一、自身炎症性疾病的转化医学研究

1、临床研究：前瞻性研究，病例系列，治疗干预等

2、基础研究：基因诊断，基因型-表型关联，基因突变功能及表型研究，疾病模型构建（基因敲入/敲除动物等），功能学研究（细胞生物学，组织病理学等），单细胞测序，新药机制研究

3、多学科、交叉学科：与眼科、耳鼻喉科、皮肤科、消化科、感染科等合作，计算机辅助决策

二、其它风湿免疫罕见病

    其它风湿免疫罕见病的分子诊断，突变基因功能学研究，发病机制研究，治疗干预等。

近5年科研项目：

1.北京市自然科学基金，项目名称：自噬在自身炎症性疾病发病及治疗中的作用，项目编号：7192170，项目负责人。2019.1-2021.12

2.中国医学科学院医学与健康科技创新工程项目，项目名称：疑难自身免疫性疾病发病机制的研究，项目编号：2017-I2M-3-001，子课题负责人（自身炎症性疾病发病机制研究）。2017.1-2020.12

3.国家自然科学基金，项目名称：中国人自身炎症性疾病的临床和基因表型谱及发病机制研究，项目编号：81501405，项目负责人。2016.1-2018.12

4.中国医学科学院北京协和医学院协和青年科研基金，项目名称：中国成人自身炎症性疾病临床和基因表型谱，项目编号：3332015092，项目负责人。2015.6-2016.6

5.中信燎原计划，项目名称：中国人自身炎症性疾病的临床和基因表型谱及发病机制研究，项目负责人。2015.6-2017.6

        2015年开始，逐步建立和完善成人自身炎症性疾病（SAIDs）诊治研究的多学科协作队伍，建立了全国第一个也是目前唯一的成人SAIDs专病门诊，开展成人SAIDs注册登记研究。依托国家风湿病数据中心平台，建立了完善的成人SAIDs前瞻性队列临床资料库、生物样本库及基因二代测序数据库。其中临床数据已整合到十三五精准医学项目的国家罕见病临床队列研究中。

        开展诊断学研究，设计了一款包括成人SAIDs相关致病基因的组套，用于基因的多重扩增，完成高通量测序的成人SAIDs诊断体系平台的建立，开展临床检测并不断改进。

        开展SAIDs发病机制研究，包括基因型表型关联，突变基因功能学研究，基因敲入/敲除动物，细胞生物学研究等。

        开展治疗学研究，包括生物制剂在成人SAIDs的临床应用经验总结，我国I类新药羧胺三唑在成人SAIDs中的抗炎治疗作用机制，总结发表多篇研究结果。

        拓展并推进成人SAIDs相关其它方向领域在临床与科研方面的发展：（1）具有炎症表现的免疫缺陷病，（2）具有炎症表现的各种罕见病，如GATA2基因突变相关噬血细胞综合征、Fabry病、Schnitzler综合征等。

        主要成果如下：

一、以第一作者或通讯作者发表专业领域核心期刊论文100余篇，包括SCI论文30余篇。SCI论文如下：

1.   Wu N*, Wu D, Zhao M, Miao J, Yu W, Wang Y, ShenM#. Clinical benefits of tumour necrosis factor inhibitors in Chinese adultpatients with NLRP3-associated autoinflammatory disease. J Intern Med. 2021 May26. doi: 10.1111/joim.13334. Online ahead of print. (2019 IF: 6.871, JCR Q1区)

2.   Wu N*, Zhao M*, Wu D, Yu K#, Shen M#.COVID-19 pandemic and systemic autoinflammatory diseases management: across-sectional survey. Rheumatol Int. 2021 Apr 12. doi: 10.1007/s00296-021-04846-y.Online ahead of print. (2019 IF: 1.984, JCR Q4区)

3.   Zhang B*, Sun Y*, Xu N, Wang W, Huang X, ChenJ, Shen M#, Wang R#, Zeng X#, Zhang X. Adult-onset deficiency ofadenosine deaminase 2 – a case report and literature review. Clin Rheumatol. 2021Feb 26. doi: 10.1007/s10067-021-05587-w. Online ahead of print. (2019 IF: 2.394,JCR Q2区)

4.   Sun L*, Xu N*, Shen M#, Wang R#, Sun Y,Zhuang J, Zhao Y, Zeng X, Zhang X. GATA2 mutation with recurrent hemophagocyticlymphohistiocytosis and panniculitis: a case report. Rheumatology (Oxford). 2021Jan 7;keaa913. Online ahead of print. (2019 IF: 5.606, JCR Q1区)

5.   Zhao M*, Wu D, Shen M#. Adult onsetStill’s disease with neurological involvement：A single center report.Rheumatology (Oxford). 2020 Dec 28;keaa899. Online ahead of print (2019 IF:5.606, JCR Q1区)

