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2916-2164","authenticated-orcid":false,"given":"Leif S.","family":"Ludwig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucas R.","family":"Massoth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Austin-Tse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi L.","family":"Rehm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1716-6712","authenticated-orcid":false,"given":"Bryan","family":"Bryson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Bin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aviv","family":"Regev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5670-8778","authenticated-orcid":false,"given":"Alex K.","family":"Shalek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah M.","family":"Fortune","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David B.","family":"Sykes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.medj.2021.12.003_bib1","doi-asserted-by":"crossref","first-page":"1643","DOI":"10.1056\/NEJMra1413485","article-title":"Aplastic Anemia","volume":"379","author":"Young","year":"2018","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.medj.2021.12.003_bib2","doi-asserted-by":"crossref","first-page":"1568","DOI":"10.4049\/jimmunol.1501739","article-title":"Memory Stem T Cells in Autoimmune Disease: High Frequency of Circulating CD8+ Memory Stem Cells in Acquired Aplastic Anemia","volume":"196","author":"Hosokawa","year":"2016","journal-title":"J.\u00a0Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib3","doi-asserted-by":"crossref","first-page":"1984","DOI":"10.1002\/pro.3519","article-title":"The molecular details of cytokine signaling via the JAK\/STAT pathway","volume":"27","author":"Morris","year":"2018","journal-title":"Protein Sci."},{"key":"10.1016\/j.medj.2021.12.003_bib4","doi-asserted-by":"crossref","first-page":"3154","DOI":"10.1182\/blood-2015-11-679902","article-title":"Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype","volume":"127","author":"Toubiana","year":"2016","journal-title":"Blood"},{"key":"10.1016\/j.medj.2021.12.003_bib5","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1056\/NEJMoa1100102","article-title":"STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis","volume":"365","author":"van de Veerdonk","year":"2011","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.medj.2021.12.003_bib6","doi-asserted-by":"crossref","first-page":"654406","DOI":"10.3389\/fimmu.2021.654406","article-title":"Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review","volume":"12","author":"Zhang","year":"2021","journal-title":"Front. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib7","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/s10875-015-0214-9","article-title":"The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1","volume":"36","author":"Depner","year":"2016","journal-title":"J.\u00a0Clin. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib8","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1007\/s10875-020-00847-x","article-title":"Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy","volume":"40","author":"Okada","year":"2020","journal-title":"J.\u00a0Clin. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib9","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.coi.2021.02.009","article-title":"Inborn errors of STAT1 immunity","volume":"72","author":"Mizoguchi","year":"2021","journal-title":"Curr. Opin. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib10","doi-asserted-by":"crossref","first-page":"1629","DOI":"10.1016\/j.jaci.2016.11.022","article-title":"Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation","volume":"139","author":"Weinacht","year":"2017","journal-title":"J.\u00a0Allergy Clin. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib11","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1016\/j.jaci.2017.03.049","article-title":"Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations","volume":"141","author":"Leiding","year":"2018","journal-title":"J.\u00a0Allergy Clin. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib12","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1097\/00007890-198605000-00006","article-title":"Severe aplastic anemia associated with chronic mucocutaneous candidiasis. Immunologic and hematologic reconstitution after allogeneic bone marrow transplantation","volume":"41","author":"Deeg","year":"1986","journal-title":"Transplantation"},{"key":"10.1016\/j.medj.2021.12.003_bib13","first-page":"968","article-title":"Chronic mucocutaneous candidiasis with macrophage dysfunction, a plasma inhibitor, and co-existent aplastic anemia","volume":"85","author":"Twomey","year":"1975","journal-title":"J.\u00a0Lab. Clin. Med."},{"key":"10.1016\/j.medj.2021.12.003_bib14","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1084\/jem.20110958","article-title":"Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis","volume":"208","author":"Liu","year":"2011","journal-title":"J.