自身免疫性淋巴细胞增生综合征的研究进展
摘要
自身免疫性淋巴细胞增生综合征(ALPS)是一种因Fas介导的细胞凋亡缺陷,导致淋巴细胞自身稳态和正常免疫耐受障碍的少见疾病,其临床特征表现为淋巴结病、脾大、自身免疫性疾病、恶性肿瘤等。笔者拟对ALPS的发病机制、临床表现、诊断及治疗进展进行综述如下。
出处
《国际输血及血液学杂志》
CAS
2012年第4期320-323,共4页
International Journal of Blood Transfusion and Hematology
基金
基金项目:国家自然科学基金资助项目(No:81070395)
参考文献25
-
1Rieux-Laucat F, Le Deist F, Fischer A. Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathways. Cell Death Differentiat, 2003,10 (1) : 124-133.
-
2Oliveira JB, Bleesing JJ, Dianzani U, et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood, 2010,116 (14) :35-40.
-
3Lenardo M J, Oliveira JB, Zheng L, et al. ALPS-ten lessons from an international workshop on a genetic disease of apoptosis. Immunity,2010,32(3):291-295.
-
4Chan FK, Chun HJ, Zheng L, et al. A domain in TNF receptors that mediates ligand-independent receptor assembly and signaling. Science,2000,288(5475) :2351-2354.
-
5Chan FK, Siegel RM, Zacharias D, et al. Fluorescence resonance energy transfer analysis of cell surface receptor interactions and signaling using spectral variants of the green fluorescent protein. Cytometry, 2001,44(4) : 361-368.
-
6Locksley RM, Killeen N, Lenardo MJ. The TNF and TNF receptor superfamilies: integrating mammalian biology. Cell, 2001,104(4) 1487-501.
-
7余春梅,张宇,邹庆,唐雪梅,于洁,赵晓东.FAS基因突变导致自身免疫性淋巴细胞增生综合征(ALPS)一例[J].免疫学杂志,2010,26(10):883-887. 被引量:4
-
8Magerus-Chatinet A, Stolzenberg MC, Loffredo MS, et al. FAS- L, IL-10, and double-negative CD4-- CD8-- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function. Blood, 2009,113(13) : 3027-3030.
-
9Dowdell KC, Niemela JE, Price S, et al. Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood, 2010,115(25) : 5164-5169.
-
10Wang J, Chun HJ, Wong W, et al. Caspase-10 is an initiator caspase in death receptor signaling. Proc Natl Acad Sci USA, 2001,98(24):13884-13888.
二级参考文献10
-
1Bleesing JJ, Brown MR, Straus SE, et al.Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome[J]. Blood, 2001, 98(8):2466-2473.
-
2Straus SE, Jaffe ES, Puck JM, et al. The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis[J]. Blood, 2001, 98(1):194-200.
-
3Oliveira JB, Bleesing J J, Dianzani U, et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome: report from the 2009 NIH International Workshop[J]. Blood, 2010, Jun 10. [Epub ahead of print].
-
4Rieux-Laucat F, Le Deist F, Fischer A. Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathways [J]. Cell Death and Differentiation, 2003, 10: 124-133.
-
5Rieux-Laucat F, Blach e re S, Danielan S,et al. Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations [J]. Blood, 1999, 94: 2575-2582.
-
6Le Deist F, Fischer A. Autoimmune lymphoproliferative syndrome. Available online at http://www.orpha.net. 2001, Accessed 3-17-09.
-
7Raif S G, MD (Cochair), Luigi DN, et al. Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee [J]. J Allergy Clin Immunol, 2007, 120 (4): 776-794.
-
8Christine E J, Roxanne E F, Amy P H, et al. Autoimmune Lymphoproliferative Syndrome with Defective Fas: Genotype Influences Penetrance [J]. Am J Hum Genet, 1999, 64: 1002-1014.
-
9Nagata S. Human autoimmune lymphoproliferative syndrome, a defect in the apoptosis-inducing Fas receptor: a lesson from the mouse model [J]. J Hum Genet, 1998, 43(1): 2-8.
-
10Bleesing J J, Straus SE, Fleisher TA. Autoimmune lymphoproliferative syndrome, a human disorder of abnormal lymphocyte survival [J]. Pediatr Clin North Am, 2000, 47 (6): 1291-1310.
共引文献3
-
1黄礼彬,张丽丹,柯志勇,徐玲玲,刘茵,王卓,罗学群.自身免疫性淋巴细胞增殖综合征1例报告并文献复习[J].中国实用儿科杂志,2011,26(2):121-124. 被引量:4
-
2阮敏,王书春,周剑峰,邹尧,陈晓娟,张丽,陈玉梅,竺晓凡.双阴性T细胞检测在自身免疫性淋巴细胞增生综合征诊断中的重要性:1例报告并文献复习[J].中国小儿血液与肿瘤杂志,2013,18(5):226-229. 被引量:1
-
3孟君霞,武永强,栾春来,唐广,何孜岩,张晓南,陈杰甫,王升.自身免疫性淋巴细胞增殖综合征一例并文献复习[J].白血病.淋巴瘤,2016,25(8):495-496.
-
1余春梅,张宇,邹庆,唐雪梅,于洁,赵晓东.FAS基因突变导致自身免疫性淋巴细胞增生综合征(ALPS)一例[J].免疫学杂志,2010,26(10):883-887. 被引量:4
-
2程真莉(综述),赵晓东(审校).自身免疫性淋巴细胞增生综合征研究进展[J].国际儿科学杂志,2010,37(4):365-367. 被引量:1
-
3孙佳鹏,卢新天,赵卫红,华瑛.自身免疫性淋巴细胞增生综合征1例并文献复习[J].北京大学学报(医学版),2015,47(6):1022-1027. 被引量:1
-
4罗勇,刘纯义,黄卫东,王世俊,黄少文.自身免疫性淋巴细胞增生综合征1例报告[J].中国实用儿科杂志,2008,23(11):874-874. 被引量:2
-
5李文琪,薛丽香.瘦素及瘦素抵抗在糖尿病发病中的作用[J].中国糖尿病杂志,2007,15(1):58-59. 被引量:15
-
6陈泊.Fas介导的细胞凋亡与血液病[J].广东医学,1998,19(9):645-647.
-
7祝美姣.Fas介导的细胞凋亡与乙型丙型肝炎[J].河北医学,2001,7(3):279-282.
-
8郑慧娟,魏璠,魏军平.自噬与自身免疫性甲状腺疾病[J].国际内分泌代谢杂志,2017,37(1):17-20. 被引量:2
-
9杨熙,林赠华,张亚平.组织细胞肉瘤1例报告并文献复习[J].交通医学,2012,26(1):73-75.
-
10唐建良,李国荣,李婷,谢文婷,朱婉儿.海洛因依赖患者外周血清可溶性Fas及Fas配体的变化[J].中国药物滥用防治杂志,2006,12(4):191-193. 被引量:1