-
1
-
-
13144249155
-
Severe combined immunodeficiency. A model disease for molecular immunology and therapy
-
Fischer A, Le DF, Hacein-Bey-Abina S, et al. Severe combined immunodeficiency. A model disease for molecular immunology and therapy. Immunol Rev. 2005;203:98-109.
-
(2005)
Immunol Rev
, vol.203
, pp. 98-109
-
-
Fischer, A.1
Le, D.F.2
Hacein-Bey-Abina, S.3
-
2
-
-
79952202248
-
Genetics of SCID
-
Cossu F. Genetics of SCID. Ital J Pediatr. 2010;36:76.
-
(2010)
Ital J Pediatr
, vol.36
, pp. 76
-
-
Cossu, F.1
-
3
-
-
0842327458
-
Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review
-
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. Genet Med. 2004;6(1):16-26.
-
(2004)
Genet Med
, vol.6
, Issue.1
, pp. 16-26
-
-
Kalman, L.1
Lindegren, M.L.2
Kobrynski, L.3
-
4
-
-
0030937723
-
B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation
-
Jones AM, Clark PA, Katz F, et al. B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation. Hum Genet. 1997;99(5):677-80.
-
(1997)
Hum Genet
, vol.99
, Issue.5
, pp. 677-680
-
-
Jones, A.M.1
Clark, P.A.2
Katz, F.3
-
5
-
-
0028087777
-
Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells
-
DiSanto JP, Rieux-Laucat F, Dautry-Varsat A, Fischer A, de Saint Basile G. Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells. Proc Natl Acad Sci U S A. 1994;91(20):9466-70.
-
(1994)
Proc Natl Acad Sci U S A
, vol.91
, Issue.20
, pp. 9466-9470
-
-
Disanto, J.P.1
Rieux-Laucat, F.2
Dautry-Varsat, A.3
Fischer, A.4
De Saint Basile, G.5
-
6
-
-
0028919560
-
Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency
-
Schmalstieg FC, Leonard WJ, Noguchi M, et al. Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. J Clin Invest. 1995;95(3):1169-73.
-
(1995)
J Clin Invest
, vol.95
, Issue.3
, pp. 1169-1173
-
-
Schmalstieg, F.C.1
Leonard, W.J.2
Noguchi, M.3
-
7
-
-
4444332599
-
A novel splice-site mutation in the common gamma chain (gammac) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotype
-
Ginn SL, Smyth C, Wong M, Bennetts B, Rowe PB, Alexander IE. A novel splice-site mutation in the common gamma chain (gammac) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotype. Hum Mutat. 2004;23(5):522-3.
-
(2004)
Hum Mutat
, vol.23
, Issue.5
, pp. 522-523
-
-
Ginn, S.L.1
Smyth, C.2
Wong, M.3
Bennetts, B.4
Rowe, P.B.5
Alexander, I.E.6
-
8
-
-
33847659610
-
X-linked severe combined immunodeficiency (X-SCID) with high blood levels of immunoglobulins and Aspergillus pneumonia successfully treated with micafangin followed by unrelated cord blood stem cell transplantation
-
Kobayashi S, Murayama S, Tatsuzawa O, et al. X-linked severe combined immunodeficiency (X-SCID) with high blood levels of immunoglobulins and Aspergillus pneumonia successfully treated with micafangin followed by unrelated cord blood stem cell transplantation. Eur J Pediatr. 2007;166(3):207-10.
-
(2007)
Eur J Pediatr
, vol.166
, Issue.3
, pp. 207-210
-
-
Kobayashi, S.1
Murayama, S.2
Tatsuzawa, O.3
-
9
-
-
77956395504
-
Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: Entering a new century, do we do better
-
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 Allergy Clin Immunol. 2010;126(3):602-10.e1-11.
-
(2010)
J Allergy Clin Immunol
, vol.126
, Issue.3
, pp. 602-10
-
-
Gennery, A.R.1
Slatter, M.A.2
Grandin, L.3
-
10
-
-
0027525387
-
Severe combined immunodeficiency: A retrospective single-center study of clinical presentation and outcome in 117 patients
-
Stephan JL, Vlekova V, Le DF, et al. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatr. 1993;123(4):564-72.
-
(1993)
J Pediatr
, vol.123
, Issue.4
, pp. 564-572
-
-
Stephan, J.L.1
Vlekova, V.2
Le, D.F.3
-
11
-
-
79959694621
-
Molecular diagnosis of severe combined immunodeficiency-identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children
-
Lee PP, Chan KW, Chen TX, et al. Molecular diagnosis of severe combined immunodeficiency-identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children. J Clin Immunol. 2011;31 (2):281-96.
