Service de Médecine Interne, Assistance Publique-Hôpitaux de Paris, Hôpital du Kremlin Bicêtre, Le Kremlin-Bicêtre, France.
Haematologica. 2013 Mar;98(3):389-92. doi: 10.3324/haematol.2012.067488. Epub 2012 Sep 14.
A diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency during adulthood is unusual. We analyzed 17 cases of autoimmune lymphoproliferative syndrome caused by FAS deficiency diagnosed during adulthood in French reference centers for hereditary immunodeficiencies and for immune cytopenias. Twelve of the 17 patients had developed their first symptoms during childhood. The diagnosis of autoimmune lymphoproliferative syndrome had been delayed for a variety of reasons, including unusual clinical manifestations, late referral to a reference center, and the occurrence of somatic FAS mutations. The 5 other patients presented their first symptoms after the age of 16 years. In these patients, three germline heterozygous FAS mutations were predicted to be associated with haploinsufficiency and a somatic event on the second FAS allele was observed in 2 cases. Autoimmune lymphoproliferative syndrome may well be diagnosed in adulthood. The occurrence of additional genetic events may account for the delayed disease onset.
成人生发氏综合征相关自身免疫性淋巴增生性综合征的诊断较为罕见。我们分析了法国遗传性免疫缺陷和免疫性血细胞减少症参考中心诊断的 17 例成人生发氏综合征相关自身免疫性淋巴增生性综合征。17 例患者中有 12 例在儿童期出现了首发症状。由于临床表现不典型、就诊较晚、体细胞 FAS 突变等多种原因，导致诊断延迟。另外 5 例患者在 16 岁以后出现首发症状。在这些患者中，预测 3 例种系杂合 FAS 突变与半合子不足相关，并且在 2 例中观察到第二个 FAS 等位基因的体细胞事件。自身免疫性淋巴增生性综合征很可能在成年期被诊断出来。额外的遗传事件的发生可能导致疾病的延迟发病。
