Pediatr Allergy Respir Dis.  2005 Jun;15(2):174-179.

A Case of Omenn Syndrome in a Patient Treated for Chronic Diarrhea and Severe Exfoliative Erythrodermia

• Yum MS
• Lee SY
• Kim HB
• Yoo HW
• Ghim T
• Hong SJ

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.

Keyword

Omenn syndrome; Severe combined immunodeficiency; Eosinophilia; Erythrodermia; Recombination activating genes

MeSH Terms

Alleles
Diarrhea*
Eosinophilia
Humans
Immunoglobulin E
Infant
Lymphatic Diseases
Male
Mortality
Sepsis
Severe Combined Immunodeficiency*
Stem Cell Transplantation
T-Lymphocytes
Immunoglobulin E