Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome

• Main Authors: Claudia L. Gaefke (Author), Jonathan Metts (Author), Donya Imanirad (Author), Daime Nieves (Author), Paola Terranova (Author), Gianluca Dell'Orso (Author), Eleonora Gambineri (Author), Maurizio Miano (Author), Richard F. Lockey (Author), Jolan Eszter Walter (Author), Emma Westermann-Clark (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Autoimmune Lymphoproliferative Syndrome (ALPS), commonly caused by mutations in the FAS gene, is a disease with variable penetrance. Subjects may be asymptomatic, or they may present with lymphadenopathy, splenomegaly, cytopenias, or malignancy. Prompt recognition of ALPS is needed for optimal manag...