代表性教学、科研项目或研究成果（论文、专利专著、教材、成果获奖）： | (1) Guo F; Zhang j; Gao Y; Shu Z; Sun F; Ma J; Zhou X; Li W; Mao H M ; Lei X ; Discovery and Total Synthesis of Anhydrotuberosin as a STING Antagonist for Treating Autoimmune Diseases, Angewandte Chemie International Edition, 2024, 64(1): e202407641 (2)Shu Z; Deng M; Han T; Mao H M; De Novo deep intron ELANE mutation resulting in severe congenital neutropenia, J Clin Immunol, 2024, 44(8): 183 (3) Zhang Y; Shu Z; Li Y; Piao Y; Sun F; Han T; Wang T; Mao H M ; X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in female patients, Clinical and Experimental Immunology, 2024, 215(3): 261-267 (4) Li Y; Piao Y; Han T; Mao H M ; Clinical characteristics and treatment of splenic infarction in children with systemic lupus erythematosus, World Journal of Pediatrics, 2024, 20(5): 525- 531 (5)Deng M; Mao H M ; Inborn errors of immunity in mainland China: the past, present and future, BMJ Paediatrics Open, 2023, 7(1): e002002 (6)Zhu Y, Zhang H, Mao H, Zhong S, Huang Y, Chen S, Yan K, Zhao ZB, Hao X, Zhang Y, Yao H, Huang X, Wang M, Zhang W, Li J, Meng G, Qin X, Ye Z, Shen J, Song Y, Xu Y, Yang Z, Wang L, Zhang Y, Wen L. FAAH served a key membrane-anchoring and stabilizing role for NLRP3 protein independently of the endocannabinoid system. Cell Death and Differentiation. 2023;30(1):168-183 (7)Li Y, Mao H. A wreath-like rash BMJ 2023; 381 :e071321 (8)Li Y, Deng M, Han T, Mo W, Mao H. Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD). Journal of Clinical Immunology. 2023, doi: 10.1007/s10875-023-01441-7 (9)Li Y, Deng M, Li Y, Mao X, Yan S, Tang X, Mao H. Clinical heterogeneity of NLRP12-associated autoinflammatory diseases. Genes & Diseases. 2023;10(3):1090-1100 (10)Wang L, Wen W, Deng M, Li Y, Sun G, Zhao X, Tang X, Mao H. A novel mutation in the NBD domain of NLRC4 causes mild autoinflammation with recurrent urticaria. Frontiers in Immunology. 2021,12:674808 (11)Yang L, Xue X, Chen X, Wu J, Yang X, Xu L, Tang X, Wang M, Mao H, Zhao X. Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency. Genes & Diseases, 2021, 8(5):662-668.9. (12)Deng M, Li Y, Li Y, Mao X, Ke H, Liang W, Lei X, Lau YL, Mao H. A Novel STAT3 Gain-of-function Mutation in Fatal Infancy-onset Interstitial Lung Disease. Frontiers in immunology. 2022.13:866638. (13)Zhang Y, Liu W, Shu Z, Li Y, Sun F, Li ZG, Han TX, Mao HW, Wang TY. Delayed-onset adenosine deaminase deficiency with a novel synonymous mutation and a case series from China. World J Pediatr. 2023,19(7):687-700 (14)Shu Z, Deng M, Han T, Mao H. De Novo deep intron ELANE mutation resulting in severe congenital neutropenia. Journal of Clinical Immunology. 2024;44(8):183 (15)Yang H, Sun F, He Z, Li Y, Lu D, Han T, Mao H. Clinical feature of omicron infection in children with inborn errors of immunity in China. Front. Immunol. 2024;15:1420547 (16)Li Y, Piao YR, Han TX, Mao HW. Clinical characteristics and treatment of splenic infarction in children with systemic lupus erythematosus. World J Pediatr. 2024;20:525-31 (17)Xu X, Li Y, Han T, Zhao Y, Wang X, Fu X, Mao H. The hidden dangers of short-term glucocorticoid use in children: A genomic analysis. Int Immunopharmacol. 2024;135:112323. (18)Zhang Y, Shu Z, Li Y, Piao Y, Sun F, Han T, Wang T, Mao H. X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in female patients. Clin Exp Immunol. 2024;215(3):261-267 (19)Shu Z, Zhang Y, Han T, Li Y, Piao Y, Sun F, Ma J, Mo W, Sun J, Chan KW, Yang W, Lau YL, Mao H. The genetic and clinical characteristics and effects of Canakinumab on cryopyrin-associated periodic syndrome: a large pediatric cohort study from China. Front. Immunol. 2023;14:1267933. (20)Mo W, Sun F, Han T, Mao H. Panniculitis with late onset enthesitis-related arthritis: a case report. Pediatric Rheumatology. 2023; 21:97 (21)Ma J, Mo W, Sun J, Li Y, Han T, Mao H. Progressive osseous heteroplasia in a 5-year-old boy with a novel mutation in exon 2 of GNAS: a case presentation and literature review. BMC Musculoskeletal Disorders. 2023,24(1):247 (22)Sun F, Sun J, Shu Z, He L, Fu L, Zhang R, Duan X, Peng Y, Gong C, Zhang X, Wang X, Han T, Zhang G, Ni X, Mao H. Xanthomatous erosive arthritis: A new disease entity? Pediatr Blood Cancer. 2023;70(3):e30018. (23)Wen W, Wang L, Deng M, Li Y, Tang X, Mao H, Zhao X. A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response. Genes & Diseases, 2022;9(1):176-186, (24)Li Y, Mao X, Tang X, Mao H. Efficacy and safety of anti-TNFα therapy for uveitis associated with juvenile idiopathic arthritis: a systematic review and meta-analysis. Rheumatology and Therapy. 2021, 8(2):711-727. (25)Mao H, Yang W, Latour S, Yang J, Winter S, Zheng J, Ni K, Lv M, Liu C, Huang H, Chan, KW, Lee PPW, Tu W, Fischer A, Lau YL. RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease. J Allergy Clin Immunol. 2018,142(2):595-604.e16 |
