-
1
-
-
85047700001
-
Reticular dysgenesis: HLA non-identical bone marrow transplants in a series of 10 patients
-
DOI 10.1038/sj/bmt/1703531
-
Bertrand Y, Muller SM, Casanova JL, Morgan G, Fischer A, Friedrich W. Reticular dysgenesis: HLA non-identical bone marrow transplants in a series of 10 patients. Bone Marrow Transplant. 2002;29(9):759-762 (Pubitemid 34618907)
-
(2002)
Bone Marrow Transplantation
, vol.29
, Issue.9
, pp. 759-762
-
-
Bertrand, Y.1
Muller, S.M.2
Casanova, J.L.3
Morgan, G.4
Fischer, A.5
Friedrich, W.6
-
2
-
-
0035042875
-
- severe combined immunodeficiency disease in Athabascan-speaking native Americans
-
DOI 10.1038/sj.bmt.1702831
-
O'Marcaigh AS, DeSantes K, Hu D, et al. Bone marrow transplantation for T-B-severe combined immunodeficiency disease in Athabascan-speaking native Americans. Bone Marrow Transplant. 2001;27(7): 703-709 (Pubitemid 32409444)
-
(2001)
Bone Marrow Transplantation
, vol.27
, Issue.7
, pp. 703-709
-
-
O'Marcaigh, A.S.1
Desantes, K.2
Hu, D.3
Pabst, H.4
Horn, B.5
Li, L.6
Cowan, M.J.7
-
3
-
-
0027525387
-
Severe combined immunodeficiency: A retrospective single-center study of clinical presentation and outcome in 117 patients
-
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 Pediatr. 1993;123(4):564-572 (Pubitemid 23287526)
-
(1993)
Journal of Pediatrics
, vol.123
, Issue.4
, pp. 564-572
-
-
Stephan, J.L.1
Vlekova, V.2
Le Deist, F.3
Blanche, S.4
Donadieu, J.5
De Saint-Basile, G.6
Durandy, A.7
Griscelli, C.8
Fischer, A.9
-
4
-
-
34147174979
-
Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications
-
DOI 10.1182/blood-2006-07-034678
-
Hönig M, Albert MH, Schulz A, et al. Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. Blood. 2007;109(8):3595-3602 (Pubitemid 46572555)
-
(2007)
Blood
, vol.109
, Issue.8
, pp. 3595-3602
-
-
Honig, M.1
Albert, M.H.2
Schulz, A.3
Sparber-Sauer, M.4
Schutz, C.5
Belohradsky, B.6
Gungor, T.7
Rojewski, M.T.8
Bode, H.9
Pannicke, U.10
Lippold, D.11
Schwarz, K.12
Debatin, K.-M.13
Hershfield, M.S.14
Friedrich, W.15
-
5
-
-
0030862399
-
Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in one hundred eight infants
-
Buckley RH, Schiff RI, Schiff SE, et al. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr. 1997;130(3):378-387
-
(1997)
J Pediatr
, vol.130
, Issue.3
, pp. 378-387
-
-
Buckley, R.H.1
Schiff, R.I.2
Schiff, S.E.3
-
6
-
-
35348869770
-
Long-term follow-up in patients with severe combined immunodeficiency treated by bone marrow transplantation
-
DOI 10.1007/s12026-007-0030-2
-
Friedrich W, Hönig M, Müller SM. Long-term follow-up in patients with severe combined immunodeficiency treated by bone marrow transplantation. Immunol Res. 2007; 38(1-3):165-173 (Pubitemid 47574905)
-
(2007)
Immunologic Research
, vol.38
, Issue.1-3
, pp. 165-173
-
-
Friedrich, W.1
Honig, M.2
Muller, S.M.3
-
7
-
-
0033580206
-
Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency
-
DOI 10.1056/NEJM199902183400703
-
Buckley RH, Schiff SE, Schiff RI, et al. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med. 1999;340(7):508-516 (Pubitemid 29093286)
-
(1999)
New England Journal of Medicine
, vol.340
, Issue.7
, pp. 508-516
-
-
Buckley, R.H.1
Schiff, S.E.2
Schiff, R.I.3
Louise Markert, M.4
Williams, L.W.5
Roberts, J.L.6
Myers, L.A.7
Ward, F.E.8
-
8
-
-
13444301418
-
Development of population-based newborn screening for severe combined immunodeficiency
-
DOI 10.1016/j.jaci.2004.10.012
-
Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2005;115(2):391-398 (Pubitemid 40215109)
-
(2005)
Journal of Allergy and Clinical Immunology
, vol.115
, Issue.2
, pp. 391-398
-
-
