Article
Low function of natural killer cells in treated classic Menkes disease.
The Turkish journal of pediatrics - 1 Jan 2020
Bhat Jayalakshmi Narayan, Maertens Paul
Abstract excerpt
BACKGROUND: Menkes disease (MD) is a rare lethal X-linked, multisystem disorder of copper metabolism resulting from mutations in the ATP7A gene. Features such as Ehlers- Danlos syndrome, trichopoliodystrophy, urologic and skeletal changes have been reported. We present a case of classic MD treated with copper infusions who suffered from persistent natural killer (NK) cell dysfunction. CASE: A 2-year-old,...
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