Diagnosing Omenn syndrome

Pediatr Dermatol. 2021 Mar;38(2):541-543. doi: 10.1111/pde.14401. Epub 2021 Jan 29.


Omenn syndrome is a rare combined immunodeficiency mostly associated with RAG1 and RAG2 mutations; the clinical manifestations are well-described and include neonatal erythroderma. Mortality due to opportunistic infections is a serious risk, and a timely diagnosis with a skin biopsy is an important part of the diagnostic workup. We wish to highlight key clinical features of Omenn syndrome and discuss the relevance of a skin biopsy.

Keywords: erythroderma; genetic diseases/mechanisms; immunodeficiency; neonatal.

MeSH terms

  • Dermatitis, Exfoliative*
  • Homeodomain Proteins / genetics
  • Humans
  • Infant, Newborn
  • Mutation
  • Severe Combined Immunodeficiency* / diagnosis
  • Syndrome


  • Homeodomain Proteins