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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.

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This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice.

Adapted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition 
Copyright ©2019 by Immune Deficiency Foundation, USA