Chan, K.1
Puck, J.M.2
-
9
-
-
27744515099
-
Potential costs and benefits of newborn screening for severe combined immunodeficiency
-
DOI 10.1016/j.jpeds.2005.06.001, PII S0022347605004920
-
McGhee SA, Stiehm ER, McCabe ER. Potential costs and benefits of newborn screening for severe combined immunodeficiency. J Pediatr. 2005;147(5):603-608 (Pubitemid 41598331)
-
(2005)
Journal of Pediatrics
, vol.147
, Issue.5
, pp. 603-608
-
-
McGhee, S.A.1
Stiehm, E.R.2
McCabe, E.R.B.3
-
10
-
-
36249029975
-
Committee report: Advancing the current recommended panel of conditions for newborn screening
-
Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children
-
Green NS, Rinaldo P, Brower A, et al; Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Committee report: advancing the current recommended panel of conditions for newborn screening. Genet Med. 2007;9(11): 792-796
-
(2007)
Genet Med
, vol.9
, Issue.11
, pp. 792-796
-
-
Green, N.S.1
Rinaldo, P.2
Brower, A.3
-
11
-
-
33744830065
-
A vision of the future of newborn screening
-
Alexander D, van Dyck PC. A vision of the future of newborn screening. Pediatrics. 2006;117(5 pt 2):S350-S354
-
(2006)
Pediatrics
, vol.117
, Issue.5 PART 2
-
-
Alexander, D.1
Van Dyck, P.C.2
-
14
-
-
38849108737
-
Expanded newborn screening for genetic and metabolic disorders: Modeling costs and outcomes
-
Hubbard HB. Expanded newborn screening for genetic and metabolic disorders: modeling costs and outcomes. Nurs Econ. 2007; 25(6):345-352
-
(2007)
Nurs Econ
, vol.25
, Issue.6
, pp. 345-352
-
-
Hubbard, H.B.1
-
15
-
-
33947326873
-
Newborn screening: Current status
-
Arn PH. Newborn screening: current status. Health Aff (Millwood). 2007;26(2):559-566
-
(2007)
Health Aff (Millwood)
, vol.26
, Issue.2
, pp. 559-566
-
-
Arn, P.H.1
-
16
-
-
17344383506
-
Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: A systematic review
-
Pandor A, Eastham J, Beverley C, Chilcott J, Paisley S. Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review. Health Technol Assess. 2004;8(12):iii, 1-121 (Pubitemid 38418042)
-
(2004)
Health Technology Assessment
, vol.8
, Issue.12
-
-
Pandor, A.1
Eastham, J.2
Beverly, C.3
Chilcott, J.4
Paisley, S.5
-
17
-
-
17144470109
-
Neonatal screening for inborn errors of metabolism: Cost, yield and outcome
-
1-202
-
Pollitt RJ, Green A, McCabe CJ, et al. Neonatal screening for inborn errors of metabolism: cost, yield and outcome. Health Technol Assess. 1997;1(7):i-iv, 1-202
-
(1997)
Health Technol Assess
, vol.1
, Issue.7
-
-
Pollitt, R.J.1
Green, A.2
McCabe, C.J.3
-
18
-
-
0028291342
-
Early diagnosis of severe combined immunodeficiency syndrome
-
Hague RA, Rassam S, Morgan G, Cant AJ. Early diagnosis of severe combined immunodeficiency syndrome. Arch Dis Child. 1994;70(4):260-263 (Pubitemid 24174737)
-
(1994)
Archives of Disease in Childhood
, vol.70
, Issue.4
, pp. 260-263
-
-
Hague, R.A.1
Rassam, S.2
Morgan, G.3
Cant, A.J.4
-
19
-
-
36949040806
-
Severe combined immunodeficiency signalized by eosinophilia and lymphopenia in rotavirus infected infants
-
DOI 10.1055/s-2007-985877
-
Hennewig U, Schulz A, Adams O, Friedrich W, Gobel U, Niehues T. Severe combined immunodeficiency signalized by eosinophilia and lymphopenia in rotavirus infected infants [in German]. Klin Padiatr. 2007;219(6): 343-347 (Pubitemid 350239737)
-
(2007)
Klinische Padiatrie
, vol.219
, Issue.6
, pp. 343-347
-
-
Hennewig, U.1
Schulz, A.2
Adams, O.3
Friedrich, W.4
Gobel, U.5
Niehues, T.6
-
20
-
-
29144489364
-
Two-tiered universal newborn screening strategy for severe combined immunodeficiency
-
DOI 10.1016/j.ymgme.2005.09.005, PII S1096719205002994