\u00a0Exp. Med."},{"key":"10.1016\/j.medj.2021.12.003_bib15","doi-asserted-by":"crossref","first-page":"2834","DOI":"10.1002\/eji.201445344","article-title":"Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC)","volume":"45","author":"Zheng","year":"2015","journal-title":"Eur. J. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib16","doi-asserted-by":"crossref","first-page":"9394","DOI":"10.1073\/pnas.1511711112","article-title":"Opposing roles of STAT1 and STAT3 in IL-21 function in CD4+ T\u00a0cells","volume":"112","author":"Wan","year":"2015","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.medj.2021.12.003_bib17","doi-asserted-by":"crossref","first-page":"eaay5731","DOI":"10.1126\/science.aay5731","article-title":"Aberrant type 1 immunity drives susceptibility to mucosal fungal infections","volume":"371","author":"Break","year":"2021","journal-title":"Science"},{"key":"10.1016\/j.medj.2021.12.003_bib18","doi-asserted-by":"crossref","first-page":"6240","DOI":"10.1074\/jbc.M116.753848","article-title":"Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation","volume":"292","author":"Fujiki","year":"2017","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.medj.2021.12.003_bib19","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.jaci.2016.09.035","article-title":"Alanine-scanning mutagenesis of human STAT1 to estimate loss- or gain-of-function variants","volume":"140","author":"Kagawa","year":"2017","journal-title":"J.\u00a0Allergy Clin. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib20","doi-asserted-by":"crossref","first-page":"632997","DOI":"10.3389\/fimmu.2021.632997","article-title":"Transcriptional Profiling of STAT1 Gain-of-Function Reveals Common and Mutation-Specific Fingerprints","volume":"12","author":"Giovannozzi","year":"2021","journal-title":"Front. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib21","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1002\/eji.201847955","article-title":"Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined","volume":"49","author":"Kaleviste","year":"2019","journal-title":"Eur. J. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib22","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.3389\/fimmu.2019.01433","article-title":"STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation","volume":"10","author":"Zimmerman","year":"2019","journal-title":"Front. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib23","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.3389\/fimmu.2020.01114","article-title":"Live Cell Imaging Demonstrates Multiple Routes Toward a STAT1 Gain-of-Function Phenotype","volume":"11","author":"Giovannozzi","year":"2020","journal-title":"Front. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib24","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1007\/s10875-018-0519-6","article-title":"Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation","volume":"38","author":"Bloomfield","year":"2018","journal-title":"J.\u00a0Clin. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib25","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1016\/j.jaci.2018.07.020","article-title":"Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations","volume":"142","author":"Forbes","year":"2018","journal-title":"J.\u00a0Allergy Clin. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib26","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/j.jaci.2014.12.1867","article-title":"Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation","volume":"135","author":"Higgins","year":"2015","journal-title":"J.\u00a0Allergy Clin. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib27","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1093\/cid\/ciw020","article-title":"Ruxolitinib Induces Interleukin 17 and Ameliorates Chronic Mucocutaneous Candidiasis Caused by STAT1 Gain-of-Function Mutation","volume":"62","author":"M\u00f6ssner","year":"2016","journal-title":"Clin. Infect. Dis."},{"key":"10.1016\/j.medj.2021.12.003_bib28","doi-asserted-by":"crossref","first-page":"1494","DOI":"10.1056\/NEJMc2022226","article-title":"STAT1 Gain of Function, Type 1 Diabetes, and Reversal with JAK Inhibition","volume":"383","author":"Chaimowitz","year":"2020","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.medj.2021.12.003_bib29","doi-asserted-by":"crossref","first-page":"ofx202","DOI":"10.1093\/ofid\/ofx202","article-title":"Risks of Ruxolitinib in STAT1 Gain-of-Function-Associated Severe Fungal Disease","volume":"4","author":"Zimmerman","year":"2017","journal-title":"Open Forum Infect. Dis."},{"key":"10.1016\/j.medj.2021.12.003_bib30","doi-asserted-by":"crossref","first-page":"eabb1662","DOI":"10.1126\/sciimmunol.abb1662","article-title":"Human inborn errors of immunity: An expanding universe","volume":"5","author":"Notarangelo","year":"2020","journal-title":"Sci. