CARMIL2-related immunodeficiency manifesting with photosensitivity

Pediatr Dermatol. 2020 Jul;37(4):695-697. doi: 10.1111/pde.14173. Epub 2020 Apr 27.

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.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Humans
  • Immunologic Deficiency Syndromes* / diagnosis
  • Immunologic Deficiency Syndromes* / genetics
  • Photosensitivity Disorders* / diagnosis
  • Photosensitivity Disorders* / genetics
  • Prurigo*
  • Skin Diseases, Genetic*