-
1
-
-
37149022518
-
Human primary immunodeficiency diseases
-
Fischer, A. 2007. Human primary immunodeficiency diseases. Immunity 6: 835-845.
-
(2007)
Immunity
, vol.6
, pp. 835-845
-
-
Fischer, A.1
-
2
-
-
34547732069
-
Primary immunodeficiencies: a field in its infancy
-
Casanova, J.L. & L. Abel. 2007. Primary immunodeficiencies: a field in its infancy. Science 317: 617-619.
-
(2007)
Science
, vol.317
, pp. 617-619
-
-
Casanova, J.L.1
Abel, L.2
-
3
-
-
35548965046
-
Immunological and genetic bases of new primary immunodeficiencies
-
Maródi, L. & L.D. Notarangelo. 2007. Immunological and genetic bases of new primary immunodeficiencies. Nat. Rev. Immunol. 7: 851-861.
-
(2007)
Nat. Rev. Immunol.
, vol.7
, pp. 851-861
-
-
Maródi, L.1
Notarangelo, L.D.2
-
4
-
-
0000419304
-
Agammaglobulinemia
-
Bruton, O.C. 1952. Agammaglobulinemia. Pediatrics 9: 722-728.
-
(1952)
Pediatrics
, vol.9
, pp. 722-728
-
-
Bruton, O.C.1
-
5
-
-
0038632047
-
The discovery of agammaglobulinemia in 1952
-
Hitzig, W.H. 2003. The discovery of agammaglobulinemia in 1952. Eur. J. Pediatr. 162: 289-304.
-
(2003)
Eur. J. Pediatr.
, vol.162
, pp. 289-304
-
-
Hitzig, W.H.1
-
6
-
-
77049235105
-
Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria
-
Kostmann, R. 1956. Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria. Acta. Paediatr. 45: S1-S78.
-
(1956)
Acta. Paediatr.
, vol.45
-
-
Kostmann, R.1
-
7
-
-
0034597508
-
Primary immunodeficiency diseases due to defects in lymphocytes
-
Buckley, R.H. 2000. Primary immunodeficiency diseases due to defects in lymphocytes. N. Engl. J. Med. 343: 1313-1323.
-
(2000)
N. Engl. J. Med
, vol.343
, pp. 1313-1323
-
-
Buckley, R.H.1
-
8
-
-
0345865076
-
Human primary immunodeficiency diseases: a perspective
-
Fischer, A. 2004. Human primary immunodeficiency diseases: a perspective. Nat. Immunol. 5: 23-30.
-
(2004)
Nat. Immunol.
, vol.5
, pp. 23-30
-
-
Fischer, A.1
-
9
-
-
23244431851
-
From idiopathic infectious diseases to novel primary immunodeficiencies
-
Casanova, J.L., C. Fieschi, J. Bustamante, et al. 2005. From idiopathic infectious diseases to novel primary immunodeficiencies. J. Allergy Clin. Immunol. 116: 426-430.
-
(2005)
J. Allergy Clin. Immunol.
, vol.116
, pp. 426-430
-
-
Casanova, J.L.1
Fieschi, C.2
Bustamante, J.3
-
11
-
-
39249084392
-
Novel primary immunodeficiencies revealed by the investigation of pediatric infectious diseases
-
Bustamante, J., S. Boisson-Dupuis, E. Jouanguy, et al. 2008. Novel primary immunodeficiencies revealed by the investigation of pediatric infectious diseases. Curr. Opin. Immunol. 20: 39-48.
-
(2008)
Curr. Opin. Immunol.
, vol.20
, pp. 39-48
-
-
Bustamante, J.1
Boisson-Dupuis, S.2
Jouanguy, E.3
-
12
-
-
78650915637
-
Immunodeficiency and genetic defects of pattern-recognition receptors
-
Netea, M.G. & J.W. van derMeer. 2011. Immunodeficiency and genetic defects of pattern-recognition receptors. N. Engl. J. Med. 364: 60-70.
