Pas/APO1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis

L. Pensati, A. Costanzo, A. Ianni, D. Accapezzato, R. Iorio, G. Natoli, R. Nisini, C. Almerighi, E. Balsano, P. Vajro, A. Vegnente, M. Levrero

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)1384-1389
Number of pages6
JournalGastroenterology
Volume113
Issue number4
DOIs
Publication statusPublished - 1997

ASJC Scopus subject areas

  • Gastroenterology

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