Abstract
We describe a 17 year old patient suffering from Canale-Smith syndrome (CSS) including chronic lymphadenopathy, splenomegaly, hypergammaglobulinemia and recurrent Coombs positive hemolytic crises. The parents are not consanguine, all other family members including two brothers are healthy. Peripheral blood mononuclear cells of the patient showed an increased rate of CD3 positive, CD4/CD8 double negative T-lymphocytes. In vitro assays showed these cells to have an increased rate of spontaneous apoptosis. Though expression of Fas/Apo-1 (CD95) and Fas-ligand (FasL) was detected on RNA- and protein level we found Fas/Apo-1 mediated apoptosis being significantly reduced. Sequencing of the fas/apo-1 gene proved the patient RT and his father to carry a point mutation at position 804 located in exon 9 (death domain) leading to an amino acid substitution. For developing of CSS, a fas/apo-1 mutation seems to be necessary but not sufficient. An additional independent mechanism must be involved in the pathogenesis of human lpr-phenotype.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Corresponding author
Additional information
Edited by S. Nagata
Rights and permissions
About this article
Cite this article
Haas, J., Grunke, M., Frank, C. et al. Increased spontaneous in vitro apoptosis in double negative T cells of humans with a fas/apo-1 mutation. Cell Death Differ 5, 751–757 (1998). https://doi.org/10.1038/sj.cdd.4400426
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.cdd.4400426
Keywords
This article is cited by
-
Successful Artery Embolization in a Patient with Autoimmune Lymphoproliferative Syndrome Associated with Splenic Rupture
Journal of Clinical Immunology (2020)
-
Increased expression of CD154 and FAS in SLE patients’ lymphocytes
Rheumatology International (2009)
-
Induction of apoptosis by spermine-metabolites in primary human blood cells and various tumor cell lines
Apoptosis (2005)
-
CD 95-independent mechanisms of IL-2 deprivation-induced apoptosis in activated human lymphocytes
Cell Death & Differentiation (2000)
-
Lack of CD95/FAS gene somatic mutations in extranodal, nodal and splenic marginal zone B cell lymphomas
Leukemia (2000)