Unusual presentation of Omenn syndrome: case report

Abstract

OS characterized by symptoms of severe combined immunodeficiency (SCID), in association with the cardinal triad of hepatosplenomegaly, lymphadenopathy and erythroderma. Immunological defects are rarely present at birth and generally occur during the first months of life with hyperesinophilia, hypogammaglobulinemia, high IgE levels in spite of lacking circulating B cells. Different mutations are responsible for this syndrome. OS is fatal without hemopiotic stem cell transplantation.