Immune Deficiency and Autoinflammation, the " Yin" and " Yang" of the Immune System
ZHOU Yu, SONG Hongmei
2024, 3(4): 411-415. DOI: 10.12376/j.issn.2097-0501.2024.04.001
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Progress Research in the Immune-Actinopathies and Pathogenic Genes
MA Shiyun, ZHOU Lina, AN Yunfei, ZHAO Xiaodong
2024, 3(4): 416-422. DOI: 10.12376/j.issn.2097-0501.2024.04.002
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Renal Impairment Associated with Autoinflammatory Diseases
JIAN Shan, WANG Changyan, ZHANG Caihui, SONG Hongmei
2024, 3(4): 423-430. DOI: 10.12376/j.issn.2097-0501.2024.04.003
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Research Progress in Diseases Caused by STAT1 Gain-of-Function Mutations
LI Linpeng, MA Jing, GU Hao, SHU Zhou, MAO Huawei
2024, 3(4): 431-437. DOI: 10.12376/j.issn.2097-0501.2024.04.004
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Reform and Development of Rare Diseases Drug Evaluation and Approval in China
HUANG Guo, YANG Zhimin, TANG Ling, ZHANG Jie, AI Xing, SE RI Geleng, ZHAO Tian
2024, 3(4): 438-445. DOI: 10.12376/j.issn.2097-0501.2024.04.005
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Clinical Analysis of Four Patients with Schimke Immuno-Osseous Dysplasia and a Literature Review
HAN Lingli, DONG Yajuan, SUN Bijun, WANG Wenjie, ZHOU Qinhua, LIU Luyao, HOU Jia, WANG Xiaochuan, SUN Jinqiao
2024, 3(4): 446-452. DOI: 10.12376/j.issn.2097-0501.2024.04.006
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A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review
ZHAO Min, SHU Zhou, HAN Tongxin, FU Yanhua, GAO Tianji, MAO Huawei
2024, 3(4): 453-460. DOI: 10.12376/j.issn.2097-0501.2024.04.007
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NLRP12-Associated Autoinflammatory Disease in Chinese Adult Patients: A Single-Centre Study
MIAO Junke, WU Di, SHEN Min
2024, 3(4): 461-464. DOI: 10.12376/j.issn.2097-0501.2024.04.008
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A Case Report of Multidisciplinary Management of a Patient with Schimke Immuno-Osseous Dysplasia
DING Juan, WANG Wei, XIAO Juan, ZHANG Yan, ZHU Huijuan, ZHANG Wen, GAO Peng, CHEN Limeng, LYU Wei, ZOU Xuan, ZHAO Xiaoyi, SONG Hongmei, MA Mingsheng
2024, 3(4): 465-470. DOI: 10.12376/j.issn.2097-0501.2024.04.009
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Consensus of Chinese Experts on the Diagnosis and Treatment of Type Ⅰ Interferonopathy
Chinese Alliance of Pediatric Rheumatic & Immunologic Diseases, Chinese Pharmacists Association Rare Diseases Medication Working Committee
2024, 3(4): 471-478. DOI: 10.12376/j.issn.2097-0501.2024.04.010
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Chinese Experts′ Consensus on the Management of Hypothalamic Obesity Secondary to Sellar Lesions
Hypothalamic and Pituitary Disease Group of China Alliance for Rare Diseases
2024, 3(4): 479-491. DOI: 10.12376/j.issn.2097-0501.2024.04.011
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A Case Report of Clinical Features Analysis of a Novel IKBKG Variant Leading to Anhidrotic Ectodermal Dysplasia and Immunodeficiency
HUANG Xiaomei, LUO Ying, HE Tingyan, XU Yongbin, XIA Yu, YANG Zhi, ZHU Xiaona, HUANG Yanyan, WENG Ruohang, YANG Jun, WANG Linlin
2024, 3(4): 492-500. DOI: 10.12376/j.issn.2097-0501.2024.04.012
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A Case Report of Clinical Characteristics of Deficiency of Adenosine Deaminase 2 with Pancytopenia
ZHANG Caihui, LIU Liying, ZHANG Zhenjie, WANG Wei, MA Mingsheng, SONG Hongmei
2024, 3(4): 501-506. DOI: 10.12376/j.issn.2097-0501.2024.04.013
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Clinical Characteristics of Three Cases with SAMD9/SAMD9L Gene Mutations
ZHU Ke, SUN Bijun, WANG Wenjie, ZHOU Qinhua, LIU Luyao, HOU Jia, WANG Xiaochuan, SUN Jinqiao
2024, 3(4): 507-511. DOI: 10.12376/j.issn.2097-0501.2024.04.014
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The Hyperactivation of JAK-STAT Signaling Connects Inborn Errors of Immunity and Autoimmune Diseases
JIANG Yi, AN Yunfei, ZHAO Xiaodong
2024, 3(4): 512-521. DOI: 10.12376/j.issn.2097-0501.2024.04.015
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The Current Status and Advance in Treatment of Glycogen Storage Disease Type Ⅰb
JIANG Jingjing, MA Mingsheng
2024, 3(4): 522-526. DOI: 10.12376/j.issn.2097-0501.2024.04.016
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Informatics Consideration on the Hierarchical System of Rare Diseases Clinical Care in China
GONG Mengchun, GUO Yanying, ZHENG Xihong, FAN Junkang, LIU Peng, NIU Ling, YANG Yining, ZOU Xiaoguang
2024, 3(4): 527-534. DOI: 10.12376/j.issn.2097-0501.2024.04.017
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