CARMIL2-related immunodeficiency manifesting with photosensitivity.

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.

SUBMITTER: Shayegan LH 

PROVIDER: S-EPMC7599087 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature