A Case of Omenn Syndrome in a Patient Treated for Chronic Diarrhea and Severe Exfoliative Erythrodermia / 소아알레르기및호흡기학회지
Pediatric Allergy and Respiratory Disease
;
: 174-179, 2005.
Article
in Korean
| WPRIM
| ID: wpr-44219
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Immunoglobulin E
/
T-Lymphocytes
/
Mortality
/
Severe Combined Immunodeficiency
/
Sepsis
/
Stem Cell Transplantation
/
Diarrhea
/
Alleles
/
Eosinophilia
/
Lymphatic Diseases
Type of study:
Prognostic study
Limits:
Humans
/
Infant
/
Male
Language:
Korean
Journal:
Pediatric Allergy and Respiratory Disease
Year:
2005
Type:
Article
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