{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T00:59:37Z","timestamp":1791939577445,"version":"4.3.4"},"reference-count":73,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["GENMSMD (ANR-16-CE17.0005-01)"],"award-info":[{"award-number":["GENMSMD (ANR-16-CE17.0005-01)"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"HHS | National Institutes of Health","doi-asserted-by":"publisher","award":["8UL1TR000043"],"award-info":[{"award-number":["8UL1TR000043"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"MEXT | Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["16H05355"],"award-info":[{"award-number":["16H05355"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"MEXT | Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["19H03620"],"award-info":[{"award-number":["19H03620"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Autosomal recessive (AR) STAT1 deficiency is a severe inborn error of immunity disrupting cellular responses to type I, II, and III IFNs, and IL-27, and conferring a predisposition to both viral and mycobacterial infections. We report the genetic, immunological, and clinical features of an international cohort of 32 patients from 20 kindreds: 24 patients with complete deficiency, and 8 patients with partial deficiency. Twenty-four patients suffered from mycobacterial disease (bacillus Calmette\u2013Gu\u00e9rin = 13, environmental mycobacteria = 10, or both in 1 patient). Fifty-four severe viral episodes occurred in sixteen patients, mainly caused by Herpesviridae viruses. Attenuated live measles, mumps, and rubella and\/or varicella zoster virus vaccines triggered severe reactions in the five patients with complete deficiency who were vaccinated. Seven patients developed features of hemophagocytic syndrome. Twenty-one patients died, and death was almost twice as likely in patients with complete STAT1 deficiency than in those with partial STAT1 deficiency. All but one of the eight survivors with AR complete deficiency underwent hematopoietic stem cell transplantation. Overall survival after hematopoietic stem cell transplantation was 64%. A diagnosis of AR STAT1 deficiency should be considered in children with mycobacterial and\/or viral infectious diseases. It is important to distinguish between complete and partial forms of AR STAT1 deficiency, as their clinical outcome and management differ significantly.<\/jats:p>","DOI":"10.4049\/jimmunol.2001451","type":"journal-article","created":{"date-parts":[[2021,6,28]],"date-time":"2021-06-28T18:30:45Z","timestamp":1624905045000},"page":"133-152","source":"Crossref","is-referenced-by-count":62,"title":["Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency"],"prefix":"10.1093","volume":"207","author":[{"given":"Tom","family":"Le Voyer","sequence":"first","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163 , Paris ,","place":["France"]},{"name":"University of Paris, Imagine Institute , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonoko","family":"Sakata","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University , Hiroshima ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miyuki","family":"Tsumura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University , Hiroshima ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7917-8965","authenticated-orcid":false,"given":"Taushif","family":"Khan","sequence":"additional","affiliation":[{"name":"Division of Translational Medicine, Sidra Medicine , Doha ,","place":["Qatar"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0542-0587","authenticated-orcid":false,"given":"Ana","family":"Esteve-Sole","sequence":"additional","affiliation":[{"name":"Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, and Functional Unit of Immunology, Sant Joan de D\u00e9u Hospital, Institut de Recerca Sant Joan de D\u00e9u, University of Barcelona , Barcelona ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bandar K","family":"Al-Saud","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, King Faisal Specialist Hospital and Research Center , Riyadh ,","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0102-8123","authenticated-orcid":false,"given":"Hatice Eke","family":"Gungor","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Allergy and Immunology Unit, Kayseri Education and Research Hospital , Erkilet, Kayseri ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prasad","family":"Taur","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology, Bai Jerbai Wadia Hospital for Children , Mumbai ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentine","family":"Jeanne-Julien","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163 , Paris ,","place":["France"]},{"name":"University