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Updated: Dec 23, 2025

Granulocyte-dependent Autoantibody-induced Skin Blistering
Published on: October 12, 2012
CARMIL2-related immunodeficiency manifesting with photosensitivity
Leila H Shayegan1, Maria C Garzon2, Kimberly D Morel2
1Vagelos College of Physicians and Surgeons, Columbia University, 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.
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