X-linked immunodeficiency, polyendocrinopathy, enteropathy(IPEX)

Patients have protracted diarrhea, ichthyosiform dermatitis, early-onset insulin-dependent miellitus, thyroiditis, hemolytic anemia, variable autoimmune phenomena and infections. It frequently results in death during infancy or childhood.

Therapeutic options

  • Supportive therapy with total parenteral nutrition, insulin and blood transfusions is beneficial. Allogenic bone marrow transplantation from an HLA-identical person might be a curative option, even in the case of complications.
  • T-cell disorders, eMedicine