[1] OKADA S, ASANO T, MORIYA K, et al. HumanSTAT1 gain-of-function heterozygous mutations:chronic mucocutaneous candidiasis and Type I interferonopathy[J]. J Clin Immunol, 2020,40(8):1065-1081. [2] 王高松, 周鼎耀. 二性霉素B治疗慢性皮肤粘膜念珠菌病一例报告[J]. 中华皮肤科杂志, 1981,14(2):99-100. [3] LIU X, HUA H. Oral manifestation of chronic mucocutaneous candidiasis:seven case reports[J]. J Oral Pathol Med, 2007,36(9):528-532. [4] 朱英华. 慢性皮肤粘膜念珠菌病合并伞枝犁头霉感染1例[A]. 中华中医药学会第九次中医皮肤科学术年会论文集[C].大连:出版社, 2012:64. [5] 刘光磊, 李成荣, 杨军, 等. STAT1功能获得性基因突变引起的慢性皮肤黏膜念珠菌病1例并文献复习[J]. 中华实用儿科临床杂志, 2016,31(18):1422-1425. [6] XIANG Q, ZHANG L, LIU X, et al. Autosomal dominant hyper IgE syndrome from a single centre in Chongqing, China (2009-2018)[J]. Scand J Immunol, 2020,91(6):e12885. [7] 陈征, 李薇, 熊琳, 等. 慢性皮肤黏膜念珠菌病[J]. 临床皮肤科杂志, 2004,33(5):288-289. [8] 丁艳, 蒙秉新. 婴儿慢性皮肤黏膜念珠菌病合并念珠菌性肠炎1例[J]. 中国麻风皮肤病杂志, 2008,24(10):820-821. [9] WANG X, ZHANG R, WU W, et al. New and recurrentSTAT1 mutations in seven Chinese patients with chronic mucocutaneous candidiasis[J]. Int J Dermatol, 2017,56(2):e30-e33. [10] 傅强, 李玉湘, 张秀春, 等. 慢性皮肤黏膜念珠菌病1例[J]. 中国皮肤性病学杂志, 2010(9):852-853. [11] 田雯, 蒋利萍, 赵晓东. 中国首例STAT1基因突变致常染色体显性遗传慢性皮肤黏膜念珠菌病报道:中华医学会第十七次全国儿科学术大会, 中国河南郑州, 2012[C]:195-196. [12] 张雅洁, 廉翠红, 刘维达. 婴儿慢性皮肤黏膜念珠菌病一例及实验研究[J]. 中华皮肤科杂志, 2005,24(8):37-39. [13] 王爱平, 张黎黎, 段周英, 等. 慢性皮肤黏膜念珠菌病1例[J]. 中国真菌学杂志, 2011,6(4):227-229. [14] 王爱平, 万喆, 涂平, 等. 慢性皮肤黏膜念珠菌病1例[J]. 中国真菌学杂志, 2011,6(6):227-229. [15] 谷昊, 张蕊, 贺建新, 等. STAT1变异致慢性皮肤黏膜念珠菌病继发免疫性血细胞减少症一例[J]. 中华儿科杂志, 2017,55(7):544-545. [16] 甘川, 许红梅. 5例STAT1功能获得性基因突变儿童慢性皮肤黏膜念珠菌病临床特点及生化免疫分析[J]. 临床儿科杂志, 2019,37(10):739-743. [17] 高红. 卡介苗接种异常反应的原发性免疫缺陷病筛查及慢性皮肤黏膜念珠菌病的临床与分子特征研究[D]. 重庆医科大学儿科学, 2018. [18] DU W, SUN Q, MA D. Generalized, crusted erythematous plaques in a child[J]. Pediatr Dermatol, 2012,29(4):519-520. [19] 彭一平, 吴志华, 黄文明. 慢性皮肤黏膜念珠菌病一列报告[J]. 中华皮肤科杂志, 1984,17(2):138-139. [20] 袁建国, 赵爱杰, 许成蓉. 伊曲康唑治疗慢性皮肤黏膜念珠菌病2例[J]. 医药导报, 2012,31(12):1555-1556. [21] 杨华, 原金凤. 慢性皮肤黏膜念珠菌病一例[J]. 中国麻风皮肤病杂志, 2016,32(12):734-735. [22] 张林楠, 刘玉峰, 苏淑芳, 等. STAT1变异致慢性皮肤黏膜念珠菌病继发血液系统侵害1例[J]. 中国小儿血液与肿瘤杂志, 2019,24(5):273-274. [23] LIU J, LEI P. Histopathologic and scanning electron microscope examination of the nail and hair in chronic mucocutaneous candidiasis.[J]. J Am Acad Dermatol, 2003,49(2 Suppl Case Reports):S154-S156. [24] 江蕾薇, 蒋燕萍, 刘素琴, 等. 慢性皮肤黏膜念珠菌病1例[J]. 