of Paris, Imagine Institute , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5158-3670","authenticated-orcid":false,"given":"Mette","family":"Christiansen","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology, Aarhus University Hospital , Aarhus N ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa-Maria","family":"K\u00f6hler","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Dr. von Hauner Children\u2019s Hospital, University Hospital, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen , Munich ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gehad Eltayeb","family":"ElGhazali","sequence":"additional","affiliation":[{"name":"Sheikh Khalifa Medical City-Union71, Abu Dhabi and Department of Immunology, College of Medicine and Health Sciences, UAE University , Al Ain ,","place":["United Arab Emirates"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2822-161X","authenticated-orcid":false,"given":"J\u00e9r\u00e9mie","family":"Rosain","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163 , Paris ,","place":["France"]},{"name":"University of Paris, Imagine Institute , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiho","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University , Hiroshima ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumiaki","family":"Sakura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University , Hiroshima ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthieu","family":"Bouaziz","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163 , Paris ,","place":["France"]},{"name":"University of Paris, Imagine Institute , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6057-0959","authenticated-orcid":false,"given":"Carmen","family":"Oleaga-Quintas","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163 , Paris ,","place":["France"]},{"name":"University of Paris, Imagine Institute , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8668-6853","authenticated-orcid":false,"given":"Alejandro","family":"Nieto-Patl\u00e1n","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163 , Paris ,","place":["France"]},{"name":"University of Paris, Imagine Institute , Paris ,","place":["France"]},{"name":"Research and Development in Bioprocess Unit, National School of Biological Sciences, National Polytechnic Institute , Mexico City ,","place":["Mexico"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c0ngela","family":"Dey\u00e0-Martinez","sequence":"additional","affiliation":[{"name":"Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, and Functional Unit of Immunology, Sant Joan de D\u00e9u Hospital, Institut de Recerca Sant Joan de D\u00e9u, University of Barcelona , Barcelona ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasemin","family":"Altuner Torun","sequence":"additional","affiliation":[{"name":"Pediatric Hematology and Oncology Unit, Istinye University, School of Medicine , \u0130stanbul ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8573-6820","authenticated-orcid":false,"given":"Anna-Lena","family":"Neehus","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163 , Paris ,","place":["France"]},{"name":"University of Paris, Imagine Institute , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0668-002X","authenticated-orcid":false,"given":"Manon","family":"Roynard","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163 , Paris ,","place":["France"]},{"name":"University of Paris, Imagine Institute , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sefika Elmas","family":"Bozdemir","sequence":"additional","affiliation":[{"name":"Pediatric \u0130nfectious Disease Unit, Department of Pediatrics, Kayseri Education and Research Hospital , Erkilet, Kayseri ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2180-4158","authenticated-orcid":false,"given":"Nawal","family":"Al Kaabi","sequence":"additional","affiliation":[{"name":"Sheikh Khalifa Medical City-Union71, Abu Dhabi and Department of Immunology, College of Medicine and Health Sciences, UAE University , Al Ain ,","place":["United Arab Emirates"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moza","family":"Al Hassani","sequence":"additional","affiliation":[{"name":"Sheikh Khalifa Medical City-Union71, Abu Dhabi and Department of Immunology, College of Medicine and Health Sciences, UAE University , Al Ain ,","place":["United Arab Emirates"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0471-2956","authenticated-orcid":false,"given":"Irina","family":"Mersiyanova","sequence":"additional","affiliation":[{"name":"Molecular Biology Laboratory, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology , Moscow ,","place":["Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flore","family":"Rozenberg","sequence":"additional","affiliation":[{"name":"Department of Virology, Cochin Hospital, University of Paris, Assistance Publique H\u00f4pitaux de Paris , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten","family":"Speckmann","sequence":"additional","affiliation":[{"name":"Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg , Freiburg ,","place":["Germany"]},{"name":"Center for Chronic Immunodeficiency, Institute for Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg , Freiburg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ina","family":"Hainmann","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology, University Hospital Bonn , Bonn ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9644-2003","authenticated-orcid":false,"given":"Fabian","family":"Hauck","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Dr. von Hauner Children\u2019s Hospital, University Hospital, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen , Munich ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed Hamdan","family":"Alzahrani","sequence":"additional","affiliation":[{"name":"Pediatric Department, Security Forces Hospital , Riyadh ,","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4664-9748","authenticated-orcid":false,"given":"Sami Hussain","family":"Alhajjar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, King Faisal Specialist Hospital and Research Center , Riyadh ,","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saleh","family":"Al-Muhsen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, King Faisal Specialist Hospital and Research Center , Riyadh ,","place":["Saudi Arabia"]},{"name":"Immunology Research Laboratory, College of Medicine, King Saud University , Riyadh ,","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8272-4074","authenticated-orcid":false,"given":"Theresa","family":"Cole","sequence":"additional","affiliation":[{"name":"Department of Immunology, The Royal Children\u2019s Hospital , Melbourne ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramsay","family":"Fuleihan","sequence":"additional","affiliation":[{"name":"Division of Allergy & Immunology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago , Chicago, IL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7411-5375","authenticated-orcid":false,"given":"Peter D","family":"Arkwright","sequence":"additional","affiliation":[{"name":"Department of Paediatric Allergy and Immunology, Lydia Becker Institute of Immunology and Inflammation, Royal Manchester Children\u2019s Hospital, University of Manchester , Manchester ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaele","family":"Badolato","sequence":"additional","affiliation":[{"name":"Institute of Molecular Medicine Angelo Nocivelli, University of Brescia, Civil Hospital of Brescia , Brescia ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3559-0018","authenticated-orcid":false,"given":"Laia","family":"Alsina","sequence":"additional","affiliation":[{"name":"Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, and Functional Unit of Immunology, Sant Joan de D\u00e9u Hospital, Institut de Recerca Sant Joan de D\u00e9u, University of Barcelona , Barcelona ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Abel","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163 , Paris ,","place":["France"]},{"name":"University of Paris, Imagine Institute , Paris ,","place":["France"]},{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mukesh","family":"Desai","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology, Bai Jerbai Wadia Hospital for Children , Mumbai ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamoud","family":"Al-Mousa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, King Faisal Specialist Hospital and Research Center , Riyadh ,","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3113-4939","authenticated-orcid":false,"given":"Anna","family":"Shcherbina","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology and Allergy, Center for Pediatric Hematology, Oncology and Immunology , Moscow ,","place":["Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nico","family":"Marr","sequence":"additional","affiliation":[{"name":"Division of Translational Medicine, Sidra Medicine , Doha ,","place":["Qatar"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Boisson-Dupuis","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163 , Paris ,","place":["France"]},{"name":"University of Paris, Imagine Institute , Paris ,","place":["France"]},{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Laurent","family":"Casanova","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163 , Paris ,","place":["France"]},{"name":"University