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J Allergy Clin Immunol 117: 883-896, 2006.","DOI":"10.1016\/j.jaci.2005.12.1347"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Flanagan SE, Haapaniemi E, Russell MA, et al. Activating germline mutations in <i>STAT3<\/i> cause early-onset multi-organ autoimmune disease. Nat Genet 46: 812-814, 2014.","DOI":"10.1038\/ng.3040"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Forbes LR, Milner J, Haddad E. Signal transducer and activator of transcription 3: a year in review. Curr Opin Hematol 23: 23-27, 2016.","DOI":"10.1097\/MOH.0000000000000206"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Fabre A, Marchal S, Barlogis V, et al. Clinical aspects of STAT3 gain-of-function germline mutations: a systematic review. J Allergy Clin Immunol Pract 7: 1958-1969.e9, 2019.","DOI":"10.1016\/j.jaip.2019.02.018"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Adjemian J, Daniel-Wayman S, Ricotta E, Prevots DR. Epidemiology of nontuberculous mycobacteriosis. Semin Respir Crit Care Med 39: 325-335, 2018.","DOI":"10.1055\/s-0038-1651491"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Dahl VN, M\u00f8lhave M, Fl\u00f8e A, et al. Global trends of pulmonary infections with nontuberculous mycobacteria: a systematic review. Int J Infect Dis 125: 120-131, 2022.","DOI":"10.1016\/j.ijid.2022.10.013"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Griffith DE, Aksamit T, Brown-Elliott BA, et al.; ATS Mycobacterial Diseases Subcommittee, American Thoracic Society, Infectious Disease Society of America. An official ATS\/IDSA statement: diagnosis, treatment, and prevention of nontuberculous mycobacterial diseases. Am J Respir Crit Care Med 175: 367-416, 2007.","DOI":"10.1164\/rccm.200604-571ST"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Daley CL, Iaccarino JM, Lange C, et al. Treatment of Nontuberculous Mycobacterial Pulmonary Disease: An Official ATS\/ERS\/ESCMID\/IDSA Clinical Practice Guideline. Clin Infect Dis 71: e1-e36, 2020.","DOI":"10.1093\/cid\/ciaa241"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Browne SK, Burbelo PD, Chetchotisakd P, et al. Adult-onset immunodeficiency in Thailand and Taiwan. N Engl J Med 367: 725-734, 2012.","DOI":"10.1056\/NEJMoa1111160"},{"key":"12","unstructured":"12. Leiding JW, Vogel TP, Santarlas VGJ, et al. Monogenic early-onset lymphoproliferation and autoimmunity: natural history of STAT3 gain-of-function syndrome. J Allergy Clin Immunol 151: 1081-1095, 2023."},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Koskela HLM, Eldfors S, Ellonen P, et al. Somatic STAT3 mutations in large granular lymphocytic leukemia. N Engl J Med 366: 1905-1913, 2012.","DOI":"10.1056\/NEJMoa1114885"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Dutzmann J, Daniel JM, Bauersachs J, Hilfiker-Kleiner D, Sedding DG. Emerging translational approaches to target STAT3 signalling and its impact on vascular disease. Cardiovasc Res 106: 365-374, 2015.","DOI":"10.1093\/cvr\/cvv103"},{"key":"15","doi-asserted-by":"publisher","unstructured":"15. McLornan DP, Pope JE, Gotlib J, Harrison CN. Current and future status of JAK inhibitors. Lancet 398: 803-816, 2021.","DOI":"10.1016\/S0140-6736(21)00438-4"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Gadina M, Le MT, Schwartz DM, et al. Janus kinases to jakinibs: from basic insights to clinical practice. Rheumatology (Oxford) 58 (Suppl 1): i4-i16, 2019.","DOI":"10.1093\/rheumatology\/key432"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Tanaka Y, Luo Y, O&apos;Shea JJ, Nakayamada S. Janus kinase-targeting therapies in rheumatology: a mechanisms-based approach. Nat Rev Rheumatol 18: 133-145, 2022.","DOI":"10.1038\/s41584-021-00726-8"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Hernandez-Rocha C, Vande Casteele N. JAK inhibitors: current position in treatment strategies for use in inflammatory bowel disease. Curr Opin Pharmacol 55: 99-109, 2020.","DOI":"10.1016\/j.coph.2020.10.010"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Mikhaylov D, Ungar B, Renert-Yuval Y, Guttman-Yassky E. Oral Janus kinase inhibitors for atopic dermatitis. Ann Allergy Asthma Immunol 130: 577-592, 2023.","DOI":"10.1016\/j.anai.2023.01.020"},{"key":"20","unstructured":"20. RECOVERY Collaborative Group. Baricitinib in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial and updated meta-analysis. Lancet 400: 359-368, 2022."},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Kaneko S, Sakura F, Tanita K, et al. 