-
McGhee SA, Stiehm ER, Cowan M, Krogstad P, McCabe ER. Two-tiered universal newborn screening strategy for severe combined immunodeficiency. Mol Genet Metab. 2005;86(4):427-430 (Pubitemid 41796483)
-
(2005)
Molecular Genetics and Metabolism
, vol.86
, Issue.4
, pp. 427-430
-
-
McGhee, S.A.1
Stiehm, E.R.2
Cowan, M.3
Krogstad, P.4
McCabe, E.R.B.5
-
21
-
-
26044474889
-
Long-term efficacy of enzyme replacement therapy for Adenosine deaminase (ADA)-deficient Severe Combined Immunodeficiency (SCID)
-
DOI 10.1016/j.clim.2005.07.006, PII S1521661605002524
-
Chan B, Wara D, Bastian J, et al. Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID). Clin Immunol. 2005;117(2):133-143 (Pubitemid 41407723)
-
(2005)
Clinical Immunology
, vol.117
, Issue.2
, pp. 133-143
-
-
Chan, B.1
Wara, D.2
Bastian, J.3
Hershfield, M.S.4
Bohnsack, J.5
Azen, C.G.6
Parkman, R.7
Weinberg, K.8
Kohn, D.B.9
-
22
-
-
0037129435
-
Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy
-
Hacein-Bey-Abina S, Le Deist F, Carlier F, et al. Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N Engl J Med. 2002;346(16): 1185-1193
-
(2002)
N Engl J Med
, vol.346
, Issue.16
, pp. 1185-1193
-
-
Hacein-Bey-Abina, S.1
Le Deist, F.2
Carlier, F.3
-
23
-
-
20144387186
-
+ cells with lymphomyeloid differentiation potential and self-renewal capacity in the SCID-X1 gene therapy trial
-
+ cells with lymphomyeloid differentiation potential and self-renewal capacity in the SCID-X1 gene therapy trial. Blood. 2005; 105(7):2699-2706
-
(2005)
Blood
, vol.105
, Issue.7
, pp. 2699-2706
-
-
Schmidt, M.1
Hacein-Bey-Abina, S.2
Wissler, M.3
-
24
-
-
51349090473
-
Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1
-
Hacein-Bey-Abina S, Garrigue A, Wang GP, et al. Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J Clin Invest. 2008;118(9):3132-3142
-
(2008)
J Clin Invest
, vol.118
, Issue.9
, pp. 3132-3142
-
-
Hacein-Bey-Abina, S.1
Garrigue, A.2
Wang, G.P.3
-
25
-
-
0036464666
-
Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival
-
Myers LA, Patel DD, Puck JM, Buckley RH. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood. 2002;99(3):872-878
-
(2002)
Blood
, vol.99
, Issue.3
, pp. 872-878
-
-
Myers, L.A.1
Patel, D.D.2
Puck, J.M.3
Buckley, R.H.4
-
26
-
-
0037442176
-
Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: Report of the European experience 1968-1999
-
Antoine C, Muller S, Cant A, et al. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-1999. Lancet. 2003;361(9357):553-560
-
(2003)
Lancet
, vol.361
, Issue.9357
, pp. 553-560
-
-
Antoine, C.1
Muller, S.2
Cant, A.3
-
27
-
-
0034873564
-
Neonatal bone marrow transplantation for severe combined immunodeficiency
-
Kane L, Gennery AR, Crooks BN, Flood TJ, Abinun M, Cant AJ. Neonatal bone marrow transplantation for severe combined immunodeficiency. Arch Dis Child Fetal Neonatal Ed. 2001;85(2):F110-F113
-
(2001)
Arch Dis Child Fetal Neonatal Ed
, vol.85
, Issue.2
-
-
Kane, L.1
Gennery, A.R.2
Crooks, B.N.3
Flood, T.J.4
Abinun, M.5
Cant, A.J.6
-
28
-
-
0025182977
-
European experience of bone-marrow transplantation for severe combined immunodeficiency
-
Fischer A, Landais P, Friedrich W, et al. European experience of bone-marrow transplantation for severe combined immunodeficiency. Lancet. 1990;336(8719):850-854
-
(1990)
Lancet
, vol.336
, Issue.8719
, pp. 850-854
-
-
Fischer, A.1
Landais, P.2
Friedrich, W.3
-
29
-
-
35148815335
-
Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency
-
Mazzolari E, Forino C, Guerci S, et al. Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency. J Allergy Clin Immunol. 2007;120(4):892-899