-
(2011)
N. Engl. J. Med.
, vol.364
, pp. 60-70
-
-
Netea, M.G.1
van derMeer, J.W.2
-
15
-
-
77957551803
-
More than just infections: an update on primary immunodeficiencies
-
Savides, C. & M. Shaker. 2010. More than just infections: an update on primary immunodeficiencies. Curr. Opin. Pediatr. 22: 647-654.
-
(2010)
Curr. Opin. Pediatr.
, vol.22
, pp. 647-654
-
-
Savides, C.1
Shaker, M.2
-
16
-
-
77950862324
-
Primary immunodeficiencies of protective immunity to primary infections
-
Bousfiha, A., C. Picard, S. Boisson-Dupuis, et al. 2010. Primary immunodeficiencies of protective immunity to primary infections. Clin. Immunol. 135: 204-209.
-
(2010)
Clin. Immunol
, vol.135
, pp. 204-209
-
-
Bousfiha, A.1
Picard, C.2
Boisson-Dupuis, S.3
-
17
-
-
58149352589
-
News feature
-
Spinney, L. 2009. News feature. Nat. Med. 15: 10-13.
-
(2009)
Nat. Med.
, vol.15
, pp. 10-13
-
-
Spinney, L.1
-
18
-
-
33746710391
-
Human host genetic factors in nontuberculous mycobacterial infection: lessons from single gene disorders affecting innate and adaptive immunity and lessons from molecular defects in interferon-gamma-dependent signaling
-
Haverkamp, M.H., J.T. van Dissel & S.M. Holland. 2006. Human host genetic factors in nontuberculous mycobacterial infection: lessons from single gene disorders affecting innate and adaptive immunity and lessons from molecular defects in interferon-gamma-dependent signaling. Microbes Infect. 8: 1157-1166.
-
(2006)
Microbes Infect.
, vol.8
, pp. 1157-1166
-
-
Haverkamp, M.H.1
van Dissel, J.T.2
Holland, S.M.3
-
19
-
-
0030297003
-
CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome
-
Notarangelo, L.D. & M.C. Peitsch. 1996. CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome. Immunol. Today 17: 511-516.
-
(1996)
Immunol. Today
, vol.17
, pp. 511-516
-
-
Notarangelo, L.D.1
Peitsch, M.C.2
-
20
-
-
0032190068
-
Mutation of the CD40 ligand and its effect on CD40 ligand expression in patients with X-linked hyper-IgM syndrome
-
Seyama, K., S. Nonoyama, I. Gangsaas, et al. 1998. Mutation of the CD40 ligand and its effect on CD40 ligand expression in patients with X-linked hyper-IgM syndrome. Blood 92: 2421-2434.
-
(1998)
Blood
, vol.92
, pp. 2421-2434
-
-
Seyama, K.1
Nonoyama, S.2
Gangsaas, I.3
-
22
-
-
14944385521
-
Molecular analysis of a large cohort of patients with the hyper-immunoglobulin M (IgM) syndrome
-
Lee, W.I., T.R. Torgerson, M.J. Schumacher, et al. 2005. Molecular analysis of a large cohort of patients with the hyper-immunoglobulin M (IgM) syndrome. Blood 105: 1881-1890.
-
(2005)
Blood
, vol.105
, pp. 1881-1890
-
-
Lee, W.I.1
Torgerson, T.R.2
Schumacher, M.J.3
-
23
-
-
11144258626
-
Genetically acquired class-switch recombination defects: the multi-faced hyper-IgM syndrome
-
Erdo{double acute}s, M., A. Durandy & L. Maródi. 2005. Genetically acquired class-switch recombination defects: the multi-faced hyper-IgM syndrome. Immunol. Lett. 97: 1-6.
-
(2005)
Immunol. Lett.
, vol.97
, pp. 1-6
-
-
Erdos, M.1
Durandy, A.2
Maródi, L.3
-
24
-
-
33750587744
-
Primary immune deficiencies: windows into the immune system
-
Fleischer, T.A. 2006. Primary immune deficiencies: windows into the immune system. Pediatr. Rev. 27: 363-372.
-
(2006)
Pediatr. Rev.