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib31","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1056\/NEJM198203253061204","article-title":"Aplastic anemia (second of two parts): pathogenesis, diagnosis, treatment, and prognosis","volume":"306","author":"Camitta","year":"1982","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.medj.2021.12.003_bib32","doi-asserted-by":"crossref","first-page":"2137","DOI":"10.1084\/jem.20140520","article-title":"Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies","volume":"211","author":"Casanova","year":"2014","journal-title":"J.\u00a0Exp. Med."},{"key":"10.1016\/j.medj.2021.12.003_bib33","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1080\/13543776.2017.1252753","article-title":"Inhibitors of JAK-family kinases: an update on the patent literature 2013-2015, part 1","volume":"27","author":"Kettle","year":"2017","journal-title":"Expert Opin. Ther. Pat."},{"key":"10.1016\/j.medj.2021.12.003_bib34","doi-asserted-by":"crossref","first-page":"173505","DOI":"10.1016\/j.ejphar.2020.173505","article-title":"Preclinical characterization of itacitinib (INCB039110), a novel selective inhibitor of JAK1, for the treatment of inflammatory diseases","volume":"885","author":"Covington","year":"2020","journal-title":"Eur. J. Pharmacol."},{"key":"10.1016\/j.medj.2021.12.003_bib35","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1073\/pnas.82.1.188","article-title":"Interferon is a mediator of hematopoietic suppression in aplastic anemia in\u00a0vitro and possibly in\u00a0vivo","volume":"82","author":"Zoumbos","year":"1985","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.medj.2021.12.003_bib36","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1007\/s10875-019-00688-3","article-title":"Molecular and Phenotypic Characterization of Nine Patients with STAT1 GOF Mutations in China","volume":"40","author":"Chen","year":"2020","journal-title":"J.\u00a0Clin. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib37","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/j.gene.2016.04.006","article-title":"Common variable immunodeficiency, impaired neurological development and reduced numbers of T regulatory cells in a 10-year-old boy with a STAT1 gain-of-function mutation","volume":"586","author":"Kobbe","year":"2016","journal-title":"Gene"},{"key":"10.1016\/j.medj.2021.12.003_bib38","doi-asserted-by":"crossref","first-page":"576724","DOI":"10.3389\/fimmu.2020.576724","article-title":"Immune Monitoring of Patients With Primary Immune Regulation Disorders Unravels Higher Frequencies of Follicular T Cells With Different Profiles That Associate With Alterations in B Cell Subsets","volume":"11","author":"Caldirola","year":"2020","journal-title":"Front. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib39","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1182\/blood-2011-08-368308","article-title":"Functional characterization of CD4+ T\u00a0cells in aplastic anemia","volume":"119","author":"Kordasti","year":"2012","journal-title":"Blood"},{"key":"10.1016\/j.medj.2021.12.003_bib40","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1146\/annurev-immunol-041015-055318","article-title":"CD8\u00a0T Cell Exhaustion During Chronic Viral Infection and Cancer","volume":"37","author":"McLane","year":"2019","journal-title":"Annu. Rev. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib41","doi-asserted-by":"crossref","first-page":"4706","DOI":"10.1038\/s41467-019-12464-3","article-title":"Single-cell transcriptomics of human T\u00a0cells reveals tissue and activation signatures in health and disease","volume":"10","author":"Szabo","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.medj.2021.12.003_bib42","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1016\/j.cell.2018.11.043","article-title":"Dysfunctional CD8\u00a0T Cells Form a Proliferative, Dynamically Regulated Compartment within Human Melanoma","volume":"176","author":"Li","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.medj.2021.12.003_bib43","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.coi.2020.02.004","article-title":"CD4+ teff cell heterogeneity: the perspective from single-cell transcriptomics","volume":"63","author":"Zemmour","year":"2020","journal-title":"Curr. Opin. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib44","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1016\/j.cell.2015.12.032","article-title":"Parsing the Interferon Transcriptional Network and Its Disease Associations","volume":"164","author":"Mostafavi","year":"2016","journal-title":"Cell"},{"key":"10.1016\/j.medj.2021.12.003_bib45","article-title":"A Comprehensive Profile of ChIP-Seq-Based STAT1 Target Genes Suggests the Complexity of STAT1-Mediated Gene Regulatory Mechanisms","volume":"7","author":"Satoh","year":"2013","journal-title":"Gene Regul. Syst. Biol."