{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T17:01:19Z","timestamp":1789664479723,"version":"4.0.1"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,10,4]],"date-time":"2024-10-04T00:00:00Z","timestamp":1728000000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,10,4]],"date-time":"2024-10-04T00:00:00Z","timestamp":1728000000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2016\/22158-3"],"award-info":[{"award-number":["2016\/22158-3"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2016\/22158-3"],"award-info":[{"award-number":["2016\/22158-3"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2016\/22158-3"],"award-info":[{"award-number":["2016\/22158-3"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2016\/22158-3"],"award-info":[{"award-number":["2016\/22158-3"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2016\/22158-3"],"award-info":[{"award-number":["2016\/22158-3"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2016\/22158-3"],"award-info":[{"award-number":["2016\/22158-3"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1007\/s10875-024-01811-9","type":"journal-article","created":{"date-parts":[[2024,10,4]],"date-time":"2024-10-04T06:01:52Z","timestamp":1728021712000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["First Brazilian Case Report of Unrelated Patients with Identical ISG15 Mutation"],"prefix":"10.1007","volume":"45","author":[{"given":"Sarah Maria da Silva","family":"Napoleao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ranieri Coelho","family":"Salgado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janaira Fernandes Severo","family":"Ferreira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayra","family":"de Barros Dorna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thais Costa Lima","family":"de Moura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00e1bata Takahashi","family":"Fran\u00e7a","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucila Akune","family":"Barreiros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lillian Nunes","family":"Gomes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Condino-Neto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,10,4]]},"reference":[{"key":"1811_CR1","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1016\/j.smim.2014.09.008","volume":"26","author":"J Bustamante","year":"2014","unstructured":"Bustamante J, Boisson-Dupuis S, Abel L, et al. Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-gamma immunity. Seminary Immunol. 2014;26:454\u201370.","journal-title":"Seminary Immunol"},{"key":"1811_CR2","doi-asserted-by":"publisher","unstructured":"Hatipoglu N, Guvenc BH, Deswarte C, et al. Inherited IL-12Rbeta1 deficiency in a child with BCG adenitis and oral candidiasis: a case report. Pediatrics. 2017;(5):140 https:\/\/doi.org\/10.1542\/peds.2016-1668.","DOI":"10.1542\/peds.2016-1668"},{"key":"1811_CR3","doi-asserted-by":"publisher","first-page":"460","DOI":"10.1007\/s10875-018-0509-8","volume":"38","author":"B Glanzmann","year":"2018","unstructured":"Glanzmann B, Moller M, Moncada-Velez M, et al. Autosomal dominant IFN-gammaR1 deficiency presenting with both atypical mycobacteriosis and tuberculosis in a BCG-vaccinated South African patient. J Clin Immunol. 2018;38:460\u20133.","journal-title":"J Clin Immunol"},{"key":"1811_CR4","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1111\/imr.12272","volume":"264","author":"S Boisson-Dupuis","year":"2015","unstructured":"Boisson-Dupuis S, Bustamante J, El-Baghdadi J, et al. Inherited and acquired immunodeficiencies underlying tuberculosis in childhood. Immunol Rev. 2015;264:103\u201320.","journal-title":"Immunol Rev"},{"key":"1811_CR5","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1016\/j.ejphar.2011.03.043","volume":"660","author":"AC Almeida","year":"2011","unstructured":"Almeida AC, Cabral Marques O, Arslanian C, Condino-Neto C, Ximenes VF. 4-fluoro-2-methoxyphenol, an apocynin analog with enhanced inhibitory effect on leukocyte oxidant production and phagocytosis. Eur J Pharm. 