6.   Liu J*, Yu X*, Li C*, Wang Y, Yu W, Shen M#, Zheng W#. Behçet’s syndrome in a Chinesepedigree of NLRP3-associated autoinflammatory disease (NLRP3-AID): acoexistence or novel presentation? Front Med. 2021, 8:695197. doi:10.3389/fmed.2021.695197 (2019 IF: 3.113，JCR Q1区)

7.   Meng T*, Wu D, Luo Y, Wu N, Zhao M, Shen M#,Yu W#. Ocular manifestations in Chinese adult patients with NLRP3-associatedautoinflammatory disease. Sci Rep. 2021, 11(1):11904. doi: 10.1038/s41598-021-91315-y.(2019 IF: 3.998, JCR Q1区)

8.   Wu N*, Zhang B*, Wang T, Shen M#, ZengX. A rare case of autoinflammatory phospholipase Cγ2 (PLCγ2)-associatedantibody deficiency and immune dysregulation complicated with gangrenouspyoderma and literature review. Front Immunol. 2021, 12:667430. doi:10.3389/fimmu.2021.667430 (2019 IF: 5.085, JCR Q2区)

9.   Zhang L*, Sun Y*, Yu W, Wu D, Shen M#,Wang R#. Autoantibodies in NLRP3-associated autoinflammatory disease: a casereport. Clin Exp Rheumatol. 2020, 38 Suppl 127(5):122-123. (2019 IF: 3.319, JCRQ2区)

10.       Luo Y*, WuD#, Shen M#. Recurrent fever of unknown origin: an overlooked symptom ofFabry disease. Mol Genet Genomic Med. 2020, 8(10):e1454. doi:10.1002/mgg3.1454. (2019 IF: 1.995, JCR Q3区)

11.       Yan R*, CaoW, Liu X, Li F, Shen M#. A Chinese case series of Schnitzler syndromeand complete remission in one tocilizumab-treated patient. Clin Rheumatol. 2020, 39(12):3847-3852. doi:10.1007/s10067-020-05204-2. (2019 IF: 2.394, JCR Q2区)

12.       Qin W*, WuD, Luo Y, Zhao M, Wang Y, Shi X, Zhou L, Yu W, Sun Y, Wang R, Zhang W, Liu M, ShenM#. Neurological manifestations of autoinflammatory diseases in Chineseadult patients. Semin Arthritis Rheum, 2020, 50(6):1500-1506. doi:10.1016/j.semarthrit.2019.12.003. (2019 IF: 4.751, JCR Q1区)

13.    Zhao M*, Luo Y*, Wu D, Yang Y, Sun Y, Wang R, ShenM#. Clinical and Genetic Features of Chinese Adult Patients with TumourNecrosis Factor Receptor-Associated Periodic Fever Syndrome. Rheumatology(Oxford), 2020, 59(8):1969-1974. doi: 10.1093/rheumatology/kez569. (2019 IF:5.606, JCR Q1区)

14.  Wu D*, Shen M#,Zhang W, Zeng X. Periodic fever, aphthous stomatitis, pharyngitis and cervicaladenitis in Chinese adult patients. Clin Exp Rheumatol. 2019,37 Suppl 121(6):116-118. (2018 IF: 3.238, JCR Q2区)

15.  Chen J*, Luo Y*, Zhao M,Wu D, Yang Y, Zhang W, Shen M#. Effective Treatment of TNFαInhibitors in Chinese Patients with Blau Syndrome. Arthritis Res Ther. 2019, 21(1):236.doi: 10.1186/s13075-019-2017-5. (2018 IF: 4.148, JCR Q1区)

16.  Hua Y*, Wu D*, Shen M#,Yu K, Zhang W, Zeng X. Phenotypes and genotypes of Chinese adult patients with systemicautoinflammatory diseases. Semin Arthritis Rheum, 2019, 49(3):446-452. doi:10.1016/j.semarthrit.2019.05.002. (2018 IF: 5.072, JCR Q1区)

17.  Yang X*, WuD*, Li J, Shen M#.A Chinese Case Series of Yao Syndrome and Literature Review. Clin Rheumatol, 2018, 37(12):3449-3454.doi: 10.1007/s10067-018-4274-0. (2018 IF: 2.293, JCR Q3区)

18.  WuD, Shen M#, ZengX. Familial Mediterranean fever in Chinese adult patients. Rheumatology(Oxford), 2018, 57(12):2140-2144. doi: 10.1093/rheumatology/key218. (2018 IF:5.149, JCR Q1区)

19. Lu L*,Shen M*, Jiang D, Li Y, Zheng X, Li Y, Li Z, Zhang L, Tang J,Guo Y, Liu S, Zheng Z, Gao G, Kan Q. Blau syndrome with good reponses toTocilizumab: A case report and focused literature review. Semin ArthritisRheum, 2018, 47(5):727-731. doi: 10.1016/j.semarthrit.2017.09.010. ( 2018 IF: 5.072,JCR Q1区)

