| 1 |
Stephan JL, Vlekova V, Le Deist F, et al.Severe combined immunodeficiency:a retrospective single-center study of clinical presentation and outcome in 117 patients[J].J Pediatr, 1993, 123(4):564-572.
|
| 2 |
Warrell DA, Cox TM, Firth JD, ed. Oxford textbook of medicine.5th ed[M].Oxford: Oxford University Press, 2010:1-53.
|
| 3 |
Agarwal S, Mayer L.Diagnosis and treatment of gastrointestinal disorders in patients with primary immunodeficiency[J].Clin Gastroenterol Hepatol, 2013, 11(9):1050-1063.
|
| 4 |
Zhang C, Zhang ZY, Wu JF, et al.Clinical characteristics and mutation analysis of X-linked severe combined immunodeficiency in China[J]. World J Pediatr, 2013, 9(1):42-47.
|
| 5 |
Lipstein EA, Vorono S, Browning MF, et al.Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency[J].Pediatrics, 2010, 125(5):1226-1235.
|
| 6 |
Sugamura K, Asao H, Kondo M, et al.The interleukin-2 receptor chain: its role in the multiple cytokine receptor complexes and T cell development in XSCID[J].Annu Rev Immunol, 1996, 14:179-205.
|
| 7 |
Rhim JW, Kim QH, Kim DS, et al. Prevalence of primary immunodeficiency in Korea[J]. J Korean Med Sci, 2012, 27(7):788-793.
|
| 8 |
Speckmann C, Pannicke U, Wiech E, et al. Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency[J].Blood, 2008, 112(10):4090-4097.
|
| 9 |
Noguchi M, Yi H, Rosenblatt HM, et al.Interleukin-2 receptor g chain mutation results in X-linked severe combined immunodeficiency in humans[J].Cell, 1993, 73(1):147-157.
|
| 10 |
Puck JM, Deschenes SM, Porter JC, et al.The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1[J].Hum Mol Genet, 1993, 2(8):1099-1104.
|
| 11 |
Kovanen PE, Leonard WJ.Cytokines and immunodeficiency diseases:critical roles of the gamma(C)-dependent cytokines interleukins 2, 4, 7, 9, 15, and 21, and their signaling pathways[J].Immunol Rev, 2004, 202:67-83.
|
| 12 |
Horino S, Uchiyama T, So T, et al.Gene therapy model of X-linked severe combined immunodeficiency using a modified foamy virus vector[J].PLoS One, 2013, 8(8):71594.
|
| 13 |
Buckley RH, Schiff RI, Schiff SE, et al.Human severe combined immunodefi ciency: genetic, phenotypic, and functional diversity in one hundred eight infants[J].J Pediatr, 1997, 130(3):378-387.
|
| 14 |
DiSanto JP, Rieux-Laucat F, Dautry-Varsat A, et al.Defective human interleukin 2 receptor γ chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells[J].Proc Natl Acad Sci USA, 1994, 91(20):9466-9470.
|
| 15 |
Kawai T, Saito M, Nishikomori R, et al.Mutation analysis of IL-2RG in human X-linked severe combined immunodeficiency[J].J Clin Immunol, 2012, 32(4):690-697.
|
| 16 |
De Ravin SS, Malech HL.Partially corrected X-linked severe combined immunodeficiency: long-term problems and treatment options[J]. Immunol Res, 2009, 43(1-3):223-242.
|
| 17 |
Mukherjee S, Thrasher AJ. Gene therapy for PIDs: progress, pitfalls and prospects[J].Gene, 2013, 525(2):174-181.
|
| 18 |
Yi Y, Noh MJ, Lee KH.Current advances in retroviral gene therapy[J]. Curr Gene Ther, 2011, 11(3):218-228.
|
| 19 |
Buckley RH, Schiff SE, Schiff RI, et al.Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency[J].N Engl J Med, 1999, 340(7):508-516.
|
| 20 |
Myers LA, Patel DD, Puck JM, et al.Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival[J].Blood, 2002, 99(3):872-878.
|
| 21 |
Burroughs L, Woolfrey A.Hematopoietic cell transplantation for treatment of primary immune deficiencies[J].Cell Ther Transplant, 2010, 2(8):1-22.
|
| 22 |
Kumaki S, Sasahara Y, Kamachi Y, et al. B-cell function after unrelated umbilical cord blood transplantation using a minimal-intensity conditioning regimen in patients with X-SCID[J]. Int J Hematol, 2013, 98(3):355-360.
|