Heelan Bridget T, Tormey Vincent, Amlot Peter, Payne Elspeth, Mehta Atul, Webster A David B
Department of Immunology, Royal Free Hospital, Hampstead, London, UK.
Br J Haematol. 2002 Sep;118(4):1078-81. doi: 10.1046/j.1365-2141.2002.03753.x.
Fas (CD95) plays an important role in apoptosis. Patients with defects in Fas have an autoimmune lymphoproliferative syndrome (ALPS) characterized by lymphadenopathy, autoimmune cytopenias and an increased incidence of lymphomas. There are approximately 70 known cases described worldwide. The autoimmune cytopenias are difficult to treat in this group. We describe a patient with a defect in the death domain of the FAS molecule who had autoimmune thrombocytopenia resistant to conventional therapy but which responded to a combination of rituximab and vincristine.
Fas（CD95）在细胞凋亡中起重要作用。Fas缺陷患者患有自身免疫性淋巴增生综合征（ALPS），其特征为淋巴结病、自身免疫性血细胞减少症以及淋巴瘤发病率增加。全球约有70例已知病例报道。该类患者的自身免疫性血细胞减少症难以治疗。我们描述了一名FAS分子死亡结构域存在缺陷的患者，其患有对传统治疗耐药的自身免疫性血小板减少症，但对利妥昔单抗和长春新碱联合治疗有反应。