, vol.27
, pp. 363-372
-
-
Fleischer, T.A.1
-
25
-
-
58149247985
-
Rheumatologic and autoimmune manfestations of primary immunodeficiency diseases
-
Goyal, R., A.C. Bulua, N.P. Nikolay, et al. 2009. Rheumatologic and autoimmune manfestations of primary immunodeficiency diseases. Curr. Opin. Rheumatol. 21: 78-84.
-
(2009)
Curr. Opin. Rheumatol.
, vol.21
, pp. 78-84
-
-
Goyal, R.1
Bulua, A.C.2
Nikolay, N.P.3
-
26
-
-
60949092589
-
Autoimmune manifestations in primary immune deificiencies
-
Bussone, G. & L. Mouthon. 2009. Autoimmune manifestations in primary immune deificiencies. Autoimmun. Rev. 8: 332-336.
-
(2009)
Autoimmun. Rev.
, vol.8
, pp. 332-336
-
-
Bussone, G.1
Mouthon, L.2
-
27
-
-
33646066801
-
Molecular basis of common variable immunodeficiency
-
Castigli, E. & R.S. Geha. 2006. Molecular basis of common variable immunodeficiency. J. Allergy Clin. Immunol. 117: 740-746.
-
(2006)
J. Allergy Clin. Immunol.
, vol.117
, pp. 740-746
-
-
Castigli, E.1
Geha, R.S.2
-
28
-
-
79954599747
-
Gene expression profiling of peripheral blood mononuclear cells from children with active hemophagocytic lymphohistiocytosis.
-
Sumegi, J., M.G. Barnes, S.V. Nestheide, et al. 2011. Gene expression profiling of peripheral blood mononuclear cells from children with active hemophagocytic lymphohistiocytosis. Blood 117: e151-e160.
-
(2011)
Blood
, vol.117
-
-
Sumegi, J.1
Barnes, M.G.2
Nestheide, S.V.3
-
29
-
-
0031466862
-
An interleukin-2 receptor gamma chain mutation with normal thymus morphology
-
Sharfe, N., M. Shahar & C.M. Roifman. 1997. An interleukin-2 receptor gamma chain mutation with normal thymus morphology. J. Clin. Invest. 100: 3036-3043.
-
(1997)
J. Clin. Invest.
, vol.100
, pp. 3036-3043
-
-
Sharfe, N.1
Shahar, M.2
Roifman, C.M.3
-
30
-
-
70350545720
-
A homozygous CARD9 mutation in a family with susceptibility to fungal infections
-
Glocker, E.O., A. Hennigs, M. Nabavi, et al. 2009. A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N. Engl. J. Med. 361: 1727-1735.
-
(2009)
N. Engl. J. Med.
, vol.361
, pp. 1727-1735
-
-
Glocker, E.O.1
Hennigs, A.2
Nabavi, M.3
-
31
-
-
78149356369
-
X-linked lymphoproliferative syndromes: brothers or distant cousins?
-
Filipovich, A.H., K. Zhang, A.L. Snow & R.A. Marsh. 2010. X-linked lymphoproliferative syndromes: brothers or distant cousins? Blood 116: 3398-3408.
-
(2010)
Blood
, vol.116
, pp. 3398-3408
-
-
Filipovich, A.H.1
Zhang, K.2
Snow, A.L.3
Marsh, R.A.4
-
32
-
-
78649902529
-
Point mutants of forkhead box P3 that cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked have diverse abilities to reprogram T cells into regulatory T cells
-
McMurchy, A.N., J. Gillies, S.E. Allan, et al. 2010. Point mutants of forkhead box P3 that cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked have diverse abilities to reprogram T cells into regulatory T cells. J. Allergy Clin. Immunol. 126: 1242-1251.
-
(2010)
J. Allergy Clin. Immunol.
, vol.126
, pp. 1242-1251
-
-
McMurchy, A.N.1
Gillies, J.2
Allan, S.E.3
-
33
-
-
64249161198
-
Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I
-
Husebye, E.S., J. Perheentupa, R. Rautemaa, et al. 2009. Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I. J. Intern. Med. 265: 514-529.
