ImmunoDeficiency Resource (IDR)

Patients with Omenn syndrome present with early onset generalized erythodermia, lymphadenopathy, hepatosplenomegaly, protracted diarrhea, failure to thrive, eosinophilia, increased Ig E levels, defective B and T lymphocyte function, greatly increased numbers of T lymphocytes, and death usually before 5 - 6 months of age. Additional findings include lymphocytosis and histiocytosis within skin and other tissues. Protein loss due to diarrhea and exudative erythrodermia often leads to generalized edema. The presence of a massive inflamatory infiltrate confers to the skin a unique appearance and consistency (pachydermia). Alopecia is a frequent finding. Infections and severe malnutrition are the main causes of death. Septicemia often arising from skin infections is common.