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Omenn syndrome

Omenn syndrome is a rare immunodeficiency disease. It is an autosomal recessive form of severe combined immunodeficiency (SCID).

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 (elevated of the white blood cell count)
  • Lymphadenopathy (swelling of one or more lymph nodes)
  • Repeated bacterial infections

Treatment

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

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