Hepatitis in the polyendocrine syndrome type 1

Autoimmune polyendocrine syndrome type 1 (APS1) is an autosomal recessive disorder, which is caused by mutations in a single gene, called autoimmune regulator (AIRE)1,2 .The AIREgene locus is located on the long arm of chromosome 21 and codes for a transcriptional regulator, which is expressed in thymus, lymph nodes, spleen and fetal liver3. The AIREgene locus is believed to be involved in the establishment and maintenance of tolerance3. Absence of a functional AIRE protein results in a complex syndrome with mucocutaneous candidiasis and autoimmune diseases in a single patient12. Most patients with APS 1 are affected by two to six different autoimmune diseases, most of which affect endocrine glands such as parathyroids, adrenals or ovaries4. Ectodermal disease components are found with a high prevalence such as hypoplasia of the dental enamel, nail dystrophy, keratopathy, alopecia and vitiligo4. Less frequent, but severe disease components are disease manifestations which affect the gastrointestinal tract, e.g. malabsorption and hepatitis. Malabsorption may interfere with the treatment of other autoimmune diseases and cause malnutrition in severe cases5. Hepatitis may be mild. However, repeatedly patients were reported who developed lethal fulminant