| 1 |
胡亚美，江载芳，申昆玲, 等. 诸福棠实用儿科学 [M]. 8版. 北京: 人民卫生出版社, 2015: 628-633.
|
| 2 |
Heimall J, Logan BR, Cowan MJ, et al. Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study [J]. Blood, 2017, 130(25): 2718-2727.
|
| 3 |
Rozmus J, Junker A, Thibodeau ML, et al. Severe combined immunodeficiency (SCID) in Canadian children: a national surveillance study [J]. J Clin Immunol, 2013, 33(8): 1310-1316.
|
| 4 |
Gennery AR, Slatter MA, Grandin L, et al. Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? [J]. J Allergy Clin Immunol, 2010, 126(3): 602-610.
|
| 5 |
Zafar R, Ver Heul A, Beigelman A, et al. Omenn syndrome presenting with striking erythroderma and extreme lymphocytosis in a newborn [J]. Pediatr Dermatol, 2017, 34(1): e37-e39.
|
| 6 |
Sharapova SO, Guryanova IE, Pashchenko OE, et al. Molecular characteristics, clinical and immunologic manifestations of 11 children with omenn syndrome in east slavs (Russia, Belarus, Ukraine) [J]. J Clin Immunol, 2016, 36(1): 46-55.
|
| 7 |
Marrella V, Maina V, Villa A. Omenn syndrome does not live by V(D)J recombination alone [J]. Curr Opin Allergy Clin Immunol, 2011, 11(6): 525-531.
|
| 8 |
Tirosh I, Yamazaki Y, Frugoni F, et al. Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype [J]. J Allergy Clin Immunol, 2019, 143(2): 726-735.
|
| 9 |
Bai X, Liu J, Zhang Z, et al. Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome [J]. Immunol Res, 2016, 64(2): 497-507.
|
| 10 |
Dalal I, Tasher D, Somech R, et al. Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B- SCID or Omenn syndrome [J]. Clin Immunol, 2011, 140(3): 284-290.
|
| 11 |
高洪杰，刘华卫. 1例Omenn综合征患儿的临床特点及基因突变 [J]. 山东大学学报(医学版), 2019, 57(3): 120-124.
|
| 12 |
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.
|
| 13 |
Chou J, Hanna-Wakim R, Tirosh I, et al. A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome [J]. J Allergy Clin Immunol, 2012, 130(6): 1414-1416.
|
| 14 |
Kalman L, Lindegren ML, Kobrynski L, et al. Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review [J]. Genet Med, 2004, 6(1): 16-26.
|
| 15 |
Zago CA, Jacob CMA, de Albuquerque Diniz EM, et al. Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias [J]. Hum Immunol, 2014, 75(7): 662-666.
|
| 16 |
Grunebaum E, Bates A, Roifman CM. Omenn syndrome is associated with mutations in DNA ligase IV [J]. J Allergy Clin Immunol, 2008, 122(6): 1219-1220.
|
| 17 |
Madkaikar M, Aluri J, Gupta S. Guidelines for screening, early diagnosis and management of severe combined immunodeficiency (SCID) in India [J]. Indian J Pediatr, 2016, 83(5): 455-462.
|
| 18 |
Kwan A, Puck JM. History and current status of newborn screening for severe combined immunodeficiency [J]. Seminars in Perinatology, 2015, 39(3): 194-205.
|
| 19 |
Takashima T, Okamura M, Yeh T, et al. Multicolor flow cytometry for the diagnosis of primary immunodeficiency diseases [J]. J Clin Immunol, 2017, 37(5): 486-495.
|
| 20 |
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.
|
| 21 |
Yu H, Zhang VW, Stray-pedersen A, et al. Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing [J]. J Allergy Clin Immunol, 2016, 138(4): 1142-1151.
|
| 22 |
Collins CJ, Chang IJ, Jung S, et al. Rapid multiplexed proteomic screening for primary immunodeficiency disorders from dried blood spots [J]. Front Immunol, 2018, 9(10): 2756.
|
| 23 |
Liao C, Yu H, Cheng C, et al. A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing [J]. J Microbiol Immunol Infect, 2018, 2(18): 1182-1684.
|
| 24 |
Kuo CY, Kohn DB. Gene Therapy for the treatment of primary immune deficiencies [J]. Curr Allergy Asthma Rep, 2016, 16(5): 39.
|
| 25 |
Booth C, Silva J, Veys P. Stem cell transplantation for the treatment of immunodeficiency in children: current status and hopes for the future [J]. Expert Rev Clin Immunol, 2016, 12(7): 713-723.
|
| 26 |
Diamond CE, Sanchez MJ, Labelle JL. Diagnostic criteria and evaluation of severe combined immunodeficiency in the Neonate [J]. Pediatr Ann, 2015, 44(7): e181-e187.
|
| 27 |
Kim DS, Lee MW, Noh YH, et al. Engraftment efficacy of human hematopoietic stem cells transplanted into NOD/SCID mice using two methods: Intra-bone marrow transplantation of hematopoietic stem cells and intravenous co-transplantation with mesenchymal stem cells [J]. Acta Haematol, 2014, 131(3): 179-182.
|
| 28 |
Schönberger S, Ott H, Gudowius S, et al. Saving the red baby: successful allogeneic cord blood transplantation in Omenn syndrome [J]. Clin Immunol, 2009, 130(3): 259-263.
|
| 29 |
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.
|
| 30 |
王媛，吴俊峰，戴荣欣, 等. 2例Omenn综合症患儿临床、免疫学特征及基因突变分析 [J]. 免疫学杂志, 2013, 29(8): 668-671.
|
| 31 |
Oliveira ML, Akkapeddi P, Ribeiro D, et al. IL-7R-mediated signaling in T-cell acute lymphoblastic leukemia: An update [J]. Advances in Biological Regulation, 2019, 71(9): 88-96.
|
| 32 |
Nagafuchi H, Yoshikawa H, Takeba Y, et al. Recombination activating genes (RAG) induce secondary Ig gene rearrangement in and subsequent apoptosis of human peripheral blood circulating B lymphocytes [J]. Clin Exp Immunol, 2004, 136(1): 76-84.
|
| 33 |
Corfe SA, Paige CJ. The many roles of IL-7 in B cell development; mediator of survival, proliferation and differentiation [J]. Semin Immunol, 2012, 24(3): 198-208.
|
| 34 |
Caglayan Sozmen S, Isik S, Arikan Ayyildiz Z, et al. Cyclosporin treatment improves skin findings in omenn syndrome [J]. Pediatr Dermatol, 2015, 32(2): e54-e57.
|
| 35 |
Lev A, Simon AJ, Amariglio N, et al. Selective clinical and immune response of the oligoclonal autoreactive T cells in Omenn patients after cyclosporin A treatment [J]. Clin Exp Immunol, 2012, 167(2): 338-345.
|