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Cohen SB, Tanaka Y, Mariette X, et al. Long-term safety of tofacitinib up to 9.5 years: a comprehensive integrated analysis of the rheumatoid arthritis clinical development programme. RMD Open 6: e001395, 2020.","DOI":"10.1136\/rmdopen-2020-001395"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Fujii W, Chang L, Inui TA, Ishizaka S, Kawahito Y. Cervical lymphadenitis caused by <i>Mycobacterium avium<\/i> in a patient treated with Janus kinase inhibitors. Int J Infect Dis 133: 57-59, 2023.","DOI":"10.1016\/j.ijid.2023.05.006"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26. Gonzalez-Mancera MS, Johnson B, Mirsaeidi M. STAT3 gain-of-function mutation in a patient with pulmonary <i>Mycobacterium abscessus<\/i> infection. Respir Med Case Rep 30: 101125, 2020.","DOI":"10.1016\/j.rmcr.2020.101125"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27. Haapaniemi EM, Kaustio M, Rajala HL, et al. 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Kaji M, Namkoong H, Nagao G, et al. Nasopharyngeal <i>Mycobacterium abscessus<\/i> infection: a case report and literature review. Infect Drug Resist 16: 3955-3963, 2023.","DOI":"10.2147\/IDR.S415197"},{"key":"32","doi-asserted-by":"crossref","unstructured":"32. Dandapat MC, Mishra BM, Dash SP, Kar PK. Peripheral lymph node tuberculosis: a review of 80 cases. Br J Surg 77: 911-912, 1990.","DOI":"10.1002\/bjs.1800770823"},{"key":"33","doi-asserted-by":"crossref","unstructured":"33. Hermansen TS, Ravn P, Svensson E, Lillebaek T. Nontuberculous mycobacteria in Denmark, incidence and clinical importance during the last quarter-century. Sci Rep 7: 6696, 2017.","DOI":"10.1038\/s41598-017-06931-4"},{"key":"34","doi-asserted-by":"crossref","unstructured":"34. Fukushima K, Matsumoto Y, Abe Y, et al. Variability of macrolide-resistant profile in <i>Mycobacterium avium<\/i> complex pulmonary disease. Antimicrob Agents Chemother 68: e0121324, 2024.","DOI":"10.1128\/aac.01213-24"},{"key":"35","doi-asserted-by":"crossref","unstructured":"35. Omar S, Whitfield MG, Nolan MB, et al. Bedaquiline for treatment of non-tuberculous mycobacteria (NTM): a systematic review and meta-analysis. J Antimicrob Chemother 79: 211-240, 2024.","DOI":"10.1093\/jac\/dkad372"},{"key":"36","doi-asserted-by":"crossref","unstructured":"36. Zweijpfenning SMH, Aarnoutse R, Boeree MJ, et al. Safety and efficacy of clofazimine as an alternative for rifampicin in <i>Mycobacterium avium<\/i> complex pulmonary disease treatment: outcomes of a randomized trial. Chest 165: 1082-1092, 2024.","DOI":"10.1016\/j.chest.2023.11.038"},{"key":"37","doi-asserted-by":"crossref","unstructured":"37. Watanabe F, Furuuchi K, Hanada K, et al. Pharmacokinetics and adverse effects of clofazimine in the treatment of pulmonary non-tuberculous mycobacterial infection. Antimicrob Agents Chemother 66: e0044122, 2022.","DOI":"10.1128\/aac.00441-22"},{"key":"38","doi-asserted-by":"crossref","unstructured":"38. Xu J, Koval A, Katanaev VL. Clofazimine: a journey of a drug. Biomed Pharmacother 167: 115539, 2023.","DOI":"10.1016\/j.biopha.2023.115539"},{"key":"39","doi-asserted-by":"crossref","unstructured":"39. Cariello PF, Kwak EJ, Abdel-Massih RC, Silveira FP. Safety and tolerability of clofazimine as salvage therapy for atypical mycobacterial infection in solid organ transplant recipients. Transpl Infect Dis 17: 111-118, 2015.","DOI":"10.1111\/tid.12340"},{"key":"40","doi-asserted-by":"crossref","unstructured":"40. McGuffin SA, Pottinger PS, Harnisch JP. Clofazimine in nontuberculous mycobacterial infections: a growing niche. Open Forum Infect Dis 4: ofx147, 2017.","DOI":"10.1093\/ofid\/ofx147"},{"key":"41","doi-asserted-by":"crossref","unstructured":"41. Martiniano SL, Wagner BD, Levin A, Nick JA, Sagel SD, Daley CL. Safety and effectiveness of clofazimine for primary and refractory nontuberculous mycobacterial infection. Chest 152: 800-809, 2017.","DOI":"10.1016\/j.chest.2017.04.175"},{"key":"42","doi-asserted-by":"crossref","unstructured":"42. Asakura T, Suzuki S, Fukano H, et al. Sitafloxacin-containing regimen for the treatment of refractory <i>Mycobacterium avium<\/i> complex lung disease. Open Forum Infect Dis 6: ofz108, 2019.","DOI":"10.1093\/ofid\/ofz108"},{"key":"43","doi-asserted-by":"crossref","unstructured":"43. Fujita K, Fujita M, Ito Y, et al. Preliminary evaluation of a sitafloxacin-containing regimen for relapsed or refractory pulmonary <i>Mycobacterium avium<\/i> complex disease. Open Forum Infect Dis 3: ofw147, 2016.","DOI":"10.1093\/ofid\/ofw147"},{"key":"44","doi-asserted-by":"crossref","unstructured":"44. Sano C, Tatano Y, Shimizu T, Yamabe S, Sato K, Tomioka H. Comparative in vitro and in vivo antimicrobial activities of sitafloxacin, gatifloxacin and moxifloxacin against <i>Mycobacterium avium<\/i>. 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