2011;660:445\u201353.","journal-title":"Eur J Pharm"},{"issue":"6\u20137","key":"1811_CR6","doi-asserted-by":"publisher","first-page":"993","DOI":"10.1007\/s00439-020-02120-y","volume":"139","author":"J Bustamante","year":"2020","unstructured":"Bustamante J. Mendelian susceptibility to mycobacterial disease: recent discoveries. Human Genet. 2020;139(6\u20137):993\u20131000. https:\/\/doi.org\/10.1007\/s00439-020-02120-y.","journal-title":"Human Genet"},{"key":"1811_CR7","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1016\/j.coi.2021.07.001","volume":"72","author":"S Boisson-Dupuis","year":"2021","unstructured":"Boisson-Dupuis S, Bustamante J. Mycobacterial diseases in patients with inborn errors of immunity. Curr Opin Immunol. 2021;72:262\u201371. https:\/\/doi.org\/10.1016\/j.coi.2021.07.001.","journal-title":"Curr Opin Immunol"},{"issue":"3","key":"1811_CR8","doi-asserted-by":"publisher","first-page":"203","DOI":"10.3390\/pathogens13030203","volume":"13","author":"A Dalvi","year":"2024","unstructured":"Dalvi A, Bargir UA, Natraj G, Shah I, Madkaikar M. Diagnosis and management of infections in patients with mendelian susceptibility to mycobacterial disease. Pathogens. 2024;13(3):203. https:\/\/doi.org\/10.3390\/pathogens13030203.","journal-title":"Pathogens."},{"key":"1811_CR9","doi-asserted-by":"publisher","first-page":"360","DOI":"10.1111\/imcb.12210","volume":"97","author":"J Rosain","year":"2019","unstructured":"Rosain J, et al. Mendelian susceptibility to mycobacterial disease: 2014\u20132018 update. Immunol Cell Biol. 2019;97:360\u20137.","journal-title":"Immunol Cell Biol"},{"issue":"3","key":"1811_CR10","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1016\/j.cell.2022.12.038","volume":"186","author":"J Rosain","year":"2023","unstructured":"Rosain J, Neehus AL, Manry J, et al. Human IRF1 governs macrophagic IFN-\u03b3 immunity to mycobacteria. Cell. 2023;186(3):621-645.e33. https:\/\/doi.org\/10.1016\/j.cell.2022.12.038.","journal-title":"Cell."},{"key":"1811_CR11","doi-asserted-by":"publisher","first-page":"3158","DOI":"10.1172\/JCI135460","volume":"130","author":"G Kerner","year":"2020","unstructured":"Kerner G, Rosain J, Gu\u00e9rin A, Al-Khabaz A, Oleaga-Quintas C, Rapaport F, Massaad MJ, Ding J-Y, Khan T, Ali FA, et al. Inherited human IFN-\u03b3 deficiency underlies mycobacterial disease. J Clin Investig. 2020;130:3158\u201371. https:\/\/doi.org\/10.1172\/JCI135460.","journal-title":"J Clin Investig"},{"key":"1811_CR12","doi-asserted-by":"publisher","first-page":"1826","DOI":"10.1016\/j.cell.2020.10.046","volume":"183","author":"R Yang","year":"2020","unstructured":"Yang R, Mele F, Worley L, Langlais D, Rosain J, Benhsaien I, Elarabi H, Croft CA, Doisne J-M, Zhang P, et al. Human T-Bet Governs Innate and Innate-like Adaptive IFN-\u03b3 Immunity against Mycobacteria. Cell. 2020;183:1826-1847.e31. https:\/\/doi.org\/10.1016\/j.cell.2020.10.046.","journal-title":"Cell"},{"key":"1811_CR13","doi-asserted-by":"publisher","first-page":"e2102804118","DOI":"10.1073\/pnas.2102804118","volume":"118","author":"TL Voyer","year":"2021","unstructured":"Voyer TL, Neehus A-L, Yang R, Ogishi M, Rosain J, Alroqi F, Alshalan M, Blumental S, Ali FA, Khan T, et al. Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease. Proc Natl Acad Sci USA. 2021;118:e2102804118. https:\/\/doi.org\/10.1073\/pnas.2102804118.","journal-title":"Proc Natl Acad Sci USA"},{"issue":"6","key":"1811_CR14","doi-asserted-by":"publisher","first-page":"107633","DOI":"10.1016\/j.celrep.2020.107633","volume":"31","author":"M Martin-Fernandez","year":"2020","unstructured":"Martin-Fernandez M, Bravo Garc\u00eda-Morato M, Gruber C, et al. Systemic type I IFN inflammation in human ISG15 deficiency leads to necrotizing skin lesions. Cell Rep. 2020;31(6):107633. https:\/\/doi.org\/10.1016\/j.celrep.2020.107633.","journal-title":"Cell Rep"},{"issue":"2","key":"1811_CR15","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.it.2016.11.001","volume":"38","author":"M Hermann","year":"2017","unstructured":"Hermann M, Bogunovic D. ISG15: In sickness and in health. Trends Immunol. 