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）： | 科研项目： 主持十四五国家重点研发计划课题、国家自然科学基金、北京市自然科学基金-市教委联合科技重点项目等研究课题。 部分论文： 1. 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. 2. 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. 3. Li Y, Mao H. A wreath-like rash. BMJ 2023;381:e071321 4. 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, 43(4):780-793 5. 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. 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. 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. 8. 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 9. 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 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. 12. 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. 13. Luk ADW, Ni K, Wu Y, Lam KT, Chan KW, Lee PP, Tu W, Mao H*, Lau YL. Type I and III interferon Productions are impaired in X-linked agammaglobulinemia patients toward poliovirus but not influenza virus. Frontiers in Immunology. 2018.9:1826 14. 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 |
