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.

Summary

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 management. We describe a multi-generational cohort presenting with clinical manifestations of ALPS, and a previously unreported heterozygous missense variant of uncertain significance in FAS (c.758G >T, p.G253V), located in exon 9. Knowledge of the underlying genetic defect permitted prompt targeted therapy to treat acute episodes of cytopenia. This cohort underscores the importance of genetic testing in subjects with clinical features of ALPS and should facilitate the reclassification of this variant as pathogenic.

Item Description

2296-2360
10.3389/fped.2021.624116