Reviewing Omenn syndrome

Omenn syndrome is a form of severe combined immunodeficiency associated wit h high mortality. Early recognition is required in order to initiate life-s aving therapy. This review provides information on the clinical symptoms, l aboratory parameters and pathology of the disease. supporting early diagnos is in suspected patients. A literature search was performed using Medline. encompassing the period 1965-1999. Sixty-seven cases were identified and wi th the addition of a recently diagnosed patient at our hospital, 68 childre n were included. Median age at onset of symptoms was 4 weeks. Key symptoms were erythematous rash (98%), hepatosplenomegaly (88%), lymphadenopathy (80 %), often accompanied by recurrent infections (72%) and alopecia (57%). An elevated WBC (55%) was frequently observed. due to eosinophilia and/or lymp hocytosis. B-cell counts were significantly decreased whereas T-cell counts were elevated. A high serum IgE was another frequent finding (91%). Therap eutic options include bone marrow transplantation or cord blood stem cell t ransplantation, however, the mortality still was 46%. Conclusion: Omenn syn drome is a fatal disease if untreated. The mortality may be reduced when di agnosis is established early and treatment is initiated rapidly by using ea rly compatible bone marrow transplantation or cord blood stem cell transpla ntation.