Case report: Neonatal autoimmune lymphoproliferative syndrome with a novel pathogenic homozygous FAS variant effectively treated with sirolimus

Case report: Neonatal autoimmune lymphoproliferative syndrome with a novel pathogenic homozygous FAS variant effectively treated with sirolimus

BackgroundAutoimmune lymphoproliferative syndrome (ALPS) is a rare disease characterized by defective FAS signaling, which results in chronic, nonmalignant lymphoproliferation and autoimmunity accompanied by increased numbers of “double-negative” T-cells (DNTs) (T-cell receptor αβ+ CD4−CD8−) and an...

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Bibliographic Details
Main Authors: Fawzia M. Elgharbawy, Mohammed Yousuf Karim, Dina Sameh Soliman, Amel Siddik Hassan, Anoop Sudarsanan, Ashraf Gad
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-04-01
Series:Frontiers in Pediatrics
Subjects:
ALPS (autoimmune lymphoproliferative syndrome)
DNT-cells
sirolimus
FAS
novel variant
newborn
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1150179/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2023.1150179/full

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