},{"key":"10.1016\/j.medj.2021.12.003_bib46","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.1016\/j.immuni.2018.10.009","article-title":"Salmonella Persist in Activated Macrophages in T Cell-Sparse Granulomas but Are Contained by Surrounding CXCR3 Ligand-Positioned Th1 Cells","volume":"49","author":"Goldberg","year":"2018","journal-title":"Immunity"},{"key":"10.1016\/j.medj.2021.12.003_bib47","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1126\/science.aae0491","article-title":"The epigenetic landscape of T\u00a0cell exhaustion","volume":"354","author":"Sen","year":"2016","journal-title":"Science"},{"key":"10.1016\/j.medj.2021.12.003_bib48","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1126\/science.aaf2807","article-title":"Epigenetic stability of exhausted T\u00a0cells limits durability of reinvigoration by PD-1 blockade","volume":"354","author":"Pauken","year":"2016","journal-title":"Science"},{"key":"10.1016\/j.medj.2021.12.003_bib49","doi-asserted-by":"crossref","first-page":"330","DOI":"10.3389\/fimmu.2016.00330","article-title":"Hematopoietic Stem Cell Regulation by Type I and II Interferons in the Pathogenesis of Acquired Aplastic Anemia","volume":"7","author":"Smith","year":"2016","journal-title":"Front. Immunol."},{"key":"10.1016\/j.medj.2021.12.003_bib50","doi-asserted-by":"crossref","first-page":"h1738","DOI":"10.1136\/bmj.h1738","article-title":"CONSORT extension for reporting N-of-1 trials (CENT) 2015 Statement","volume":"350","author":"Vohra","year":"2015","journal-title":"BMJ"},{"key":"10.1016\/j.medj.2021.12.003_bib51","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1038\/s41375-021-01231-3","article-title":"Somatic mutations in lymphocytes\u00a0in patients with immune-mediated aplastic anemia","volume":"35","author":"Lundgren","year":"2021","journal-title":"Leukemia"},{"key":"10.1016\/j.medj.2021.12.003_bib52","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.ebiom.2014.11.008","article-title":"Clinical\u00a0Grade \u201cSNaPshot\u201d Genetic Mutation Profiling in Multiple Myeloma","volume":"2","author":"O\u2019Donnell","year":"2014","journal-title":"EBioMedicine"},{"key":"10.1016\/j.medj.2021.12.003_bib53","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1016\/j.immuni.2020.09.015","article-title":"Second-Strand Synthesis-Based Massively Parallel scRNA-Seq Reveals Cellular States and Molecular Features of Human Inflammatory Skin Pathologies","volume":"53","author":"Hughes","year":"2020","journal-title":"Immunity"},{"key":"10.1016\/j.medj.2021.12.003_bib54","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1038\/s41592-019-0619-0","article-title":"Fast, sensitive and accurate integration of single-cell data with Harmony","volume":"16","author":"Korsunsky","year":"2019","journal-title":"Nat. Methods"},{"key":"10.1016\/j.medj.2021.12.003_bib55","doi-asserted-by":"crossref","first-page":"1888","DOI":"10.1016\/j.cell.2019.05.031","article-title":"Comprehensive Integration of Single-Cell Data","volume":"177","author":"Stuart","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.medj.2021.12.003_bib56","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1038\/nmeth.4401","article-title":"chromVAR: inferring transcription-factor-associated accessibility from single-cell epigenomic data","volume":"14","author":"Schep","year":"2017","journal-title":"Nat. Methods"},{"key":"10.1016\/j.medj.2021.12.003_bib57","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1038\/s41587-019-0206-z","article-title":"Massively parallel single-cell chromatin landscapes of human immune cell development and intratumoral T\u00a0cell exhaustion","volume":"37","author":"Satpathy","year":"2019","journal-title":"Nat. Biotechnol."}],"container-title":["Med"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2666634021004049?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2666634021004049?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T02:54:57Z","timestamp":1763002497000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2666634021004049"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":57,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["S2666634021004049"],"URL":"https:\/\/doi.org\/10.1016\/j.medj.2021.12.003","relation":{},"ISSN":["2666-6340"],"issn-type":[{"value":"2666-6340","type":"print"}],"subject":[],"published":{"date-parts":[[2022,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"JAK inhibition in a patient with a STAT1 gain-of-function variant reveals STAT1 dysregulation as a common feature of aplastic anemia","name":"articletitle","label":"Article Title"},{"value":"Med","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.medj.2021.12.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier Inc.","name":"copyright","label":"Copyright"}]}}