Abstract
Inherited mutations of the Fas/Apo1/CD95 gene, a cell-surface receptor involved in cell death signaling and in the control of self-reactivity, characterize the recently identified autoimmune lymphoproliferative syndromes. A patient with type 2 autoimmune hepatitis with the immunologic and genetic features of autoimmune lymphoproliferative syndrome is described. The clinical picture was dominated by liver disease with hepatosplenomegaly and positivity for anti-liver-kidney microsome 1 and anti-liver-cytosol 1 antibodies. A marked increase in CD3+CD4-CD8- T lymphocytes and inherited mutations in Fas alleles that led to the expression of a soluble form of the protein were also found. Fas-mediated apoptosis was deficient in the patient as it was in her mother and her sister, who carried the same allele 2 mutation. This observation links type 2 autoimmune hepatitis, an organ- specific disease, with a genetically determined defect in peripheral tolerance control.
Original language | English |
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Pages (from-to) | 1384-1389 |
Number of pages | 6 |
Journal | Gastroenterology |
Volume | 113 |
Issue number | 4 |
DOIs | |
Publication status | Published - 1997 |
ASJC Scopus subject areas
- Gastroenterology