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

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

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...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-03-01
Series:Frontiers in Pediatrics
Subjects:
ALPS (autoimmune lymphoproliferative syndrome)
novel mutation
Fas
cytopenia
lymphoproliferation
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.624116/full

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https://www.frontiersin.org/articles/10.3389/fped.2021.624116/full

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