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CARMIL2-related immunodeficiency manifesting with photosensitivity |
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| Authors: | Leila H Shayegan BA MD Candidate Maria C Garzon MD Kimberly D Morel MD Rachel Borlack MD Patricia M Vuguin MD Kara G Margolis MD Yesim Y Demirdag MD Elaine M Pereira MD Christine T Lauren MD MHA |
| Institution: | 1. Vagelos College of Physicians and Surgeons, Columbia University, New York, New York;2. Departments of Dermatology and Pediatrics, Columbia University Irving Medical Center, New York, New York;3. Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York;4. Division of Pediatric Endocrinology, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York;5. Division of Pediatric Allergy and Immunology, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York;6. Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York |
| 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. |
| Keywords: | eczema genodermatoses immunodeficiency |