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

• Asıl Yazarlar: Fawzia M. Elgharbawy (Yazar), Mohammed Yousuf Karim (Yazar), Dina Sameh Soliman (Yazar), Amel Siddik Hassan (Yazar), Anoop Sudarsanan (Yazar), Ashraf Gad (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Frontiers Media S.A., 2023-04-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...