Tricho-hepato-enteric syndrome
Related genes: TTC37, SKIV2L
Inheritance pattern: Autosomal recessive
Tricho-hepato-enteric syndrome (THES) is a rare, recessive disorder characterized by chronic diarrhea with poor growth, liver disease, hair and facial abnormalities, and immunodeficiency with impaired antibody function and lymphopenia. Immunoglobulin (Ig) replacement therapy is indicated for the treatment of this disorder. Gastrointestinal disease in THES requires intensive nutritional therapy but seemingly improves with age. Transplantation is, therefore, not generally recommended for THES.
