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All data generated or analyzed during this study are included in this published article (and its supplementary information files).
References
Asano T, Khourieh J, Zhang P, et al. Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance. J Exp Med. 2021;218(8): e20202592. https://doi.org/10.1084/jem.20202592.
Tsilifis C, Freeman AF, Gennery AR. STAT3 hyper-IgE syndrome-an update and unanswered questions. J Clin Immunol. 2021;41(5):864–80. https://doi.org/10.1007/s10875-021-01051-1.
Mahdaviani SA, Fallahi M, Jamee M, et al. Effective anti-mycobacterial treatment for BCG disease in patients with Mendelian susceptibility to mycobacterial disease (MSMD): a case series. Ann Clin Microbiol Antimicrob. 2022;21:8. https://doi.org/10.1186/s12941-022-00500-y.
Martínez-Barricarte R, Markle JG, Ma CS, et al. Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23. Sci Immunol. 2018;3(30):eaau6759. https://doi.org/10.1126/sciimmunol.aau6759.
Staels F, Lorenzetti F, De Keukeleere K, et al. A novel homozygous stop mutation in IL23R causes Mendelian susceptibility to mycobacterial disease [published online ahead of print, 2022 Jul 13]. J Clin Immunol. 2022. https://doi.org/10.1007/s10875-022-01320-7
Boisson-Dupuis S, Ramirez-Alejo N, Li Z, et al. Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant. Sci Immunol. 2018;3(30):eaau8714. https://doi.org/10.1126/sciimmunol.aau8714.
Acknowledgements
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2Epidemiology and Infectious Diseases Department, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina
3Dermatology Department, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina
4Pathology Department, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina
5Microbiology Department, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina
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All authors contributed to the study conception and design. Material preparation, data collection, and analysis were performed by Luciano Urdinez, Goris Veronica; Silvia Danielian, Matias Oleastro, and all consortium members. The first draft of the manuscript was written by Luciano Urdinez and all authors commented on previous versions of the manuscript. All authors and consortium members read and approved the final manuscript.
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Urdinez, L., Goris, V., Danielian, S. et al. Disseminated BCG Disease in a Patient with Hyper IgE Syndrome due to Dominant-Negative STAT3 Mutation—Case Report. J Clin Immunol 43, 65–68 (2023). https://doi.org/10.1007/s10875-022-01359-6
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DOI: https://doi.org/10.1007/s10875-022-01359-6