of Paris, Imagine Institute , Paris ,","place":["France"]},{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY"},{"name":"Howard Hughes Medical Institute , New York, NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Okada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University , Hiroshima ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacinta","family":"Bustamante","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163 , Paris ,","place":["France"]},{"name":"University of Paris, Imagine Institute , Paris ,","place":["France"]},{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY"},{"name":"Study Center for Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique H\u00f4pitaux de Paris , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,7,1]]},"reference":[{"key":"2025022606253330000_r1","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1038\/ng1097","article-title":"Impaired response to interferon-alpha\/beta and lethal viral disease in human STAT1 deficiency","volume":"33","author":"Dupuis","year":"2003","journal-title":"Nat. Genet."},{"key":"2025022606253330000_r2","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1016\/j.coi.2012.04.011","article-title":"Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes","volume":"24","author":"Boisson-Dupuis","year":"2012","journal-title":"Curr. Opin. Immunol."},{"key":"2025022606253330000_r3","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1016\/j.jaip.2016.02.015","article-title":"A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature","volume":"4","author":"Burns","year":"2016","journal-title":"J. Allergy Clin. Immunol. Pract."},{"key":"2025022606253330000_r4","doi-asserted-by":"crossref","first-page":"5078","DOI":"10.4049\/jimmunol.176.8.5078","article-title":"Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo","volume":"176","author":"Chapgier","year":"2006","journal-title":"J. Immunol."},{"key":"2025022606253330000_r5","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1007\/s10875-017-0430-6","article-title":"Long-term survival after hematopoietic stem cell transplantation for complete STAT1 deficiency","volume":"37","author":"Naviglio","year":"2017","journal-title":"J. Clin. Immunol."},{"key":"2025022606253330000_r6","doi-asserted-by":"crossref","first-page":"1806","DOI":"10.1182\/blood-2011-01-330571","article-title":"Severe impairment of IFN-\u03b3 and IFN-\u03b1 responses in cells of a patient with a novel STAT1 splicing mutation","volume":"118","author":"Vairo","year":"2011","journal-title":"Blood"},{"key":"2025022606253330000_r7","doi-asserted-by":"crossref","first-page":"3102","DOI":"10.1016\/j.jaip.2020.06.034","article-title":"A novel complete autosomal-recessive STAT1 LOF Variant causes immunodeficiency with hemophagocytic lymphohistiocytosis-like hyperinflammation","volume":"8","author":"Boehmer","year":"2020","journal-title":"J. Allergy Clin. Immunol. Pract."},{"key":"2025022606253330000_r8","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1172\/JCI37083","article-title":"A partial form of recessive STAT1 deficiency in humans","volume":"119","author":"Chapgier","year":"2009","journal-title":"J. Clin. Invest."},{"key":"2025022606253330000_r9","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1007\/s10875-010-9480-8","article-title":"Novel STAT1 alleles in a patient with impaired resistance to mycobacteria","volume":"31","author":"Kristensen","year":"2011","journal-title":"J. Clin. Immunol."},{"key":"2025022606253330000_r10","doi-asserted-by":"crossref","first-page":"5895","DOI":"10.1182\/blood-2010-04-280586","article-title":"A novel form of human STAT1 deficiency impairing early but not late responses to interferons","volume":"116","author":"Kong","year":"2010","journal-title":"Blood"},{"key":"2025022606253330000_r11","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1164\/rccm.200604-571ST","article-title":"An official ATS\/IDSA statement: diagnosis, treatment, and prevention of nontuberculous mycobacterial diseases. [Published erratum appears in 2007 Am. J. Respir. Crit. Care Med. 175: 744\u2013745.]","volume":"175","author":"Griffith","year":"2007","journal-title":"Am. J. Respir. Crit. Care Med."},{"key":"2025022606253330000_r12","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1002\/pbc.21039","article-title":"HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis","volume":"48","author":"Henter","year":"2007","journal-title":"Pediatr. Blood Cancer"},{"key":"2025022606253330000_r13","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1093\/intimm\/dxaa043","article-title":"Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations","volume":"32","author":"Sakata","year":"2020","journal-title":"Int. Immunol."