-
(2007)
J Allergy Clin Immunol
, vol.120
, Issue.4
, pp. 892-899
-
-
Mazzolari, E.1
Forino, C.2
Guerci, S.3
-
30
-
-
0027939098
-
Relationship between patterns of engraftment in peripheral blood and immune reconstitution after allogeneic bone marrow transplantation for (severe) combined immunodeficiency
-
van Leeuwen JE, van Tol MJ, Joosten AM, et al. Relationship between patterns of engraftment in peripheral blood and immune reconstitution after allogeneic bone marrow transplantation for (severe) combined immunodeficiency. Blood. 1994;84(11):3936-3947
-
(1994)
Blood
, vol.84
, Issue.11
, pp. 3936-3947
-
-
Van Leeuwen, J.E.1
Van Tol, M.J.2
Joosten, A.M.3
-
31
-
-
32044459512
-
Bone marrow transplantation for severe combined immune deficiency
-
Grunebaum E, Mazzolari E, Porta F, et al. Bone marrow transplantation for severe combined immune deficiency. JAMA. 2006; 295(5):508-518
-
(2006)
JAMA
, vol.295
, Issue.5
, pp. 508-518
-
-
Grunebaum, E.1
Mazzolari, E.2
Porta, F.3
-
32
-
-
0039248549
-
T cell depleted haploidentical bone marrow transplantation for the treatment of children with severe combined immunodeficiency
-
Smogorzewska EM, Brooks J, Annett G, et al. T cell depleted haploidentical bone marrow transplantation for the treatment of children with severe combined immunodeficiency. Arch Immunol Ther Exp (Warsz). 2000;48(2):111-118
-
(2000)
Arch Immunol Ther Exp (Warsz)
, vol.48
, Issue.2
, pp. 111-118
-
-
Smogorzewska, E.M.1
Brooks, J.2
Annett, G.3
-
33
-
-
0034062271
-
Matched unrelated bone marrow transplantation for combined immunodeficiency
-
Dalal I, Reid B, Doyle J, et al. Matched unrelated bone marrow transplantation for combined immunodeficiency. Bone Marrow Transplant. 2000;25(6):613-621
-
(2000)
Bone Marrow Transplant
, vol.25
, Issue.6
, pp. 613-621
-
-
Dalal, I.1
Reid, B.2
Doyle, J.3
-
34
-
-
10044263082
-
Does haploidentical transplantation in children with primary immunodeficiencies have the potential to exploit donor NK cell alloreactivity?
-
Dal-Cortivo L, Ouachée-Chardin M, Hirsch I, et al. Does haploidentical transplantation in children with primary immunodeficiencies have the potential to exploit donor NK cell alloreactivity? Bone Marrow Transplant. 2004;34(11):945-947
-
(2004)
Bone Marrow Transplant
, vol.34
, Issue.11
, pp. 945-947
-
-
Dal-Cortivo, L.1
Ouachée-Chardin, M.2
Hirsch, I.3
-
35
-
-
0028372976
-
HLA non-identical T-cell-depleted bone marrow transplantation for primary immunodeficiency diseases
-
Giri N, Vowels M, Ziegler JB, Ford D, Lam-Po-Tang R. HLA non-identical T-cell-depleted bone marrow transplantation for primary immunodeficiency diseases. Aust N Z J Med. 1994;24(1):26-30
-
(1994)
Aust N Z J Med
, vol.24
, Issue.1
, pp. 26-30
-
-
Giri, N.1
Vowels, M.2
Ziegler, J.B.3
Ford, D.4
Lam-Po-Tang, R.5
-
36
-
-
0024453862
-
Development of immunologic functions after bone marrow transplantation in 33 patients with severe combined immunodeficiency
-
Wijnaendts L, Le Deist F, Griscelli C, Fischer A. Development of immunologic functions after bone marrow transplantation in 33 patients with severe combined immunodeficiency. Blood. 1989;74(6):2212-2219
-
(1989)
Blood
, vol.74
, Issue.6
, pp. 2212-2219
-
-
Wijnaendts, L.1
Le Deist, F.2
Griscelli, C.3
Fischer, A.4
-
37
-
-
2542461255
-
Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution
-
Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol. 2004;22:625-655
-
(2004)
Annu Rev Immunol
, vol.22
, pp. 625-655
-
-
Buckley, R.H.1
-
38
-
-
11244284216
-
Improved survival after unrelated donor bone marrow transplantation in children with primary immunodeficiency using a reduced-intensity conditioning regimen
