Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome

Article Abstract:

A study on five children suffering from autoimmune lymphoproliferative syndrome (ALPS) showed that in each child one Fas gene was mutated while the other was normal. While the mutation in one patient caused loss of function, in the others defective Fas protein was formed. The functioning of the TCR-induced apoptosis (programmed cell death) which regulates T cell ontogeny and immune responses involving T lymphocytes was also affected. Severe multisystem autoimmune disease and an increase in the number of lymphocytes in the lymph nodes are characteristics of ALPS.

Autoimmune diseases, Mutation (Biology), Mutation

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Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II

Article Abstract:

Studies were conducted to investigate the behavior of specialized antigen-presenting cells during immune response activities. Previous studies have shown that antigen-bearing dendritic cells directly interact with antigen-specific T-cells, resulting in T-cell activation and dendritic cell disappearance. Findings indicate that inherited nonlethal caspase abnormalities cause pleiotropic apoptosis defects underlying autoimmunity in ALPS type II.

T cells, Cysteine proteinases

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Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance

Article Abstract:

Research indicates that intracellular mutations rather than extracellular mutations are linked to autoimmune lymphoproliferative syndrome (ALPS). Studies using ALPS-associated Fas mutants, intracellular portions of Fas receptors exhibited significant dominant inhibition of apoptosis. The ALPS-related morbidity rate was 44% for subjects with intracellular mutations, compared to none for those whose mutations were extracellular.

United States, Immunological deficiency syndromes, Immunologic deficiency syndromes, Genetic disorders, Pathology, Cellular, Cytopathology, Lymphatic diseases

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