20. McDonald C*,Shen M*,Johnson EE,Kabi A,Yao Q.Alterations in nucleotide-binding oligomerization domain-2 expression, pathwayactivation, and cytokine production in Yao syndrome. Autoimmunity. 2018, 51(2):53-61. doi:10.1080/08916934.2018.1442442. ( 2018 IF: 2.403, JCR Q3区)

21. Hua Y, ShenM#, Christine McD, Yao Q#. Autophagy Dysfunction inautoinflammatory diseases. J Autoimmun, 2018, 88:11-20. doi:10.1016/j.jaut.2017.10.012. (2018 IF: 7.543, JCR Q1区)

22. Wu D, Shen M#.Two Chinese Pedigrees of Blau Syndrome with Thirteen Affected Members. Clin Rheumatol, 2018, 37(1):265-270. doi:10.1007/s10067-017-3758-7. (2018 IF: 2.293, JCR Q3区)

23.  Wu D, Shen M#.Muckle-Wells syndrome in Chinese patients: a single center case series. Clin Rheumatol, 2017, 36(4):965-969. doi: 10.1007/s10067-016-3523-3. (2017IF: 2.141, JCR Q3区)

24.  Shen M#, Tang L,Shi X,Zeng X,Yao Q.NLRP12 autoinflammatory disease: a Chinese case series andliterature review. Clin Rheumatol, 2017, 36(7):1661-1667. doi:10.1007/s10067-016-3410-y. (2017 IF: 2.141, JCR Q3区)

25.  Wang Q, Shen M#, LengX, ZengX, Zhang F, Qian J. Prevalence, severity, and clinical features of acute andchronic pancreatitis in patients with systemic lupus erythematosus. RheumatolInt, 2016, 36(10):1413-1419. doi: 10.1007/s00296-016-3526-z. (2016 IF: 1.824, JCR Q4区)

26.  Shen M, Moran R, Tomecki KJ, Yao Q#.Granulomatous disease associated with NOD2 sequence variants andfamilial camptodactyly: an intermediate form of NOD2-associateddiseases? Semin Arthritis Rheu 2015,45(3):357-60. doi: 10.1016/j.semarthrit.2015.05.007. (2015 IF: 3.946, JCR Q1区)

27.  Zhang L, Shen M#, Zhang F, Tang F. Survival analysis and risk factorsfor mortality in connective tissue disease-associated pneumomediastinum.Rheumatol Int, 2014, 34(12):1657-1663. doi: 10.1007/s00296-014-3046-7. ( 2014 IF: 1.516, JCR Q4区)

28.  Qing Zhang, Min Shen#, Bo Yang, Keyi Yu. A complicated case ofpachydermoperiostosis with spondyloarthritides: a case report. J Med Case Rep.2013, 7(1):268. doi: 10.1186/1752-1947-7-268.

29.  Min Shen, Xuejun Zeng#, Xingrong Liu, Bao Liu, Baotong Zhou, XueLin, Ran Tian. Pulmonary tuberculosis presenting with aortic pseudoaneurysm,diffuse alveolar hemorrhage, and cardiomyopathy: Is there an intriguingrelationship? Case reports in Clinical Medicine. 2013, 2(9): 495-498.

30.  Mao C, Shen M#. Peripheral neuropathy caused bycryoglobulinaemia with false-positive serological tests of syphilis. Chin MedJ. 2013, 126(10):1996. PMID: 23673128. (2013 IF: 1.016)

31. Shen M, Zeng X, Tian X#, Zhang F, Zeng X, Zhang X, Xu W. Diffuse alveolar hemorrhage insystemic lupus erythematosus: a retrospective study in China. Lupus,2010; 19(11):1326-1330. doi: 10.1177/0961203310373106. (2010 IF: 2.6, JCR Q3区)

32. Shen M, Zhang F, Zhang X#. Pulmonaryhypertension in primary biliary cirrhosis: a prospective study in 178 patients.Scand J Gastroenterol. 2009;44(2):219-223. doi: 10.1080/00365520802400883. (2009IF: 1.98, JCR Q3区)

33. Shen M, Zhang F, Zhang X#. PrimaryBiliary Cirrhosis Complicated With Interstitial Lung Disease: A ProspectiveStudy in 178 Patients. J Clin Gastroenterol. 2009;43(7):676-679. doi:10.1097/MCG.0b013e31818aa11e. (2009 IF: 2.775, JCR Q3区)

34. ShenMin, Zeng Xuejun^#, Tang Fulin. Effects of human cartilage glycoprotein 39 on theonset of rheumatoid arthritis. Chinese Journal of clinical rehabilitation, 2005,9 (11):239-241.

二、2019年北京协和医院医疗科研成果二等奖

医疗科研成果二等奖（攻坚克难），多学科协作建立成人自身炎症性疾病临床研究体系，申报科室排名第一