immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11.

Signs and symptoms

• Chronic diarrhea
• Increased circulating IgE concentration
• Eczematoid dermatitis
• Failure to thrive
• Decreased FOXP3-expressing T cell count
• Immune dysregulation
• Increased total eosinophil count
• Ileus
• Type I diabetes mellitus
• Severe infection

Also known as: Autoimmune enteropathy type 1; DMSD; IDDM-secretory diarrhea syndrome; IPEX; X-linked autoimmunity-allergic dysregulation syndrome