-
(2009)
J. Intern. Med.
, vol.265
, pp. 514-529
-
-
Husebye, E.S.1
Perheentupa, J.2
Rautemaa, R.3
-
34
-
-
77950253546
-
Novel sequence variation of AIRE and detection of interferon-ω antibodies in early infancy
-
Tóth, B., A. Wolff, Z. Halász, et al. 2010. Novel sequence variation of AIRE and detection of interferon-ω antibodies in early infancy. Clin. Endocrinol. 72: 641-647.
-
(2010)
Clin. Endocrinol.
, vol.72
, pp. 641-647
-
-
Tóth, B.1
Wolff, A.2
Halász, Z.3
-
35
-
-
70349790195
-
Primary immunodeficiencies: increasing market share
-
Notarangelo, L.D. & J.L. Casanova. 2009. Primary immunodeficiencies: increasing market share. Curr. Opin. Immunol. 21: 461-465.
-
(2009)
Curr. Opin. Immunol.
, vol.21
, pp. 461-465
-
-
Notarangelo, L.D.1
Casanova, J.L.2
-
36
-
-
54049118934
-
Advances in understanding of pathogenesis of aHUS and HELLP
-
Fang, C.J., A. Richards, M.K. Liszewski, et al. 2008. Advances in understanding of pathogenesis of aHUS and HELLP. Br. J. Med. 143: 336-348.
-
(2008)
Br. J. Med.
, vol.143
, pp. 336-348
-
-
Fang, C.J.1
Richards, A.2
Liszewski, M.K.3
-
37
-
-
58149313016
-
Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA
-
Suzuki, T., T. Sakagami, B.K. Rubin, et al. 2008. Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. J. Exp. Med. 205: 2703-2710.
-
(2008)
J. Exp. Med.
, vol.205
, pp. 2703-2710
-
-
Suzuki, T.1
Sakagami, T.2
Rubin, B.K.3
-
38
-
-
58149316253
-
Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRα gene in the X chromosome pseudoautosomal region
-
Martinez-Moczygemba, M., M.L. Doan, O. Elidemir, et al. 2008. Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRα gene in the X chromosome pseudoautosomal region. J. Exp. Med. 205: 2711-2716.
-
(2008)
J. Exp. Med.
, vol.205
, pp. 2711-2716
-
-
Martinez-Moczygemba, M.1
Doan, M.L.2
Elidemir, O.3
-
39
-
-
47749126514
-
Factor H family proteins and human diseases
-
Józsi, M. & P. Zipfel. 2008. Factor H family proteins and human diseases. Cell 29: 380-387.
-
(2008)
Cell
, vol.29
, pp. 380-387
-
-
Józsi, M.1
Zipfel, P.2
-
40
-
-
69449105914
-
Disordered macrophage cytokine secretion underlies impaired acute inflammation and bacterial clearance in Crohn's disease
-
Smith, A.M., F.Z. Rahman, B. Hayee, et al. 2009. Disordered macrophage cytokine secretion underlies impaired acute inflammation and bacterial clearance in Crohn's disease. J. Exp. Med. 206: 1883-1897.
-
(2009)
J. Exp. Med.
, vol.206
, pp. 1883-1897
-
-
Smith, A.M.1
Rahman, F.Z.2
Hayee, B.3
-
42
-
-
69549121823
-
Revisiting Crohn's disease as a primary immunodeficiency of macrophages
-
Casanova, J.L. & L. Abel. 2009. Revisiting Crohn's disease as a primary immunodeficiency of macrophages. J. Exp. Med. 206: 1839-1843.
-
(2009)
J. Exp. Med.
, vol.206
, pp. 1839-1843
-
-
Casanova, J.L.1
Abel, L.2
-
43
-
-
0033588819
-
Idiopathic pulmonary alveolar proteinosis as an autoimmune disease with neutralizing antibody against granulocyte/macrophage colony-stimulating factor
-
Kitamura, T., N. Tanaka, J. Watanabe, et al. 1999. Idiopathic pulmonary alveolar proteinosis as an autoimmune disease with neutralizing antibody against granulocyte/macrophage colony-stimulating factor. J. Exp. Med. 190: 875-880.
