A Case of Omenn Syndrome in a Patient Treated for Chronic Diarrhea and Severe Exfoliative Erythrodermia.
- Author:
Mi sun YUM
1
;
So Yeon LEE
;
Hyo Bin KIM
;
Han Wook YOO
;
Thad GHIM
;
Soo Jong HONG
Author Information
1. Department of Pediatrics, Asan Medical Center, University of Ulsan, College of Medicine, Seoul, korea. sjhong@amc.seoul.net
- Publication Type:Case Report
- Keywords:
Omenn syndrome;
Severe combined immunodeficiency;
Eosinophilia;
Erythrodermia;
Recombination activating genes
- MeSH:
Alleles;
Diarrhea*;
Eosinophilia;
Humans;
Immunoglobulin E;
Infant;
Lymphatic Diseases;
Male;
Mortality;
Sepsis;
Severe Combined Immunodeficiency*;
Stem Cell Transplantation;
T-Lymphocytes
- From:Pediatric Allergy and Respiratory Disease
2005;15(2):174-179
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Omenn syndrome (OS) is a peculiar, autosomal recessive severe combined immunodeficiency (SCID) associated with early-onset, generalized, exudative erythrodermia, lymphadenopathy, hepatosplenomegaly, hypereosinophilia, elevated serum IgE, and normal to highly activated, yet non-functional oligoclonal T cells. Recently, abnormalities in both alleles of either recombinant activating genes (RAG) 1 or RAG2 genes are found in all OS patients. Therapeutic option is stem cell transplantation, however, the mortality is still 40-50 percent. We experienced a case of OS with severe exudative erythrodermia, chronic diarrhea and recurrent septicemia in a 4 months old boy. He showed RAG1 mutation and was treated with stem cell transplantation but died. We report a case of OS with RAG1 mutation.
