山东大学学报 (医学版) ›› 2019, Vol. 57 ›› Issue (3): 120-124.doi: 10.6040/j.issn.1671-7554.0.2018.1232
• • 上一篇
高洪杰,刘华卫
中图分类号:
| [1] Niehues T, Perez-Becker R, Schuetz C. More than just SCID: the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes(RAG)1 and 2[J]. Clin Immunol, 2010, 135(2): 183-192. [2] 许永彬, 陈玉冰, 陈慧珊, 等. 两例Omenn综合征的基因诊断及发病机制研究[J]. 中华医学遗传学杂志, 2016, 33(1): 38-43. XU Yongbin, CHEN Yubing, CHEN Huishan, et al. Analysis of genetic mutations and pathogenesis for two children with Omenn syndrome[J]. Chinese Journal of Medical Genetics, 2016, 33(1): 38-43. [3] Kwan A, Abraham RS, Currier R, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States[J]. JAMA, 2014, 312(7): 729-738. [4] Schwarz K, Gauss GH, Ludwig L, et al. RAG mutations in human B cell-negative SCID[J]. Science, 1996, 274(5284): 97-99. [5] Moshous D, Callebaut I, de Chasseval R, et al. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency[J]. Cell, 2001, 105(2): 177-186. [6] Felgentreff K, Perez-Becker R, Speckmann C, et al. Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency[J]. Clin Immunol, 2011, 141(1): 73-82. [7] Chan AC, Kadlecek TA, Elder ME, et al. ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency[J]. Science, 1994, 264(5165): 1599-1601. [8] Tchilian EZ, Wallace DL, Wells RS, et al. A deletion in the gene encoding the CD45 antigen in a patient with SCID[J]. J Immunol, 2001, 166(2): 1308-1313. [9] Fischer A, de Saint Basile G, Le Deist F. CD3 deficiencies[J]. Curr Opin Allergy Clin Immunol, 2005, 5(6): 491-495. [10] Feske S, Gwack Y, Prakriya M, et al. A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function[J]. Nature, 2006, 441(7090): 179-185. [11] Stepensky P, Keller B, Shamriz O, et al. Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype[J]. Clin Immunol, 2016, 163: 91-95. doi:10.1016/j.clim.2016.01.001. [12] Puel A, Ziegler SF, Buckley RH, et al. Defective IL7R expression in T(-)B(+)NK(+)severe combined immunodeficiency[J]. Nat Genet, 1998, 20(4): 394-397. [13] Six E, Lagresle-Peyrou C, Susini S, et al. AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages[J]. Cell Death Dis, 2015, 6: e1856. doi:10.1038/cddis.2015.211. [14] Pannicke U, Hönig M, Hess I, et al. Reticular dysgenesis(aleukocytosis)is caused by mutations in the gene encoding mitochondrial adenylate kinase 2[J]. Nat Genet, 2009, 41(1): 101-105. [15] Brauer PM, Pessach IM, Clarke E, et al. Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies[J]. Blood, 2016, 128(6): 783-793. [16] Schwarz K, Gauss GH, Ludwig L, et al. RAG mutations in human B cell-negative SCID[J]. Science, 1996, 274(5284): 97-99. [17] Rivera-Munoz P, Malivert L, Derdouch S, et al. DNA repair and the immune system: from V(D)J recombination to aging lymphocytes[J]. Eur J Immunol, 2007, 37(Suppl 1): S71-S82. [18] de Villartay JP. V(D)J recombination deficiencies[J]. Adv Exp Med Biol, 2009, 650: 46-58. [19] 袁建涛, 雷婷. Omenn综合征临床表型及分子诊断[J]. 