CARMIL2-related immunodeficiency manifesting with photosensitivity.

PEDIATRIC DERMATOLOGY(2020)

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摘要
We report a case of a newly recognized primary immunodeficiency due to biallelic mutations in CARMIL2 manifesting as an actinic prurigo-like photodermatitis, allergic diathesis and recurrent infections in a child. We present this case to highlight a rare phenotype seen in this T-cell immunodeficiency and provide an overview of other dermatologic manifestations among published reports of this condition.
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关键词
eczema,genodermatoses,immunodeficiency
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