Case report: Effectiveness of sirolimus in a de novo FAS mutation leading to autoimmune lymphoproliferative syndrome-FAS and elevated DNT/Treg ratio

• Egile Nagusiak: Hao Gu (Egilea), Zhenping Chen (Egilea), Jie Ma (Egilea), Jingyao Ma (Egilea), Lingling Fu (Egilea), Rui Zhang (Egilea), Tianyou Wang (Egilea), Runhui Wu (Egilea)
• Formatua: Liburua
• Argitaratua: Frontiers Media S.A., 2022-07-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

BackgroundThe autoimmune lymphoproliferative syndrome (ALPS) is a rare disease characterized by defective function of the FAS death receptor, which results in chronic, non-malignant lymphoproliferation and autoimmunity accompanied by elevated numbers of double-negative (DN) T cells (T-cell receptor...