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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Detalles Bibliográficos
Autores principales: Gaefke, Claudia L., Metts, Jonathan, Imanirad, Donya, Nieves, Daime, Terranova, Paola, Dell'Orso, Gianluca, Gambineri, Eleonora, Miano, Maurizio, Lockey, Richard F., Walter, Jolan Eszter, Westermann-Clark, Emma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8012668/
https://www.ncbi.nlm.nih.gov/pubmed/33816397
http://dx.doi.org/10.3389/fped.2021.624116

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8012668/
https://www.ncbi.nlm.nih.gov/pubmed/33816397
http://dx.doi.org/10.3389/fped.2021.624116

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