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Data Availability
The data that support the findings of this study are available on request from the corresponding author.
References
Blancas-Galicia L, Santos-Chavez E, Deswarte C, Mignac Q, Medina-Vera I, Leon-Lara X, et al. Genetic, immunological, and clinical features of the first Mexican cohort of patients with chronic granulomatous disease. J Clin Immunol. 2020;40(3):475–93.
Hui X, Yang J, Zhang J, Sun J, Wang X. Optical genomic mapping identified a heterozygous structural variant in NCF2 related to chronic granulomatous disease. J Clin Immunol. 2022;42(8):1614–7.
LASID. LASID registry. Brasil. 2023. p. https://lasidregistry.org/lasid/home. Accessed Oct 2023.
Borgato L, Bonizzato A, Lunardi C, Dusi S, Andrioli G, Scarperi A, et al. A 1.1-kb duplication in the p67-phox gene causes chronic granulomatous disease. Hum Genet. 2001;108(6):504–10.
Roth IL, Salamon P, Freund T, Gadot YB, Baron S, Hershkovitz T, et al. Novel NCF2 mutation causing chronic granulomatous disease. J Clin Immunol. 2020;40(7):977–86.
van de Geer A, Nieto-Patlan A, Kuhns DB, Tool AT, Arias AA, Bouaziz M, et al. Inherited p40phox deficiency differs from classic chronic granulomatous disease. J Clin Invest. 2018;128(9):3957–75.
Acknowledgements
We would like to thank the patients and their families.
Consortium authors
Sara Espinosa Padilla2
Antonio Condino Neto3
Consortium affiliations
2Laboratory of Immunodeficiencies, National Institute of Pediatrics, Mexico City, Mexico2
3Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, SP, Brazil
ORCID of the authors:
Sara Espinosa Padilla: 0000-0003-4859-3151
Antonio Condino-Neto: 0000-0002-1069-3117
Funding
SEP and LBG are SNI-CONACYT members. FUMENI A.C. funded this work.
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LBG drafted the manuscript, CSF and MJJ performed the genetic diagnosis, MAVH diagnosed and treated the patients, and LBG and SEP supervised this study. All the authors have discussed, revised, and approved the manuscript.
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10875_2023_1624_MOESM1_ESM.pptx
Supplementary file1 (PPTX 112 KB) Supplementary Figure 1. A. Dihydrorhodamine (DHR) test for healthy controls and patients. The histogram without stimulation is represented in solid gray and with phorbol-myristate-acetate (PMA) as a dotted black line. B. Dihydrorhodamine (DHR) test in healthy controls and patients. The histogram without stimulation is represented in solid gray and with zymosan as a dotted black line. C. Intracellular staining of p67phox in peripheral blood (flow cytometry) of healthy controls and patients. The solid gray histogram represents the unstained condition, and the dotted black line represents anti-p67phox staining.
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Venancio Hernández, M.A., Sanchez Flores, C., Jiménez Juárez, M. et al. Duplication of Exons 8–9 in NCF2 Leading to Incomplete Clinical Penetrance in Chronic Granulomatous Disease. J Clin Immunol 44, 14 (2024). https://doi.org/10.1007/s10875-023-01624-2
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DOI: https://doi.org/10.1007/s10875-023-01624-2