科研成果
原發性免疫缺陷病基因治療[J].
Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review. Frontiers in immunology
Clinical and Molecular Characteristics of Immunodysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome in China
Clinical and Molecular Characterization of X-linked Hyper-IgM Syndrome Patients in China
Natural killer cell activity and frequency of killer cell immunoglobulin-like receptors in children with different forms of juvenile idiopathic arthritis
Distribution, Clinical Features and Molecular Analysis of Primary Immunodeficiency Diseases in Chinese Children A Single-center Study From 2005 to 2011
Effects of Wiskott-Aldrich Syndrome Protein Deficiency on IL-10-Producing Regulatory B Cells in Humans and Mice
Clinical, molecular, and T cell subset analyses in a small cohort of Chinese patients with hyper-IgM syndrome type 1
Abnormalities of follicular helper T-cell number and function in Wiskott-Aldrich syndrome
TRNT1 mutations lead to atypical SIFD and multiple immune defects
Skewed B cell receptor repertoire and reduced antibody avidity in patients with DOCK8 deficiency
genetic and immunological characteristics of 40 Chinese patients with CD40 ligand deficiency
Molecular and Phenotypic Characterization of Nine Patients with STAT1 GOF Mutations in China
Molecular and immunological characterization of DNA ligase IV deficiency
Clinical and molecular characteristics of Chinese patients with X-linked lymphoproliferative syndrome type 1
T-cell receptor repertoire data provides new evidence for hygiene hypothesis of allergic diseases
Effects of Wiskott-Aldrich Syndrome Protein Deficiency on IL-10-Producing Regulatory B Cells in Humans and Mice
Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population. Front. Immunol
Clinical Application of Metagenomic Next-Generation Sequencing for Suspected Infections in Patients With Primary Immunodeficiency Disease
CD8+ T-cell senescence and skewed lymphocyte subsets in young Dyskeratosis Congenita patients with PARN and DKC1 mutations
幼年特發性關節炎發病機制及進展
X連鎖多內分泌腺病腸病伴免疫失調綜合徵一例基因及蛋白表達研究
補體因子Ⅰ缺乏患兒1例分子與臨床特徵研究
X-連鎖多內分泌腺病、腸病伴免疫失調綜合徵1例分子與臨床特徵研究
1例CⅡTA新發突變致MHC-Ⅱ類分子缺陷病的臨床與分子特徵
1例ILFS2患兒臨床與免疫學特徵研究
Th17與自身免疫性疾病
STAT3基因功能獲得性突變致免疫失調性疾病臨床及免疫學特徵研究
白介素7受體α基因缺陷導致嚴重聯合免疫缺陷病一例
X-連鎖淋巴細胞異常增生症一例及其家系基因和蛋白表達研究
穿孔素和顆粒酶B基因多態性與幼年特發性關節炎相關性分析
PIK3CD基因突變致PI3Kδ過度活化綜合徵臨床及免疫學特點分析
兒科醫學生心理韌性狀況研究
BCL11B基因突變致神經系統發育異常一例並文獻複習
10例X連鎖無丙種球蛋白血症的臨床分析和基因診斷
重慶地區漢族人群穿孔素和顆粒酶B基因多態性分析
幼年特發性關節炎白介素6、γ干擾素誘導蛋白10和白介素17的表達及意義
白細胞破碎性血管炎
不典型重症聯合免疫缺陷病的臨床研究進展
MonoMAC綜合徵
NHEJ通路缺陷與原發性免疫缺陷病
DNA修復缺陷導致的原發性免疫缺陷病
普通變異型免疫缺陷病研究進展
先天性角化不良遺傳背景及臨床特點
原發性免疫缺陷病的臨床基因治療
提高兒科風濕免疫性疾病臨床實習質量的探討
川崎病患兒精細免疫分型分析及其臨床意義
補體因子Ⅰ缺乏患兒1例分子與臨床特徵研究
去αβT/B細胞的造血幹細胞移植治療原發性免疫缺陷病
毛-發-鼻-指 (趾) 綜合徵1例並文獻複習
不同教學方法在五年制兒科醫學生教學中的套用分析
STAT1基因突變引起的原發性免疫缺陷病研究進展
PBL教學在兒科本科教學中的套用探討
CD107α表達對NK細胞與細胞毒性T細胞細胞毒功能缺陷性疾病篩查價值探討
移植後淋巴增殖性疾病的靶向藥物治療
原發性免疫缺陷病與過敏
原發性免疫缺陷病自身免疫機制與靶向治療
JAK-STAT信號通路與單基因遺傳病
NBAS基因變異所致疾病研究進展
基因治療慢病毒載體的轉導增強策略
原發性免疫缺陷病治療全面進入精準時代
幾種常見原發性免疫缺陷病的診療原則
基因編輯治療原發性免疫缺陷病
我國兒童原發性免疫缺陷病患者診療、醫療保障情況調查與疾病負擔測算