Label free mass spectrometry quantification of differentially expressed proteins in an atypical presentation of Autoimmune Lymphoproliferative Syndrome.

Autoimmune lymphoproliferative syndrome (ALPS) is a rare disease characterized among others things by chronic massive, nonmalignant lymphoadenopathy and splenomegaly. ALPS has been defined as a defect in the lymphocyte apoptotic pathway and is associate with inherited mutations in the FAS, Fas ligand and caspase 10 genes. However, 20-30% of the patients clinically diagnosed do not present any known mutations. We report here the case of a 10 years old girl with a probable diagnostic of ALPS. The patient meet the criteria of the disease nevertheless, the sequencing analysis of the genes involved did not present mutations. In order to go further in the knowledge of the ailment of this patient, we performed the study of the proteome of her peripheral blood mononuclear cells (PBMC) population. We compare the expression of proteins in the sample of the patient with a sample of a same years old healthy girl. The information achieved will provide us valuable elements to make a more integral diagnostic of ALPS and also, others autoimmune diseases.

自身免疫性淋巴细胞增生综合征（Autoimmune lymphoproliferative syndrome, ALPS）是一种罕见疾病，其典型特征之一为慢性弥漫性非恶性淋巴结病与脾大。ALPS被定义为淋巴细胞凋亡通路缺陷性疾病，与FAS基因、Fas配体基因及半胱天冬酶10（caspase 10）基因的遗传性突变相关。然而，20%~30%经临床确诊为ALPS的患者未检出任何已知致病突变。本文报告1例疑似ALPS的10岁女童病例：该患者符合该病的临床诊断标准，但相关致病基因的测序分析未检出突变。为深入探究该患者的患病机制，我们对其外周血单个核细胞（peripheral blood mononuclear cells, PBMC）开展了蛋白质组学研究，并将患者样本的蛋白表达谱与同年龄段健康女童的样本进行对比。本研究获取的相关数据可为ALPS及其他自身免疫性疾病的全面精准诊断提供极具价值的参考依据。