临床儿科杂志, 2018, 36(2): 117-120. YUAN Jiantao, LEI Ting. Analysis of clinical phenotype and genetic diagnosis in patients with Omenn syndrome[J]. Journal of Clinical Pediatrics, 2018, 36(2): 117-120. [20] Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution [J]. Annu Rev Immunol, 2004, 22: 625-655. [21] Niehues T, Perez-Becker R, Schuetz C. More than just SCID: the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes(RAG)1 and 2[J]. Clin Immunol, 2010, 135(2): 183-192. [22] Asai E, Wada T, Sakakibara Y, et al. Analysis of mutations and recombination activity in RAG-deficient patients[J]. Clin Immunol, 2011, 138(2): 172-177. [23] Huye LE, Purugganan MM, Jiang MM, et al. Mutational analysis of all conserved basic amino acids in RAG-1 reveals catalytic, step arrest, and joining-deficient mutants in the V(D)J recombinase[J]. Mol Cell Biol, 2002, 22(10): 3460-3473. [24] Corneo B, Moshous D, Güngör T, et al. Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome[J]. Blood, 2001, 97(9): 2772-2776. [25] Kumaki S, Villa A, Asada H, et al. Identification of anti-herpes simplex virus antibody-producing B cells in a patient with an atypical RAG1 immunodeficiency[J]. Blood, 2001, 98(5): 1464-1468. [26] Müller SM, Ege M, Pottharst A, et al. Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: a study of 121 patients[J]. Blood, 2001, 98(6): 1847-1851. [27] Chinn IK, Shearer WT. Severe combined immunodeficiency disorders[J]. Immunol Allergy Clin North Am, 2015, 35(4): 671-694. [28] Richards S, Pitt J, Choo S. Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T-cell receptor excision circle-based method in Victorian dried blood spots[J]. J Paediatr Child Health, 2018, 54(1): 14-19. |
| [1] | 陈倩,仇一帆,陈世龙,王超,董亮,孙丛丛. 成人囊性纤维化1例并文献复习[J]. 山东大学学报 (医学版), 2024, 62(7): 42-47. |
| [2] | 董佳宁,张飘飘,徐芬芬,赵红洋. KMT2D基因变异所致歌舞伎综合征1例[J]. 山东大学学报 (医学版), 2024, 62(2): 90-95. |
| [3] | 马臣帮,高沛,常耀,毛昌琳,陈峰,朱可嘉,管勇,李善军,丁森泰. 非结节性硬化症双肾巨大血管平滑肌脂肪瘤精准诊断及同期两侧手术治疗1例及文献复习[J]. 山东大学学报 (医学版), 2023, 61(2): 65-71. |
| [4] | 王陆敏,周士英,黄启坤,刘艳丽. DNAH5基因新发突变致原发性纤毛运动障碍1例[J]. 山东大学学报 (医学版), 2022, 60(8): 103-108. |
| [5] | 孔昕欣,孙书珍,李倩,陈元,周爱华,王莉,姚秀俊. 抗H因子抗体阳性溶血尿毒综合征7例分析[J]. 山东大学学报 (医学版), 2022, 60(4): 82-86. |
| [6] | 梁子婷,许长娟,曾荣,张锦涛,曾庆师,董亮. 9例儿童异基因造血干细胞移植后闭塞性细支气管炎综合征的临床特征[J]. 山东大学学报 (医学版), 2022, 60(12): 58-62. |
| [7] | 董文灏,赵冰, 李召, 张琛,袁成录. M蛋白相关性杆状体肌病3例及文献回顾[J]. 山东大学学报 (医学版), 2022, 60(10): 74-81. |
| [8] | 陈峰,高沛,朱可嘉,丁森泰. 膀胱淋巴上皮瘤样癌1例[J]. 山东大学学报 (医学版), 2022, 60(1): 118-120. |
| [9] | 罗应舒,李宾,许昌芹,姜军梅,许洪伟. 240例上消化道黏膜下肿瘤内镜治疗的疗效及并发症评估[J]. 山东大学学报 (医学版), 2021, 59(3): 74-80. |
| [10] | 卢佳配,邢丽娜,滑欢,刘璇,牛志云,王颖,温树鹏,王福旭,张学军. 人类白细胞抗原亲缘半相合造血干细胞移植治疗T淋巴母细胞淋巴瘤2例报告及文献复习[J]. 山东大学学报 (医学版), 2020, 58(4): 121-129. |
| [11] | 王彬,布学慧,孔祥亘,张照华,吴谙诏,肖迪,蒋雪梅. 成人37例与儿童10例新型冠状病毒肺炎的临床特点比较[J]. 山东大学学报 (医学版), 2020, 58(10): 112-116. |
| [12] | 王化生, 欧仁杰,王默,白龙振,李英杰,孙超,王永梅. 隐源性机化性肺炎9例并文献复习[J]. 山东大学学报 (医学版), 2020, 58(1): 81-86. |
| [13] | 夏丹丹,王惠宇,许隽颖,刘超英,王润洁. 小肠神经内分泌肿瘤2例并文献回顾[J]. 山东大学学报 (医学版), 2020, 58(1): 87-90. |
| [14] | 孙菲菲,房孝生,姜玉杰,隋潇徽,刘新,王相华,李英,张凌岩,许洪志,王欣. 57例急性淋巴细胞白血病异基因造血干细胞移植后抗宿主病的发生及影响因素分析[J]. 山东大学学报 (医学版), 2019, 57(7): 61-66. |
| [15] | 李凡,邵建华,赵红玉,窦春慧,吕亚辉,李大启. 32例成人继发性噬血细胞综合征临床特点和预后分析[J]. 山东大学学报 (医学版), 2019, 57(12): 62-67. |
|
||
