CARMIL2-related immunodeficiency manifesting with photosensitivity.
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ABSTRACT:
SUBMITTER: Shayegan LH
PROVIDER: S-EPMC7599087 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Publications
CARMIL2-related immunodeficiency manifesting with photosensitivity.
Shayegan Leila H LH Garzon Maria C MC Morel Kimberly D KD Borlack Rachel R Vuguin Patricia M PM Margolis Kara G KG Demirdag Yesim Y YY Pereira Elaine M EM Lauren Christine T CT
Pediatric dermatology 20200427 4
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. ...[more]
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