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Diagnosing Omenn syndrome.

Pediatric dermatology - 1 Mar 2021

Cutts Louise, Bakshi Arti, Walsh Maeve, Parslew Richard, Eustace Karen

Abstract excerpt

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...

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PMID: 33511666
DOI: 10.1111/pde.14401

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