},{"key":"2025022606253330000_r14","doi-asserted-by":"crossref","first-page":"1780","DOI":"10.1016\/j.jaci.2015.12.1310","article-title":"Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases","volume":"137","author":"Al-Mousa","year":"2016","journal-title":"J. Allergy Clin. Immunol."},{"key":"2025022606253330000_r15","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1038\/nmeth.3739","article-title":"The mutation significance cutoff: gene-level thresholds for variant predictions","volume":"13","author":"Itan","year":"2016","journal-title":"Nat. Methods"},{"key":"2025022606253330000_r16","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1136\/jmg.2003.017962","article-title":"Estimating the age of rare disease mutations: the example of Triple-A syndrome","volume":"41","author":"Genin","year":"2004","journal-title":"J. Med. Genet."},{"key":"2025022606253330000_r17","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.jaci.2016.09.035","article-title":"Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants","volume":"140","author":"Kagawa","year":"2017","journal-title":"J. Allergy Clin. Immunol."},{"key":"2025022606253330000_r18","doi-asserted-by":"crossref","first-page":"3158","DOI":"10.1172\/JCI135460","article-title":"Inherited human IFN-\u03b3 deficiency underlies mycobacterial disease","volume":"130","author":"Kerner","year":"2020","journal-title":"J. Clin. Invest."},{"key":"2025022606253330000_r19","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1080\/10408363.2018.1444580","article-title":"Laboratory evaluation of the IFN-\u03b3 circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease","volume":"55","author":"Esteve-Sol\u00e9","year":"2018","journal-title":"Crit. Rev. Clin. Lab. Sci."},{"key":"2025022606253330000_r20","doi-asserted-by":"crossref","first-page":"3276","DOI":"10.1002\/eji.200425221","article-title":"Bacillus Calmette Guerin triggers the IL-12\/IFN-gamma axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes","volume":"34","author":"Feinberg","year":"2004","journal-title":"Eur. J. Immunol."},{"key":"2025022606253330000_r21","doi-asserted-by":"crossref","first-page":"1630","DOI":"10.1126\/science.277.5332.1630","article-title":"STATs and gene regulation","volume":"277","author":"Darnell","year":"1997","journal-title":"Science"},{"key":"2025022606253330000_r22","doi-asserted-by":"crossref","first-page":"1641","DOI":"10.3324\/haematol.2013.083741","article-title":"Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis","volume":"98","author":"Hirata","year":"2013","journal-title":"Haematologica"},{"key":"2025022606253330000_r23","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1146\/annurev-immunol-032713-120231","article-title":"Interferon-stimulated genes: a complex web of host defenses","volume":"32","author":"Schneider","year":"2014","journal-title":"Annu. Rev. Immunol."},{"key":"2025022606253330000_r24","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1097\/INF.0b013e3181fdff4a","article-title":"The clinical spectrum of patients with deficiency of signal transducer and activator of transcription-1","volume":"30","author":"Averbuch","year":"2011","journal-title":"Pediatr. Infect. Dis. J."},{"key":"2025022606253330000_r25","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1097\/INF.0000000000002090","article-title":"Successful brincidofovir treatment of metagenomics-detected adenovirus infection in a severely ill signal transducer and activator of transcription-1-deficient patient","volume":"38","author":"Averbuch","year":"2019","journal-title":"Pediatr. Infect. Dis. J."},{"key":"2025022606253330000_r26","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1038\/nri3581","article-title":"Regulation of type I interferon responses","volume":"14","author":"Ivashkiv","year":"2014","journal-title":"Nat. Rev. Immunol."},{"key":"2025022606253330000_r27","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1146\/annurev-med-051113-024537","article-title":"The JAK-STAT pathway: impact on human disease and therapeutic intervention","volume":"66","author":"O\u2019Shea","year":"2015","journal-title":"Annu. Rev. Med."},{"key":"2025022606253330000_r28","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1007\/s10875-019-00642-3","article-title":"Life-threatening infections due to live-attenuated vaccines: early manifestations of inborn errors of immunity. [Published erratum appears in 2019 J. Clin. Immunol. 39: 527.]","volume":"39","author":"P\u00f6yh\u00f6nen","year":"2019","journal-title":"J. Clin. Immunol."},{"key":"2025022606253330000_r29","doi-asserted-by":"crossref","first-page":"4415","DOI":"10.1172\/JCI93486","article-title":"A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations","volume":"127","author":"Hoyos-Bachiloglu","year":"2017","journal-title":"J. Clin. Invest."