工作单位：

首都医科大学附属北京儿童医院/司机社

受聘院校

新疆医科大学（医学院）

导师层次与类别：

博导

最高学历：

博士研究生

最高学位与授予单位：

香港大学

Email：

[email protected]

研究方向：

免疫出生缺陷、风湿免疫、肿瘤免疫、自身炎症等

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

社会兼职：

亚太APSID遗传与基因组学委员会、主席，国际儿童风湿病临床研究组织（PRINTO）、委员，中华医学会儿科学分会免疫学组、副组长，国家卫健委儿童血液病恶性肿瘤专家委员会、委员，国家卫健委能力建设和继教儿科免疫专委会、委员，中国药师协会罕见病用药工作委员会、副主委，中国医院协会罕见病专委会、常委，北京医师协会儿科医师分会、副会长

北京医学会罕见病分会、副主委

(1)国家优秀青年医师

(2)北京市“登峰”人才

(3)“西融人才”领军人才

(4)第五届全国妇幼健康科学技术奖自然科学奖一等奖

(5)中国出生缺陷干预救助基金会科学技术奖青年学者奖