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Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype
Author(s) -
Worth Austen,
Thrasher Adrian J.,
Bobby Gaspar H.
Publication year - 2006
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2006.05993.x
Subject(s) - autoimmune lymphoproliferative syndrome , fas ligand , immunology , fas receptor , lymphoproliferative disorders , pathogenesis , phenotype , autoimmune disease , disease , autoimmunity , malignancy , lymphocyte , apoptosis , medicine , biology , cancer research , gene , immune system , genetics , lymphoma , pathology , antibody , programmed cell death
Summary Autoimmune lymphoproliferative syndrome (ALPS) is a variable clinical condition manifest by lymphoproliferative disease, autoimmune cytopenias and susceptibility to malignancy. Central to the cellular pathogenesis is defective FAS‐induced apoptosis, which in turn leads to dysregulation of lymphocyte homeostasis. The majority of patients have heterozygous mutations in the FAS ( TNFRSF6 ) gene, but the condition is genetically heterogeneous and mutations in FAS ligand and caspase‐8 and caspase‐10, all of which are involved in Fas mediated signalling, have also been identified. This review provides a detailed insight into the pathophysiology of lymphocyte apoptosis and how this relates to the variable and complex clinical manifestations of ALPS.