},{"key":"2025022606253330000_r30","doi-asserted-by":"crossref","first-page":"307ra154","DOI":"10.1126\/scitranslmed.aac4227","article-title":"Human IFNAR2 deficiency: lessons for antiviral immunity","volume":"7","author":"Duncan","year":"2015","journal-title":"Sci. Transl. Med."},{"key":"2025022606253330000_r31","doi-asserted-by":"crossref","first-page":"2057","DOI":"10.1084\/jem.20182295","article-title":"Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines","volume":"216","author":"Hernandez","year":"2019","journal-title":"J. Exp. Med."},{"key":"2025022606253330000_r32","doi-asserted-by":"crossref","first-page":"3053","DOI":"10.1073\/pnas.1220098110","article-title":"STAT2 deficiency and susceptibility to viral illness in humans","volume":"110","author":"Hambleton","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2025022606253330000_r33","doi-asserted-by":"crossref","first-page":"1995","DOI":"10.1016\/j.jaci.2016.10.033","article-title":"A novel kindred with inherited STAT2 deficiency and severe viral illness","volume":"139","author":"Moens","year":"2017","journal-title":"J. Allergy Clin. Immunol."},{"key":"2025022606253330000_r34","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1126\/science.aaa1578","article-title":"Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency","volume":"348","author":"Ciancanelli","year":"2015","journal-title":"Science"},{"key":"2025022606253330000_r35","doi-asserted-by":"crossref","first-page":"2215","DOI":"10.1016\/j.jaci.2018.10.068","article-title":"IFN-\u03b3 and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis","volume":"143","author":"Humblet-Baron","year":"2019","journal-title":"J. Allergy Clin. Immunol."},{"key":"2025022606253330000_r36","doi-asserted-by":"crossref","first-page":"75","DOI":"10.3389\/fped.2017.00075","article-title":"Multifocal recurrent osteomyelitis and hemophagocytic lymphohistiocytosis in a boy with partial dominant IFN-\u03b3R1 deficiency: case report and review of the literature","volume":"5","author":"Staines-Boone","year":"2017","journal-title":"Front Pediatr."},{"key":"2025022606253330000_r37","doi-asserted-by":"crossref","first-page":"1638","DOI":"10.1016\/j.jaci.2014.11.030","article-title":"Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-\u03b3 receptor deficiency","volume":"135","author":"Tesi","year":"2015","journal-title":"J. Allergy Clin. Immunol."},{"key":"2025022606253330000_r38","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1007\/s10875-016-0292-3","article-title":"Hemophagocytic lymphohistiocytosis as a complication in patients with MSMD","volume":"36","author":"Muriel-Vizcaino","year":"2016","journal-title":"J. Clin. Immunol."},{"key":"2025022606253330000_r39","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1007\/s00439-020-02120-y","article-title":"Mendelian susceptibility to mycobacterial disease: recent discoveries","volume":"139","author":"Bustamante","year":"2020","journal-title":"Hum. Genet."},{"key":"2025022606253330000_r40","doi-asserted-by":"crossref","first-page":"1941","DOI":"10.1056\/NEJM199612263352602","article-title":"A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection","volume":"335","author":"Newport","year":"1996","journal-title":"N. Engl. J. Med."},{"key":"2025022606253330000_r41","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1016\/j.smim.2014.09.008","article-title":"Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-\u03b3 immunity","volume":"26","author":"Bustamante","year":"2014","journal-title":"Semin. Immunol."},{"key":"2025022606253330000_r42","doi-asserted-by":"crossref","first-page":"13992","DOI":"10.1038\/ncomms13992","article-title":"Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection","volume":"7","author":"Eletto","year":"2016","journal-title":"Nat. Commun."},{"key":"2025022606253330000_r43","doi-asserted-by":"crossref","first-page":"1956","DOI":"10.1056\/NEJM199612263352604","article-title":"Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Gu\u00e9rin infection","volume":"335","author":"Jouanguy","year":"1996","journal-title":"N. Engl. J. Med."