1. Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations
- Author
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Price, Susan, Shaw, Pamela A, Seitz, Amy, Joshi, Gyan, Davis, Joie, Niemela, Julie E, Perkins, Katie, Hornung, Ronald L, Folio, Les, Rosenberg, Philip S, Puck, Jennifer M, Hsu, Amy P, Lo, Bernice, Pittaluga, Stefania, Jaffe, Elaine S, Fleisher, Thomas A, Rao, V Koneti, and Lenardo, Michael J
- Subjects
Cancer ,Lymphoma ,Brain Disorders ,Rare Diseases ,Genetics ,Clinical Research ,Hematology ,Autoimmune Disease ,Aetiology ,2.1 Biological and endogenous factors ,Adolescent ,Adult ,Autoimmune Lymphoproliferative Syndrome ,Cell Proliferation ,Child ,Disease Progression ,Female ,Follow-Up Studies ,Humans ,Lymphocytes ,Male ,Middle Aged ,Mutation ,Penetrance ,Young Adult ,fas Receptor ,Cardiorespiratory Medicine and Haematology ,Clinical Sciences ,Paediatrics and Reproductive Medicine ,Immunology - Abstract
Autoimmune lymphoproliferative syndrome (ALPS) presents in childhood with nonmalignant lymphadenopathy and splenomegaly associated with a characteristic expansion of mature CD4 and CD8 negative or double negative T-cell receptor αβ(+) T lymphocytes. Patients often present with chronic multilineage cytopenias due to autoimmune peripheral destruction and/or splenic sequestration of blood cells and have an increased risk of B-cell lymphoma. Deleterious heterozygous mutations in the FAS gene are the most common cause of this condition, which is termed ALPS-FAS. We report the natural history and pathophysiology of 150 ALPS-FAS patients and 63 healthy mutation-positive relatives evaluated in our institution over the last 2 decades. Our principal findings are that FAS mutations have a clinical penetrance of
- Published
- 2014