-
(1999)
J. Exp. Med.
, vol.190
, pp. 875-880
-
-
Kitamura, T.1
Tanaka, N.2
Watanabe, J.3
-
44
-
-
58149296183
-
Out of breath: GM-CSFRalpha mutations disrupt surfactant homeostasis
-
Notarangelo, L.D. & I. Pessach. 2008. Out of breath: GM-CSFRalpha mutations disrupt surfactant homeostasis. J. Exp. Med. 205: 2693-2697.
-
(2008)
J. Exp. Med.
, vol.205
, pp. 2693-2697
-
-
Notarangelo, L.D.1
Pessach, I.2
-
45
-
-
70449374931
-
Novel primary immunodeficiencies relevant to internal medicine: novel phenotypes
-
Maródi, L. & J.L. Casanova. 2009. Novel primary immunodeficiencies relevant to internal medicine: novel phenotypes. J. Intern. Med. 266: 502-506.
-
(2009)
J. Intern. Med.
, vol.266
, pp. 502-506
-
-
Maródi, L.1
Casanova, J.L.2
-
46
-
-
77956536491
-
Are antibody deficiency disorders associated with a narrower range of cancers than other forms of immunodeficiency?
-
Vajdic, C.M., L. Mao, M.T. van Leeuwen, et al. 2010. Are antibody deficiency disorders associated with a narrower range of cancers than other forms of immunodeficiency? Blood 116: 1228-1223.
-
(2010)
Blood
, vol.116
, pp. 1228-1223
-
-
Vajdic, C.M.1
Mao, L.2
van Leeuwen, M.T.3
-
47
-
-
55249111485
-
Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: report of four cases and review of the literature
-
Erdos, M., M. Garami, E. Rákóczi, et al. 2008. Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: report of four cases and review of the literature. Clin. Immunol. 129: 455-461.
-
(2008)
Clin. Immunol.
, vol.129
, pp. 455-461
-
-
Erdos, M.1
Garami, M.2
Rákóczi, E.3
-
48
-
-
77956130043
-
Oesophageal squamous cell carcinoma in a young adult with IL-12R beta 1 deficiency
-
Cárdenes, M., A. Angel-Moreno, C. Fieschi, et al. 2010. Oesophageal squamous cell carcinoma in a young adult with IL-12R beta 1 deficiency. J. Med. Genet. 47: 635-640.
-
(2010)
J. Med. Genet.
, vol.47
, pp. 635-640
-
-
Cárdenes, M.1
Angel-Moreno, A.2
Fieschi, C.3
-
49
-
-
79955722943
-
Nijmegen breakage syndrome (NBS) as a risk factor for CNS involvement in childhood acute lymphoblastic leukemia
-
Pastorczak, A., M. Stolarska, J. Trelińska, et al. 2011. Nijmegen breakage syndrome (NBS) as a risk factor for CNS involvement in childhood acute lymphoblastic leukemia. Pediatr. Blood Cancer 57: 160-162.
-
(2011)
Pediatr. Blood Cancer
, vol.57
, pp. 160-162
-
-
Pastorczak, A.1
Stolarska, M.2
Trelińska, J.3
-
51
-
-
77951537732
-
Can primary immunodeficiencies help to provide insights into infectious risks of therapeutic antibodies?
-
Maródi, L. & J.L. Casanova. 2010. Can primary immunodeficiencies help to provide insights into infectious risks of therapeutic antibodies? Nat. Rev. Immunol. 10: 299-300.
-
(2010)
Nat. Rev. Immunol.
, vol.10
, pp. 299-300
-
-
Maródi, L.1
Casanova, J.L.2
-
52
-
-
78049476708
-
Primary immunodeficiencies may reveal potential infectious diseases associated with immune-targeting monoclonal antibody treatments
-
Maródi, L. & J.L. Casanova. 2010. Primary immunodeficiencies may reveal potential infectious diseases associated with immune-targeting monoclonal antibody treatments J. Allergy Clin. Immunol. 126: 910-917.
-
(2010)
J. Allergy Clin. Immunol.
, vol.126
, pp. 910-917
-
-
Maródi, L.1
Casanova, J.L.2
-
53
-
-
23244457837
-
Infection versus immunity: what's the balance?
