Diagnosing Omenn syndrome
Published Date: 29th January 2021
Publication Authors: Walsh ML, Eustace K
Abstract
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.
Cutts, L; Bakshi, A; Walsh, M; Parslew, R; Eustace, K. (2021). Diagnosing Omenn syndrome. Pediatric Dermatology. epub 29 Jan