Journal article
Leila H Shayegan, M. Garzon, K. Morel, Rachel E. Borlack, P. Vuguin, K. Margolis, Y. Demirdag, E. Pereira, C. Lauren
Pediatric dermatology, 2020
Pediatric dermatology, 2020
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APA
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Shayegan, L. H., Garzon, M., Morel, K., Borlack, R. E., Vuguin, P., Margolis, K., … Lauren, C. (2020). CARMIL2‐related immunodeficiency manifesting with photosensitivity. Pediatric Dermatology.
Chicago/Turabian
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Shayegan, Leila H, M. Garzon, K. Morel, Rachel E. Borlack, P. Vuguin, K. Margolis, Y. Demirdag, E. Pereira, and C. Lauren. “CARMIL2‐Related Immunodeficiency Manifesting with Photosensitivity.” Pediatric dermatology (2020).
MLA
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Shayegan, Leila H., et al. “CARMIL2‐Related Immunodeficiency Manifesting with Photosensitivity.” Pediatric Dermatology, 2020.
BibTeX Click to copy
@article{leila2020a,
title = {CARMIL2‐related immunodeficiency manifesting with photosensitivity},
year = {2020},
journal = {Pediatric dermatology},
author = {Shayegan, Leila H and Garzon, M. and Morel, K. and Borlack, Rachel E. and Vuguin, P. and Margolis, K. and Demirdag, Y. and Pereira, E. and Lauren, C.}
}
Abstract
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.
