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CARMIL2‐related immunodeficiency manifesting with photosensitivity.

Authors :
Shayegan, Leila H.
Garzon, Maria C.
Morel, Kimberly D.
Borlack, Rachel
Vuguin, Patricia M.
Margolis, Kara G.
Demirdag, Yesim Y.
Pereira, Elaine M.
Lauren, Christine T.
Source :
Pediatric Dermatology. Jul2020, Vol. 37 Issue 4, p695-697. 3p. 2 Color Photographs.
Publication Year :
2020

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
07368046
Volume :
37
Issue :
4
Database :
Academic Search Index
Journal :
Pediatric Dermatology
Publication Type :
Academic Journal
Accession number :
144749223
Full Text :
https://doi.org/10.1111/pde.14173