Omenn syndrome

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(ILDS D81.210) | ICD9 = | ICDO = | Image = | Caption = | OMIM = 603554 | OMIM_mult = | MedlinePlus = | eMedicineSubj = ped | eMedicineTopic = 1640 | DiseasesDB = 32676 |Omenn syndrome is a rare immunodeficiency disease associated with recombination activating gene.

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.

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