Atypical Omenn Syndrome Due to RAG2 Gene Mutation, a Case Report.

We present a novel case of atypical SCID (SCID manifestations with more than 300 CD3+T cells) caused by RAG 2 gene mutation whose immunophenotype changed to atypical Omenn syndrome (all Omenn syndrome manifestations except rash, eosinophilia, and elevated IgE) over time. Differentiation of leaky SCID, SCID and Omenn syndrome in RAG mutation genes and overlap manifestations is important in treatment plan and prognosis. PMID: 31885011 [PubMed - in process]
Source: Iranian Journal of Immunology - Category: Allergy & Immunology Tags: Iran J Immunol Source Type: research