Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA.
Blood. 2010 Oct 7;116(14):e35-40. doi: 10.1182/blood-2010-04-280347. Epub 2010 Jun 10.
Lymphadenopathy in children for which no infectious or malignant cause can be ascertained constitutes a challenging diagnostic dilemma. Autoimmune lymphoproliferative syndrome (ALPS) is a human genetic disorder of lymphocyte apoptosis resulting in an accumulation of lymphocytes and childhood onset chronic lymphadenopathy, splenomegaly, multilineage cytopenias, and an increased risk of B-cell lymphoma. In 1999, investigators at the National Institutes of Health (NIH) suggested criteria to establish the diagnosis of ALPS. Since then, with approximately 500 patients with ALPS studied worldwide, significant advances in our understanding of the disease have prompted the need for revisions to the existing diagnostic criteria and classification scheme. The rationale and recommendations outlined here stem from an international workshop held at NIH on September 21 and 22, 2009, attended by investigators from the United States, Europe, and Australia engaged in clinical and basic science research on ALPS and related disorders. It is hoped that harmonizing the diagnosis and classification of ALPS will foster collaborative research and better understanding of the pathogenesis of autoimmune cytopenias and B-cell lymphomas.
对于无法确定病因的儿童淋巴结病，这构成了一个具有挑战性的诊断难题。自身免疫性淋巴增生综合征（ALPS）是一种人类淋巴细胞凋亡的遗传性疾病，导致淋巴细胞堆积，并引起儿童期慢性淋巴结病、脾肿大、多谱系细胞减少症以及 B 细胞淋巴瘤风险增加。1999 年，美国国立卫生研究院（NIH）的研究人员提出了确立 ALPS 诊断的标准。此后，通过对全球约 500 例 ALPS 患者的研究，我们对该疾病的认识取得了重大进展，这促使我们需要对现有的诊断标准和分类方案进行修订。这里概述的原理和建议源自于 2009 年 9 月 21 日至 22 日在美国国立卫生研究院举行的一次国际研讨会，来自美国、欧洲和澳大利亚的从事 ALPS 及相关疾病的临床和基础科学研究的研究人员参加了会议。人们希望协调 ALPS 的诊断和分类，将促进合作研究，并更好地了解自身免疫性血细胞减少症和 B 细胞淋巴瘤的发病机制。