2017;38(2):79\u201393. https:\/\/doi.org\/10.1016\/j.it.2016.11.001.","journal-title":"Trends Immunol."},{"issue":"4","key":"1811_CR16","doi-asserted-by":"publisher","first-page":"e20211273","DOI":"10.1084\/jem.20211273","volume":"219","author":"M Martin-Fernandez","year":"2022","unstructured":"Martin-Fernandez M, Buta S, Bogunovic D, et al. A partial form of inherited human USP18 deficiency underlies infection and inflammation. J Exp Med. 2022;219(4):e20211273. https:\/\/doi.org\/10.1084\/jem.20211273.","journal-title":"J Exp Med."},{"key":"1811_CR17","doi-asserted-by":"publisher","first-page":"1684","DOI":"10.1126\/science.1224026","volume":"337","author":"D Bogunovic","year":"2012","unstructured":"Bogunovic D, Byun M, Durfee LA, Abhyankar A, Sanal O, Mansouri D, et al. Mycobacterial disease and impaired IFN-\u03b3 immunity in humans with inherited ISG15 deficiency. Science. 2012;337:1684\u20138. https:\/\/doi.org\/10.1126\/science.1224026.","journal-title":"Science"},{"issue":"3","key":"1811_CR18","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1016\/j.molcel.2017.10.003","volume":"68","author":"CD Swaim","year":"2017","unstructured":"Swaim CD, Scott AF, Canadeo LA, Huibregtse JM. Extracellular ISG15 signals cytokine secretion through the LFA-1 integrin receptor. Mol Cell. 2017;68(3):581-590.e5. https:\/\/doi.org\/10.1016\/j.molcel.2017.10.003.","journal-title":"Mol Cell"},{"key":"1811_CR19","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1038\/nature13801","volume":"517","author":"X Zhang","year":"2015","unstructured":"Zhang X, Bogunovic D, Payelle-Brogard B, Francois-Newton V, Speer SD, Yuan C, et al. Human intracellular ISG15 prevents interferon-\u03b1\/\u03b2 over-amplification and auto-inflammation. Nature. 2015;517:89\u201393. https:\/\/doi.org\/10.1038\/nature13801.","journal-title":"Nature"},{"key":"1811_CR20","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1038\/cr.2012.133","volume":"23","author":"JB Fan","year":"2013","unstructured":"Fan JB, Zhang DE. ISG15 regulates IFN-\u03b3 immunity in human mycobacterial disease. Cell Res. 2013;23:173\u20135. https:\/\/doi.org\/10.1038\/cr.2012.133.","journal-title":"Cell Res"},{"issue":"7","key":"1811_CR21","doi-asserted-by":"publisher","first-page":"1473","DOI":"10.1007\/s10875-022-01289-3","volume":"42","author":"SG Tangye","year":"2022","unstructured":"Tangye SG, Al-Herz W, Bousfiha A, et al. Human Inborn Errors of immunity: 2022 update on the classification from the international union of immunological societies expert committee. J Clin Immunol. 2022;42(7):1473\u2013507. https:\/\/doi.org\/10.1007\/s10875-022-01289-3.","journal-title":"J Clin Immunol"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-024-01811-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10875-024-01811-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-024-01811-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T15:44:51Z","timestamp":1777304691000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10875-024-01811-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,4]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["1811"],"URL":"https:\/\/doi.org\/10.1007\/s10875-024-01811-9","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,4]]},"assertion":[{"value":"10 August 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 September 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 October 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of Interest"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}],"article-number":"21"}}