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

• Glavni autori: Fawzia M. Elgharbawy (Autor), Mohammed Yousuf Karim (Autor), Dina Sameh Soliman (Autor), Amel Siddik Hassan (Autor), Anoop Sudarsanan (Autor), Ashraf Gad (Autor)
• Format: Knjiga
• Izdano: Frontiers Media S.A., 2023-04-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

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...