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

Claudia L. Gaefke, Jonathan Metts, Donya Imanirad, Daime Nieves, Paola Terranova, Gianluca Dell'Orso, Eleonora Gambineri, Maurizio Miano, Richard F. Lockey, Jolan Eszter Walter, Emma Westermann-Clark

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Article number624116
JournalFrontiers in Pediatrics
Volume9
DOIs
StatePublished - Mar 18 2021
Externally publishedYes

Keywords

  • ALPS (autoimmune lymphoproliferative syndrome)
  • Fas
  • cytopenia
  • lymphoproliferation
  • novel mutation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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