Seegers D, Peña A S, Bouma G
VU Medisch Centrum, Laboratorium voor Immunogenetica, huispost J395, Van der Boechorststraat 7, 1081 BT Amsterdam.
Ned Tijdschr Geneeskd. 2004 Feb 21;148(8):371-6.
The autoimmune lymphoproliferative syndrome (ALPS) is a chronic, nonmalignant lymphoproliferative disorder caused by mutations in the genes that are involved in programmed cell death (apoptosis). The impaired apoptosis causes accumulation of lymphocytes, which underlies the clinical manifestations of lymphadenopathy, autoimmune phenomena and a markedly increased risk of malignant lymphomas. During the last few decades, great progress has been achieved in elucidating the aetiology of this syndrome. Several mutations have been found in the genes encoding proteins that are involved in the apoptotic cascade, which starts with the binding of the Fas ligand to the transmembranous Fas protein and which is followed by intracellular processes. ALPS is an autosomal dominant hereditary disease with variable penetrance. Unravelling the genetic abnormalities that cause ALPS has provided key insights into the clinical consequences of defective apoptosis.
自身免疫性淋巴细胞增生综合征（ALPS）是一种慢性非恶性淋巴细胞增生性疾病，由参与程序性细胞死亡（凋亡）的基因突变引起。凋亡受损导致淋巴细胞积聚，这是淋巴结病、自身免疫现象以及恶性淋巴瘤风险显著增加等临床表现的基础。在过去几十年里，在阐明该综合征的病因方面取得了巨大进展。已在编码参与凋亡级联反应的蛋白质的基因中发现了几种突变，凋亡级联反应始于Fas配体与跨膜Fas蛋白的结合，随后是细胞内过程。ALPS是一种常染色体显性遗传病，具有可变的外显率。揭示导致ALPS的基因异常为深入了解凋亡缺陷的临床后果提供了关键线索。
