Lymphomas were studied in kindreds with @entity8782 ( @entity8782 ; @entity8782 ), a disorder of lymphocyte homeostasis usually associated with germline Fas mutations. Fas ( @entity1197 / @entity1197 ) is a cell surface receptor that initiates programmed cell death, or apoptosis, of activated lymphocytes. @entity706 phenotype was determined by immunohistochemistry, frequency of CD3(+) @entity404 (-) @entity405 (-) T-cell-receptor alpha/beta cells by flow cytometry, @entity377 sequences of the gene encoding Fas ( @entity1197 , @entity1197 ), and the percentage of lymphocytes undergoing apoptosis in vitro. Of 223 members of 39 families, 130 individuals possessed heterozygous germline Fas mutations. Eleven B-cell and @entity784 of diverse types developed in 10 individuals with mutations in 8 families, up to 48 years after lymphoproliferation was first documented. Their risk of @entity1893 , respectively, was 14 and 51 times greater than expected (each P <.001). Investigation of these 10 @entity1 and their relatives with Fas mutations revealed that all had defective lymphocyte apoptosis and most had other features of @entity8782 . The @entity5 cells retained the heterozygous Fas mutations found in the peripheral blood and manifested defective Fas-mediated killing. These data implicate a role for Fas-mediated apoptosis in preventing B-cell and @entity784 . Inherited defects in receptor-mediated lymphocyte apoptosis represent a newly appreciated risk factor for @entity706 .

The development of @entity706 in families with XXXX with germline Fas mutations and defective lymphocyte apoptosis.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity404 :: ('920', 'Gene') :: ['CD4'] @entity706 :: ('MESH:D008223', 'Disease') :: ['Lymphoma', 'lymphomas'] @entity8782 :: ('MESH:D056735', 'Disease') :: ['autoimmune lymphoproliferative syndrome', 'ALPS', 'Canale-Smith syndrome'] @entity5 :: ('MESH:D009369', 'Disease') :: ['tumor'] @entity1197 :: ('355', 'Gene') :: ['TNFRSF6', 'APT1', 'APO-1', 'CD95'] @entity784 :: ('MESH:D016399', 'Disease') :: ['T-cell lymphomas'] @entity377 :: ('CHEBI:36976', 'Chemical') :: ['nucleotide'] @entity1893 :: ('MESH:D008228', 'Disease') :: ['non-Hodgkin and Hodgkin lymphomas'] @entity405 :: ('925', 'Gene') :: ['CD8']
@entity8782 :: (MESH:D056735,Disease) :: ['autoimmune lymphoproliferative syndrome']