中国皮肤性病学杂志, 2010,24(3):269-272. [25] SHAMRIZ O, TAL Y, TALMON A, et al. Chronic mucocutaneous candidiasis in early life:insights into immune mechanisms and novel targeted therapies[J]. Front Immunol, 2020,11:593289.DOI:10.3389/fimmu.2020.593289. [26] PATEL D D, KUCHROO V K. Th17 cell oathway in human immunity:lessons from genetics and therapeutic interventions[J]. Immunity, 2015,43(6):1040-1051. [27] CHEN X, XU Q, LI X, et al. Molecular and phenotypic characterization of nine patients with STAT1 GOF mutations in China[J]. J Clin Immunol, 2020,40(1):82-95. [28] FIERABRACCI A, ARENA A, TOTO F, et al. Autoimmune polyendocrine syndrome type 1(APECED) in the Indian population:case report and review of a series of 45 patients[J]. J Endocrinol Invest, 2021,44(4):661-677. [29] BREAK T J, OIKONOMOU V, DUTZAN N, et al. Aberrant type 1 immunity drives susceptibility to mucosal fungal infections[J]. Science, 2021,371(6526):252. [30] ZHANG W, CHEN X, GAO G, et al. Clinical relevance of gain- and loss-of-function germline mutations in STAT1:a systematic review[J]. Front Immunol, 2021,12:654406.DOI:10.3389/fimmu.2021.654406. [31] TOUBIANA J, OKADA S, HILLER J, et al. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype[J]. BLOOD, 2016,127(25):3154-3164. [32] PERNIOLA R, FIERABRACCI A, FALORNI A. Autoimmune Addison's disease as part of the autoimmune polyglandular syndrome Type 1:historical overview and current evidence[J]. Front Immunol, 2021,12(606860). [33] BOISSON-DUPUIS S, KONG X F, OKADA S, et al. Inborn errors of human STAT1:allelic heterogeneity governs the diversity of immunological and infectious phenotypes[J]. Curr Opin Immunol, 2012,24(4):364-378. [34] CZYRSKI A, RESZTAK M, s' WIDERSKI P, et al. The Overview on the pharmacokinetic and pharmacodynamic interactions of triazoles[J]. Pharmaceutics, 2021,13(11):1961. [35] PDFIATE Y, HERNANDEZ J,HEMDNEZ-MACHIN B,et al. Therapy with voriconazol for a case of chronic mucocutaneous candidiasis[J].ActasDermosifiliogr,2006,97(10):679-680. [36] ZIMMERMAN O, ROSLER B, ZERBE C S, et al. Risks of ruxolitinib in STAT1 gain-of-function-associated severe fungal disease[J]. Open Forum Infect Di, 2017,4(4):ofx202. [37] HIGGINS E, AL SHEHRI T, MCALEER M A, et al. Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1(STAT1) mutation[J]. J Allergy Clin Immun, 2015,135(2):356-551. [38] ROSLER B, WANG X, KEATING S T, et al. HDAC inhibitors modulate innate immune responses to micro-organisms relevant to chronic mucocutaneous candidiasis[J].Clin Exp Immunol, 2018,194(2):205-219. [39] LEEIDING J W, OKADA S, HAGIN D, et al. Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations[J]. J Allergy Clin Immunol, 2018,141(2):704-717. |