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.
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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.
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