Müllauer Leonhard, Emhofer Josef, Wohlfart Sabine, Pichlhöfer Bettina, Stary Susanne, Ebetsberger Georg, Mannhalter Christine, Chott Andreas
Institute of Pathology, Medical University Vienna, Vienna, Austria.
Am J Surg Pathol. 2008 Feb;32(2):329-34. doi: 10.1097/PAS.0b013e3181484f6d.
Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder associated with defects in apoptosis, characterized by childhood onset of lymphadenopathy, splenomegaly, hyperimmunoglobulinemia, and autoimmune disease. ALPS is most frequently associated with a mutation in the cell death receptor Fas (CD95). Very rarely a mutation in caspase 10 is present. An increase of CD4/CD8 double negative T cells in the peripheral blood and lymph nodes is a feature characteristic of ALPS. Additionally, histiocytic proliferations resembling sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) were reported recently in patients with ALPS. In the rare cases with a caspase 10 mutation an accumulation of dendritic cells in lymphoid organs was noted. We describe a different, sarcoidosislike, histiocytic infiltration of lymph nodes that persisted for years in a girl, that was initially supposed to suffer from sarcoidosis, but was eventually diagnosed as ALPS, associated with a missense mutation in the intracellular death domain of Fas. This sarcoidosislike histologic picture extends the spectrum of histiocytic lymph node alterations observed in ALPS and alerts of a potential diagnostic pitfall.
自身免疫性淋巴细胞增生综合征（ALPS）是一种与细胞凋亡缺陷相关的遗传性疾病，其特征为儿童期起病的淋巴结病、脾肿大、高免疫球蛋白血症和自身免疫性疾病。ALPS最常与细胞死亡受体Fas（CD95）的突变相关。极罕见情况下存在半胱天冬酶10的突变。外周血和淋巴结中CD4/CD8双阴性T细胞增多是ALPS的一个特征性表现。此外，最近报道了ALPS患者中出现类似于伴有巨大淋巴结病的窦性组织细胞增生症（Rosai-Dorfman病）的组织细胞增生。在罕见的半胱天冬酶10突变病例中，发现淋巴器官中有树突状细胞积聚。我们描述了一名女孩多年来持续存在的一种不同的、类似结节病的淋巴结组织细胞浸润情况，该女孩最初被认为患有结节病，但最终被诊断为ALPS，与Fas细胞内死亡结构域的错义突变相关。这种类似结节病的组织学表现扩展了在ALPS中观察到的组织细胞性淋巴结改变的范围，并提示存在潜在的诊断陷阱。