},{"key":"2025022606253330000_r44","doi-asserted-by":"crossref","first-page":"2113","DOI":"10.1016\/S0140-6736(04)17552-1","article-title":"Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies","volume":"364","author":"Dorman","year":"2004","journal-title":"Lancet"},{"key":"2025022606253330000_r45","doi-asserted-by":"crossref","first-page":"2390","DOI":"10.1182\/blood-2013-01-480814","article-title":"Partial IFN-\u03b3R2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation. [Published erratum appears in 2014 Blood 123: 1622.]","volume":"122","author":"Moncada-V\u00e9lez","year":"2013","journal-title":"Blood"},{"key":"2025022606253330000_r46","doi-asserted-by":"crossref","first-page":"1509","DOI":"10.1093\/hmg\/ddr029","article-title":"Partial recessive IFN-\u03b3R1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds","volume":"20","author":"Sologuren","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"2025022606253330000_r47","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1111\/imcb.12210","article-title":"Mendelian susceptibility to mycobacterial disease: 2014-2018 update","volume":"97","author":"Rosain","year":"2018","journal-title":"Immunol. Cell Biol."},{"key":"2025022606253330000_r48","doi-asserted-by":"crossref","first-page":"2567","DOI":"10.1084\/jem.20180628","article-title":"Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency","volume":"215","author":"Hernandez","year":"2018","journal-title":"J. Exp. Med."},{"key":"2025022606253330000_r49","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/j.jaci.2019.02.019","article-title":"Impaired control of multiple viral infections in a family with complete IRF9 deficiency","volume":"144","author":"Bravo Garc\u00eda-Morato","year":"2019","journal-title":"J. Allergy Clin. Immunol."},{"key":"2025022606253330000_r50","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1056\/NEJMoa0907206","article-title":"Inflammatory bowel disease and mutations affecting the interleukin-10 receptor","volume":"361","author":"Glocker","year":"2009","journal-title":"N. Engl. J. Med."},{"key":"2025022606253330000_r51","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1111\/j.1749-6632.2011.06339.x","article-title":"IL-10 and IL-10 receptor defects in humans","volume":"1246","author":"Glocker","year":"2011","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"2025022606253330000_r52","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.clim.2019.05.007","article-title":"Candidiasis associated with very early onset inflammatory bowel disease: First IL10RB deficient case from the National Iranian Registry and review of the literature","volume":"205","author":"Yazdani","year":"2019","journal-title":"Clin. Immunol."},{"key":"2025022606253330000_r53","doi-asserted-by":"crossref","first-page":"1641","DOI":"10.1084\/jem.20140280","article-title":"Human TYK2 deficiency: mycobacterial and viral infections without hyper-IgE syndrome","volume":"212","author":"Kreins","year":"2015","journal-title":"J. Exp. Med."},{"key":"2025022606253330000_r54","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1016\/j.immuni.2006.09.009","article-title":"Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity","volume":"25","author":"Minegishi","year":"2006","journal-title":"Immunity"},{"key":"2025022606253330000_r55","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1007\/s10875-019-00713-5","article-title":"A new patient with inherited TYK2 deficiency","volume":"40","author":"Sarrafzadeh","year":"2020","journal-title":"J. Clin. Immunol."},{"key":"2025022606253330000_r56","doi-asserted-by":"crossref","first-page":"e139980","DOI":"10.1172\/JCI139980","article-title":"Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency","volume":"131","author":"Bastard","year":"2021","journal-title":"J. Clin. Invest."},{"key":"2025022606253330000_r57","doi-asserted-by":"crossref","first-page":"eabd4570","DOI":"10.1126\/science.abd4570","article-title":"Inborn errors of type I IFN immunity in patients with life-threatening COVID-19","volume":"370","author":"Zhang","year":"2020","journal-title":"Science"},{"key":"2025022606253330000_r58","doi-asserted-by":"crossref","first-page":"1893","DOI":"10.1093\/infdis\/jir660","article-title":"Disseminated varicella infection caused by varicella vaccine strain in a child with low invariant natural killer T cells and diminished CD1d expression","volume":"204","author":"Banovic","year":"2011","journal-title":"J. Infect. Dis."},{"key":"2025022606253330000_r59","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1097\/00006454-200008000-00022","article-title":"Disseminated infection with varicella-zoster virus vaccine strain presenting as hepatitis in a child with adenosine deaminase deficiency","volume":"19","author":"Ghaffar","year":"2000","journal-title":"Pediatr. Infect. Dis. J."},{"key":"2025022606253330000_r60","doi-asserted-by":"crossref","first-page":"948","DOI":"10.1086\/378503","article-title":"Disseminated varicella infection due to the vaccine strain of varicella-zoster virus, in a patient with a novel deficiency in natural killer T cells","volume":"188","author":"Levy","year":"2003","journal-title":"J. Infect. Dis."