CARMIL2-related immunodeficiency manifesting with photosensitivity
- 30 June 2020
- journal article
- research article
- Published by Wiley in Pediatric Dermatology
- Vol. 37 (4), 695-697
- https://doi.org/10.1111/pde.14173
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.This publication has 12 references indexed in Scilit:
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