-
(2011)
J Clin Immunol
, vol.31
, Issue.2
, pp. 281-296
-
-
Lee, P.P.1
Chan, K.W.2
Chen, T.X.3
-
12
-
-
33645319762
-
Hematopoietic stem cell transplantation for 30 patients with primary immunodeficiency diseases: 20 years experience of a single team
-
Tsuji Y, Imai K, Kajiwara M, et al. Hematopoietic stem cell transplantation for 30 patients with primary immunodeficiency diseases: 20 years experience of a single team. Bone Marrow Transplant. 2006;37(5):469-77.
-
(2006)
Bone Marrow Transplant
, vol.37
, Issue.5
, pp. 469-477
-
-
Tsuji, Y.1
Imai, K.2
Kajiwara, M.3
-
13
-
-
79961166081
-
Distribution and clinical features of primary immunodeficiency diseases in Chinese children (2004-2009)
-
Wang LL, Jin YY, Hao YQ, et al. Distribution and clinical features of primary immunodeficiency diseases in Chinese children (2004-2009). J Clin Immunol. 2011;31(3):297-308.
-
(2011)
J Clin Immunol
, vol.31
, Issue.3
, pp. 297-308
-
-
Wang, L.L.1
Jin, Y.Y.2
Hao, Y.Q.3
-
14
-
-
0032806334
-
Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)
-
Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol. 1999;93(3):190-7.
-
(1999)
Clin Immunol
, vol.93
, Issue.3
, pp. 190-197
-
-
Conley, M.E.1
Notarangelo, L.D.2
Etzioni, A.3
-
15
-
-
0030728995
-
Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations
-
Comans-Bitter WM, de Groot R, van den Beemd R, et al. Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations. J Pediatr. 1997;130(3):388-93.
-
(1997)
J Pediatr
, vol.130
, Issue.3
, pp. 388-393
-
-
Comans-Bitter, W.M.1
De Groot, R.2
Van Den Beemd, R.3
-
16
-
-
0035885937
-
Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: A study of 121 patients
-
Muller SM, Ege M, Pottharst A, Schulz AS, Schwarz K, Friedrich W. Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: a study of 121 patients. Blood. 2001;98(6):1847-51.
-
(2001)
Blood
, vol.98
, Issue.6
, pp. 1847-1851
-
-
Muller, S.M.1
Ege, M.2
Pottharst, A.3
Schulz, A.S.4
Schwarz, K.5
Friedrich, W.6
-
17
-
-
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):378-87.
-
(1997)
J Pediatr
, vol.130
, Issue.3
, pp. 378-387
-
-
Buckley, R.H.1
Schiff, R.I.2
Schiff, S.E.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):260-3.
-
(1994)
Arch Dis Child
, vol.70
, Issue.4
, pp. 260-263
-
-
Hague, R.A.1
Rassam, S.2
Morgan, G.3
Cant, A.J.4
-
19
-
-
67349129365
-
Primary immunodeficiency diseases in Egyptian children: A single-center study
-
Reda SM, Afifi HM, Amine MM. Primary immunodeficiency diseases in Egyptian children: a single-center study. J Clin Immunol. 2009;29(3):343-51.
-
(2009)
J Clin Immunol
, vol.29
, Issue.3
, pp. 343-351
-
-
Reda, S.M.1
Afifi, H.M.2
Amine, M.M.3
-
20
-
-
0026728999
-
Biphasic rise of serum immunoglobulins G and A and sex influence on serum immunoglobulin M in normal Chinese children
-
Lau YL, Jones BM, Yeung CY. Biphasic rise of serum immunoglobulins G and A and sex influence on serum immunoglobulin M in normal Chinese children. J Paediatr Child Health. 1992;28 (3):240-3.
-
(1992)
J Paediatr Child Health
, vol.28
, Issue.3
, pp. 240-243
-
-
Lau, Y.L.1
Jones, B.M.2
Yeung, C.Y.3
-
21
-
-
0030899948
-
Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency
-
Puck JM, Pepper AE, Henthorn PS, et al. Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Blood. 1997;89(6):1968-77.
-
(1997)
Blood
, vol.89
, Issue.6
, pp. 1968-1977
-
-
Puck, J.M.1
Pepper, A.E.2
Henthorn, P.S.3
-
22
-
-
77951778042
-
Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency
-
Lipstein EA, Vorono S, Browning MF, et al. Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency. Pediatrics. 2010;125(5):e1226-35.
-
(2010)
Pediatrics
, vol.125
, Issue.5
-
-
Lipstein, E.A.1
Vorono, S.2
Browning, M.F.3
-
23
-
-
37249006442
-
Overview of clinical occurrence of primary immunodeficiency disorders in children
-
Zhao HJ, Chen TX, Hao YQ, Zhou YF, Ying DM. Overview of clinical occurrence of primary immunodeficiency disorders in children. Zhonghua Er Ke Za Zhi. 2006;44(6):403-6.
-
(2006)
Zhonghua Er Ke Za Zhi
, vol.44
, Issue.6
, pp. 403-406
-
-
Zhao, H.J.1
Chen, T.X.2
Hao, Y.Q.3
Zhou, Y.F.4
Ying, D.M.5
-
24
-
-
80053131341
-
Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency
-
Felgentreff K, Perez-Becker R, Speckmann C, et al. Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. Clin Immunol. 2011;141(1):73-82.