},{"key":"2025022606253330000_r61","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1016\/j.jaci.2013.11.031","article-title":"Vaccine strain varicella-zoster virus-induced central nervous system vasculopathy as the presenting feature of DOCK8 deficiency","volume":"133","author":"Sabry","year":"2014","journal-title":"J. Allergy Clin. Immunol."},{"key":"2025022606253330000_r62","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1111\/cei.12421","article-title":"Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray","volume":"178","author":"Bayer","year":"2014","journal-title":"Clin. Exp. Immunol."},{"key":"2025022606253330000_r63","doi-asserted-by":"crossref","first-page":"ofz295","DOI":"10.1093\/ofid\/ofz295","article-title":"Varicella virus vaccine live: a 22-year review of postmarketing safety data","volume":"6","author":"Woodward","year":"2019","journal-title":"Open Forum Infect. Dis."},{"key":"2025022606253330000_r64","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/j.jaci.2017.08.018","article-title":"CD4 T cell-restricted IL-2 signaling defect in a patient with a novel IFNGR1 deficiency","volume":"141","author":"Khanolkar","year":"2018","journal-title":"J. Allergy Clin. Immunol."},{"key":"2025022606253330000_r65","doi-asserted-by":"crossref","first-page":"146","DOI":"10.4161\/hv.26200","article-title":"Fatal varicella due to the vaccine-strain varicella-zoster virus","volume":"10","author":"Leung","year":"2014","journal-title":"Hum. Vaccin. Immunother."},{"key":"2025022606253330000_r66","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1093\/jpids\/piv032","article-title":"A toddler with rash, encephalopathy, and hemolytic anemia","volume":"4","author":"Smith","year":"2015","journal-title":"J. Pediatric Infect. Dis. Soc."},{"issue":"s2","key":"2025022606253330000_r67","doi-asserted-by":"crossref","first-page":"S165","DOI":"10.1086\/522125","article-title":"The safety profile of varicella vaccine: a 10-year review","volume":"197","author":"Galea","year":"2008","journal-title":"J. Infect. Dis."},{"key":"2025022606253330000_r68","doi-asserted-by":"crossref","first-page":"1444","DOI":"10.1086\/592452","article-title":"Herpes zoster with skin lesions and meningitis caused by 2 different genotypes of the Oka varicella-zoster virus vaccine","volume":"198","author":"Levin","year":"2008","journal-title":"J. Infect. Dis."},{"key":"2025022606253330000_r69","doi-asserted-by":"crossref","first-page":"2038","DOI":"10.1084\/jem.20181621","article-title":"Severe influenza pneumonitis in children with inherited TLR3 deficiency","volume":"216","author":"Lim","year":"2019","journal-title":"J. Exp. Med."},{"key":"2025022606253330000_r70","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.coi.2019.03.008","article-title":"Human inborn errors of immunity to infection affecting cells other than leukocytes: from the immune system to the whole organism","volume":"59","author":"Zhang","year":"2019","journal-title":"Curr. Opin. Immunol."},{"key":"2025022606253330000_r71","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/j.jaci.2019.05.008","article-title":"A novel variant in STAT2 presenting with hemophagocytic lymphohistiocytosis","volume":"144","author":"Alosaimi","year":"2019","journal-title":"J. Allergy Clin. Immunol."},{"key":"2025022606253330000_r72","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1016\/j.cell.2020.06.010","article-title":"Generation of a broadly useful model for COVID-19 pathogenesis, vaccination, and treatment","volume":"182","author":"Sun","year":"2020","journal-title":"Cell"},{"key":"2025022606253330000_r73","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/S0092-8674(00)81289-1","article-title":"Targeted disruption of the mouse Stat1 gene results in compromised innate immunity to viral disease","volume":"84","author":"Durbin","year":"1996","journal-title":"Cell"}],"container-title":["The Journal of Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jimmunol\/article-pdf\/207\/1\/133\/61366545\/ji2001451.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jimmunol\/article-pdf\/207\/1\/133\/61366545\/ji2001451.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,26]],"date-time":"2025-02-26T06:26:48Z","timestamp":1740551208000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jimmunol\/article\/207\/1\/133\/7944503"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,1]]},"references-count":73,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,7,1]]}},"URL":"https:\/\/doi.org\/10.4049\/jimmunol.2001451","relation":{},"ISSN":["0022-1767","1550-6606"],"issn-type":[{"value":"0022-1767","type":"print"},{"value":"1550-6606","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2021,7]]},"published":{"date-parts":[[2021,7,1]]}}}