[1]周丽娜, 丁媛, 李黎, 等. 全血淋巴细胞流式细胞术精细免疫分型方法的建立. 免疫学杂志, 2015, 31(6): 523-527 [2]Ding Y, Zhou L, Xia Y, et al. Reference Values for Peripheral Blood Lymphocyte Subsets of Healthy Children in China. J Allergy Clin Immunol, 2018, 142(3): 970-973. e8 [3]Fang M, Abolhassani H, Lim CK, et al. Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders-Future Directions. J Clin Immunol, 2016, 36(Suppl 1): 68-75 [4]余舜武, 鸿艳, 罗利军. 利用不同实时定量PCR 方法分析相对基因表达差异. 作物学报, 2007, 33(7): 1214-1218 [5]Lee WI, Torgerson TR, Schumacher MJ, et al. Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome. Blood, 2005, 105(5): 1881-1890 [6]Seyama K, Nonoyama S, Gangsaas I, et al. Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. Blood, 1998, 92(7): 2421-2434 [7]Lin Q, Rohrer J, Allen RC, et al. A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. J Clin Invest, 1996, 97(1): 196-201 [8]Leven EA, Maffucci P, Ochs HD, et al. Hyper IgM Syndrome: a Report from the USIDNET Registry. J Clin Immunol, 2016, 36(5): 490-501 [9]安云飞. 高IgM综合征及IPEX临床与分子特征研究. 重庆医科大学, 重庆医科大学, 2011 [10]唐文静. 高IgM综合征临床与分子特征研究. 重庆医科大学, 重庆医科大学, 2013 [11]Quartier P , Bustamante J , Sanal O , et al. Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. Clin Immunol, 2004, 110(1): 22-29 [12]Durandy A , Peron S , Taubenheim N , et al. Activation-induced cytidine deaminase: structure-function relationship as based on the study of mutants. Hum Mutat, 2006, 27(12): 1185-1191 [13]Revy P , Muto T , Levy Y , et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell, 2000, 102(5): 565-575 [14]杜仁骞, 金力, 张锋. 基因组拷贝数变异及其突变机理与人类疾病. 遗传, 2011, 33(8): 857-869 [15]Meyts I , Bosch B , Bolze A , et al. Exome and genome sequencing for inborn errors of immunity. J Allergy Clin Immunol, 2016, 138(4): 957-969 [16]van Kooten C, Banchereau J. CD40-CD40 ligand. J Leukoc Bio, 2000, 67(1): 2-17 [17]Xu Z, Zan H, Pone EJ, et al. Immunoglobulin class-switch DNA recombination: induction, targeting and beyond. Nat Rev Immunol, 2012, 12(7): 517-531 [18]Sebat J, Lakshmi B, Malhotra, et al. Strong Association of De Novo Copy Number Mutations with Autism. Science, 2007, 316(5823): 445-449 |