CARMIL2-related immunodeficiency manifesting with photosensitivity

Leila H. Shayegan, Maria C. Garzon, Kimberly D. Morel, Rachel Borlack, Patricia M. Vuguin, Kara G. Margolis, Yesim Y. Demirdag, Elaine M. Pereira, Christine T. Lauren

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)695-697
Number of pages3
JournalPediatric Dermatology
Issue number4
StatePublished - Jul 1 2020


  • eczema
  • genodermatoses
  • immunodeficiency

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology


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