-
(2011)
Clin Immunol
, vol.141
, Issue.1
, pp. 73-82
-
-
Felgentreff, K.1
Perez-Becker, R.2
Speckmann, C.3
-
25
-
-
19944433384
-
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: Cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients
-
Giliani S, Mori L, de Saint Basile G, et al. Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. Immunol Rev. 2005;203:110-26.
-
(2005)
Immunol Rev
, vol.203
, pp. 110-126
-
-
Giliani, S.1
Mori, L.2
De Saint Basile, G.3
-
26
-
-
0032231355
-
Adenosine deaminase deficiency: Genotype-phenotype correlations based on expressed activity of 29 mutant alleles
-
Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS. Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. Am J Hum Genet. 1998;63(4):1049-59.
-
(1998)
Am J Hum Genet
, vol.63
, Issue.4
, pp. 1049-1059
-
-
Arredondo-Vega, F.X.1
Santisteban, I.2
Daniels, S.3
Toutain, S.4
Hershfield, M.S.5
-
27
-
-
0025260009
-
Prevalence of lymphocytopenia in severe combined immunodeficiency
-
Gossage DL, Buckley RH. Prevalence of lymphocytopenia in severe combined immunodeficiency. N Engl J Med. 1990;323 (20):1422-3.
-
(1990)
N Engl J Med
, vol.323
, Issue.20
, pp. 1422-1423
-
-
Gossage, D.L.1
Buckley, R.H.2
-
28
-
-
0032435741
-
Mutations in the gene for the common gamma chain (gammac) in X-linked severe combined immunodeficiency
-
Fugmann SD, Muller S, Friedrich W, Bartram CR, Schwarz K. Mutations in the gene for the common gamma chain (gammac) in X-linked severe combined immunodeficiency. Hum Genet. 1998;103(6):730-1.
-
(1998)
Hum Genet
, vol.103
, Issue.6
, pp. 730-731
-
-
Fugmann, S.D.1
Muller, S.2
Friedrich, W.3
Bartram, C.R.4
Schwarz, K.5
-
29
-
-
77249130675
-
Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia
-
Lee PP, Chen TX, Jiang LP, et al. Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia. J Clin Immunol. 2010;30(1):121-31.
-
(2010)
J Clin Immunol
, vol.30
, Issue.1
, pp. 121-131
-
-
Lee, P.P.1
Chen, T.X.2
Jiang, L.P.3
-
30
-
-
10244243692
-
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): Hotspots, effect on transcription, and translation and phenotype/genotype correlation
-
Jin Y, Mazza C, Christie JR, et al. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood. 2004;104(13):4010-9.
-
(2004)
Blood
, vol.104
, Issue.13
, pp. 4010-4019
-
-
Jin, Y.1
Mazza, C.2
Christie, J.R.3
-
31
-
-
0036796668
-
Clinical findings leading to the diagnosis of X-linked agammaglobulinemia
-
Conley ME, Howard V. Clinical findings leading to the diagnosis of X-linked agammaglobulinemia. J Pediatr. 2002;141(4):566-71.
-
(2002)
J Pediatr
, vol.141
, Issue.4
, pp. 566-571
-
-
Conley, M.E.1
Howard, V.2
-
32
-
-
79952698207
-
Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: Longterm outcomes
-
Buckley RH. Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes. Immunol Res. 2011;49(1-3):25-43.
-
(2011)
Immunol Res
, vol.49
, Issue.1-3
, pp. 25-43
-
-
Buckley, R.H.1
-
33
-
-
69849094920
-
Hematopoietic stem cell transplantation for pediatric patients with primary immunodeficiency diseases at All Children's Hospital/University of South Florida
-
Petrovic A, Dorsey M, Miotke J, Shepherd C, Day N. Hematopoietic stem cell transplantation for pediatric patients with primary immunodeficiency diseases at All Children's Hospital/University of South Florida. Immunol Res. 2009;44(1-3):169-78.
-
(2009)
Immunol Res
, vol.44
, Issue.1-3
, pp. 169-178
-
-
Petrovic, A.1
Dorsey, M.2
Miotke, J.3
Shepherd, C.4
Day, N.5
-
35
-
-
0035042875
-
Bone marrow transplantation for T-B-severe combined immunodeficiency disease in Athabascan-speaking native Americans
-
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):703-9.
-
(2001)
Bone Marrow Transplant
, vol.27
, Issue.7
, pp. 703-709
-
-
O'Marcaigh, A.S.1
Desantes, K.2
Hu, D.3
-
36
-
-
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):111-8.
-
(2000)
Arch Immunol Ther Exp (Warsz)
, vol.48
, Issue.2
, pp. 111-118
-
-
Smogorzewska, E.M.1
Brooks, J.2
Annett, G.3
|