CARMIL2‐related immunodeficiency manifesting with photosensitivity. Issue 4 (27th April 2020)

• Record Type: Journal Article
• 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.
• Is Part Of: Pediatric dermatology. Volume 37:Issue 4(2020)
• Page Start: 695
• Page End: 697
• Publication Date: 2020-04-27
• Subjects: eczema -- genodermatoses -- immunodeficiency; Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.14173
• Languages: English
• ISSNs: 0736-8046

Abstract

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.