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Male X-chromosome mosaicism leading to carrier phenotype and inheritance of chronic granulomatous disease

Harris, S; Braggins, H; van Leeuwen, K; Gilmour, K; Buckland, MS; Roos, D; Lowe, DM; (2018) Male X-chromosome mosaicism leading to carrier phenotype and inheritance of chronic granulomatous disease. The Journal of Allergy and Clinical Immunology: In Practice , 6 (5) 1775-1777.e1. 10.1016/j.jaip.2018.01.017. Green open access

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Abstract

We present the first description of a male with X-chromosome mosaicism who has clinical features of the X-linked CGD carrier state and passed a CYBB mutation to a daughter and subsequently affected grandson: clinicians should be aware of this possibility.

Type: Article
Title: Male X-chromosome mosaicism leading to carrier phenotype and inheritance of chronic granulomatous disease
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.jaip.2018.01.017
Publisher version: https://doi.org/10.1016/j.jaip.2018.01.017
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Chronic Granulomatous Disease; CGD; mosaicism
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Infection and Immunity
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Infection, Immunity and Inflammation Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10050857
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