-
Rao K, Amrolia PJ, Jones A, et al. Improved survival after unrelated donor bone marrow transplantation in children with primary immunodeficiency using a reduced-intensity conditioning regimen. Blood. 2005; 105(2):879-885
-
(2005)
Blood
, vol.105
, Issue.2
, pp. 879-885
-
-
Rao, K.1
Amrolia, P.J.2
Jones, A.3
-
39
-
-
0034663152
-
Non-myeloablative stem cell transplantation for congenital immunodeficiencies
-
Amrolia P, Gaspar HB, Hassan A, et al. Non-myeloablative stem cell transplantation for congenital immunodeficiencies. Blood. 2000;96(4):1239-1246
-
(2000)
Blood
, vol.96
, Issue.4
, pp. 1239-1246
-
-
Amrolia, P.1
Gaspar, H.B.2
Hassan, A.3
-
40
-
-
18144379933
-
Stem cell transplantation for congenital immunodeficiencies using reduced-intensity conditioning
-
Veys P, Rao K, Amrolia P. Stem cell transplantation for congenital immunodeficiencies using reduced-intensity conditioning. Bone Marrow Transplant. 2005;35(suppl 1): S45-S47
-
(2005)
Bone Marrow Transplant
, vol.35
, Issue.SUPPL. 1
-
-
Veys, P.1
Rao, K.2
Amrolia, P.3
-
41
-
-
34548493905
-
Introducing new screens: Why are we all doing different things?
-
Pollitt RJ. Introducing new screens: why are we all doing different things? J Inherit Metab Dis. 2007;30(4):423-429
-
(2007)
J Inherit Metab Dis
, vol.30
, Issue.4
, pp. 423-429
-
-
Pollitt, R.J.1
-
44
-
-
36049038494
-
Newborn screening for Pompe disease: Synthesis of the evidence and development of screening recommendations
-
Available at
-
Kemper AR, Hwu WL, Lloyd-Puryear M, Kishnani PS. Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations. Pediatrics. 2007;120(5). Available at: www.pediatrics.org/cgi/ content/full/120/5/e1327
-
(2007)
Pediatrics
, vol.120
, Issue.5
-
-
Kemper, A.R.1
Hwu, W.L.2
Lloyd-Puryear, M.3
Kishnani, P.S.4
-
45
-
-
77951927197
-
-
Available at: Accessed May 6, 2009
-
Center for International Blood & Marrow Transplant Research. Available at: www.cibmtr.org. Accessed May 6, 2009
-
-
-
-
46
-
-
77951897965
-
-
Available at: Accessed May 6, 2009
-
US Immunodeficiency Network. Available at: www.usidnet.org. Accessed May 6, 2009
-
-
-
-
47
-
-
34948870078
-
Population-based newborn screening for severe combined immunodeficiency: Steps toward implementation
-
SCID Newborn Screening Working Group
-
Puck JM; SCID Newborn Screening Working Group. Population-based newborn screening for severe combined immunodeficiency: steps toward implementation. J Allergy Clin Immunol. 2007;120(4):760-768
-
(2007)
J Allergy Clin Immunol
, vol.120
, Issue.4
, pp. 760-768
-
-
Puck, J.M.1
-
48
-
-
34548507228
-
Structures for clinical follow-up: Newborn screening
-
Howell RR, Engelson G. Structures for clinical follow-up: newborn screening. J Inherit Metab Dis. 2007;30(4):600-605
-
(2007)
J Inherit Metab Dis
, vol.30
, Issue.4
, pp. 600-605
-
-
Howell, R.R.1
Engelson, G.2
-
49
-
-
33744801974
-
Financing state newborn screening programs: Sources and uses of funds
-
Johnson K, Lloyd-Puryear MA, Mann MY, Ramos LR, Therrell BL. Financing state newborn screening programs: sources and uses of funds. Pediatrics. 2006;117(5 pt 2): S270-S279
-
(2006)
Pediatrics
, vol.117
, Issue.5 PART 2
-
-
Johnson, K.1
Lloyd-Puryear, M.A.2
Mann, M.Y.3
Ramos, L.R.4
Therrell, B.L.5
-
50
-
-
59949100946
-
Every child is priceless: Debating effective newborn screening policy
-
author reply 7-8
-
Green N. Every child is priceless: debating effective newborn screening policy. Hastings Cent Rep. 2009;39(1):6-7; author reply 7-8
-
(2009)
Hastings Cent Rep
, vol.39
, Issue.1
, pp. 6-7
-
-
Green, N.1
|