Omenn syndrome

Omenn syndrome is a rare immunodeficiency disease associated with recombination activating gene.

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Symptoms

Symptoms include:

• Desquamation (shedding the outer layers of skin)
• Chronic diarrhea
• Erythroderma (widespread reddening of the skin)
• Hepatosplenomegaly (simultaneous enlargement of both the liver and the spleen)
• Leukocytosis (elevation of the white blood cell count)
• Lymphadenopathy (swelling of one or more lymph nodes)
• Repeated bacterial infections

Treatment

Omenn syndrome is among the diseases treated with bone marrow transplantation and cord blood stem cells.