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Journal of Clinical Immunology

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Open Access 28-07-2022 | Letter to Editor

Optical Genomic Mapping Identified a Heterozygous Structural Variant in NCF2 Related to Chronic Granulomatous Disease

Authors: Xiaoying Hui, Jingmin Yang, Jing Zhang, Jinqiao Sun, Xiaochuan Wang

Published in: Journal of Clinical Immunology | Issue 8/2022

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Holland SM. Chronic granulomatous disease. Hematol Oncol Clin North Am. 2013;27(1):89–99, viii.CrossRefPubMed

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.CrossRefPubMed

Badalzadeh M, Fattahi F, Fazlollahi MR, Tajik S, Bemanian MH, Behmanesh F, et al. Molecular analysis of four cases of chronic granulomatous disease caused by defects in NCF-2: the gene encoding the p67-phox. Iran J Allergy Asthma Immunol. 2012;11(4):340–4.PubMed

Gentsch M, Kaczmarczyk A, van Leeuwen K, de Boer M, Kaus-Drobek M, Dagher MC, et al. Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD). Hum Mutat. 2010;31(2):151–8.CrossRefPubMed

Mantere T, Neveling K, Pebrel-Richard C, Benoist M, van der Zande G, Kater-Baats E, et al. Optical genome mapping enables constitutional chromosomal aberration detection. Am J Hum Genet. 2021;108(8):1409–22.CrossRefPubMedPubMedCentral

Title: Optical Genomic Mapping Identified a Heterozygous Structural Variant in NCF2 Related to Chronic Granulomatous Disease
Authors: Xiaoying Hui
Jingmin Yang
Jing Zhang
Jinqiao Sun
Xiaochuan Wang
Publication date: 28-07-2022
Publisher: Springer US
Published in: Journal of Clinical Immunology / Issue 8/2022
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-022-01331-4

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