CARMIL2-related immunodeficiency manifesting with photosensitivity.
Leila H ShayeganMaria C GarzonKimberly D MorelRachel BorlackPatricia M VuguinKara Gross MargolisYesim Yilmaz DemirdagElaine M PereiraChristine T LaurenPublished in: Pediatric dermatology (2020)
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.