-
Shearer, W.T. 2005. Infection versus immunity: what's the balance? J. Allergy Clin. Immunol. 116: 263-266.
-
(2005)
J. Allergy Clin. Immunol.
, vol.116
, pp. 263-266
-
-
Shearer, W.T.1
-
55
-
-
33646346870
-
Prenatal diagnosis of the WAS R86H sequence variation in heterozygous twins
-
Alapi, K., M. Erdõs, O. Török & L. Maródi. 2006. Prenatal diagnosis of the WAS R86H sequence variation in heterozygous twins. Clin. Chem. 52: 901-903.
-
(2006)
Clin. Chem.
, vol.52
, pp. 901-903
-
-
Alapi, K.1
Erdõs, M.2
Török, O.3
Maródi, L.4
-
56
-
-
79953025343
-
Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
-
Mazza, C., F. Buzi, F. Ortolani, et al. 2011. Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. Clin. Immunol. 139: 6-11.
-
(2011)
Clin. Immunol.
, vol.139
, pp. 6-11
-
-
Mazza, C.1
Buzi, F.2
Ortolani, F.3
-
57
-
-
79954767155
-
Nijmegen breakage syndrome complicated with primary cutaneous tuberculosis
-
Erdõs, M., B. Tóth, I. Veres, et al. 2011. Nijmegen breakage syndrome complicated with primary cutaneous tuberculosis. Pediatr. Infect. Dis. J. 30: 359-360.
-
(2011)
Pediatr. Infect. Dis. J.
, vol.30
, pp. 359-360
-
-
Erdõs, M.1
Tóth, B.2
Veres, I.3
-
58
-
-
76249098353
-
Successful umbilical cord blood stem cell transplantation in a child with WHIM syndrome
-
Kriván, G., M. Erdõs, K. Kállay, et al. 2010. Successful umbilical cord blood stem cell transplantation in a child with WHIM syndrome. Eur. J. Haematol. 84: 274-275.
-
(2010)
Eur. J. Haematol.
, vol.84
, pp. 274-275
-
-
Kriván, G.1
Erdõs, M.2
Kállay, K.3
-
59
-
-
52949142293
-
Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups
-
Jiao, H., B. Tóth, M. Erdõs, et al. 2008. Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. Mol. Immunol. 46: 202-206.
-
(2008)
Mol. Immunol.
, vol.46
, pp. 202-206
-
-
Jiao, H.1
Tóth, B.2
Erdõs, M.3
-
60
-
-
33947511293
-
Retrospective diagnosis of X-linked hyper-IgM syndrome in a family with multiple deaths of affected males
-
Erdõs, M., K. Alapi & L. Maródi. 2007. Retrospective diagnosis of X-linked hyper-IgM syndrome in a family with multiple deaths of affected males. Haematologica 92: 281-282.
-
(2007)
Haematologica
, vol.92
, pp. 281-282
-
-
Erdõs, M.1
Alapi, K.2
Maródi, L.3
-
61
-
-
33845903055
-
Recurrent CXCR4 sequence variation in a girl with incomplete WHIM syndrome
-
Alapi, K., M. Erdõs & L. Maródi. 2007. Recurrent CXCR4 sequence variation in a girl with incomplete WHIM syndrome. Eur. J. Haematol. 78: 86-88.
-
(2007)
Eur. J. Haematol.
, vol.78
, pp. 86-88
-
-
Alapi, K.1
Erdõs, M.2
Maródi, L.3
-
62
-
-
33744968003
-
A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency
-
Kellermayer, R., A.P. Hsu, J. Stankovics, et al. 2006. A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency. J. Hum. Genet. 51: 495-497.
-
(2006)
J. Hum. Genet.
, vol.51
, pp. 495-497
-
-
Kellermayer, R.1
Hsu, A.P.2
Stankovics, J.3
-
63
-
-
33749608829
-
Severe Shwachman-Diamond syndrome phenotype caused by missense mutation in the SBDS gene
-
Erdõs, M., K. Alapi, I. Balogh, et al. 2006. Severe Shwachman-Diamond syndrome phenotype caused by missense mutation in the SBDS gene. Exp. Hematol. 34: 1517-1521.
-
(2006)
Exp. Hematol.
, vol.34
, pp. 1517-1521
-
-
Erdõs, M.1
Alapi, K.2
Balogh, I.3
-
64
-
-
82955249196
-
Cytotoxic T lymphocytes mediate neuronal injury in patients with X-linked agammaglobulinemia and progressive neurodeneretative disease
-
Tuzankina, I., Y. Kobeleva, N. Kiseleva, et al. 2011. Cytotoxic T lymphocytes mediate neuronal injury in patients with X-linked agammaglobulinemia and progressive neurodeneretative disease. Allergy. doi:.
-
(2011)
Allergy.
-
-
Tuzankina, I.1
Kobeleva, Y.2
Kiseleva, N.3
-
65
-
-
26944433748
-
Invasive Cryptococcus laurentii disease in a 9-year-old boy with X-linked hyper-immunoglobulin M syndrome
-
Simon, G., G. Simon, M. Erdõs & L. Maródi. 2005. Invasive Cryptococcus laurentii disease in a 9-year-old boy with X-linked hyper-immunoglobulin M syndrome. Pediatr. Infect. Dis. J 24: 935-937.
-
(2005)
Pediatr. Infect. Dis. J
, vol.24
, pp. 935-937
-
-
Simon, G.1
Simon, G.2
Erdõs, M.3
Maródi, L.4
-
66
-
-
35948933873
-
Neonatal screening for severe combined immune deficiency
-
Puck, J.M. 2007. Neonatal screening for severe combined immune deficiency. Curr. Opin. Allergy Clin. Immunol. 7: 522-527.
-
(2007)
Curr. Opin. Allergy Clin. Immunol.
, vol.7
, pp. 522-527
-
-
Puck, J.M.1
-
67
-
-
79957794697
-
Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: a reliable and inexpensive method using tandem mass spectrometry
-
Azzari, C., G. la Marca & M. Resti. 2011. Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: a reliable and inexpensive method using tandem mass spectrometry. J. Allergy Clin. Immunol. 127: 1394-1399.
-
(2011)
J. Allergy Clin. Immunol
, vol.127
, pp. 1394-1399
-
-
Azzari, C.1
la Marca, G.2
Resti, M.3
-
68
-
-
78149482538
-
Correction of Wiskott-Aldrich syndrome by hematopoietic stem cell gene therapy
-
Boztug, K., M. Schmidt, A. Schwarzer, et al. 2010. Correction of Wiskott-Aldrich syndrome by hematopoietic stem cell gene therapy. N. Engl. J. Med. 363: 1918-1927.
-
(2010)
N. Engl. J. Med.
, vol.363
, pp. 1918-1927
-
-
Boztug, K.1
Schmidt, M.2
Schwarzer, A.3
-
69
-
-
34249890562
-
Gene therapy for severe combined immunodeficiency: are we there yet?
-
Cavazzana-Calvo, M. & A. Fischer. 2007. Gene therapy for severe combined immunodeficiency: are we there yet? J. Clin. Invest. 117: 1456-1465.
-
(2007)
J. Clin. Invest.
, vol.117
, pp. 1456-1465
-
-
Cavazzana-Calvo, M.1
Fischer, A.2
-
70
-
-
19944421384
-
Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector
-
Gaspar, H.B., K.L. Parsley, S. Howe, et al. 2004. Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector. Lancet 364: 2181-2187.
-
(2004)
Lancet
, vol.364
, pp. 2181-2187
-
-
Gaspar, H.B.1
Parsley, K.L.2
Howe, S.3
-
71
-
-
78449233751
-
Update on gene therapy for adenosine deaminase-deficient severe combined immunodeficiency
-
Ferrua, F., I. Brigida & A. Aiuti. 2010. Update on gene therapy for adenosine deaminase-deficient severe combined immunodeficiency. Curr. Opin. Allergy. Clin. Immunol. 10: 551-556.
-
(2010)
Curr. Opin. Allergy. Clin. Immunol.
, vol.10
, pp. 551-556
-
-
Ferrua, F.1
Brigida, I.2
Aiuti, A.3
-
73
-
-
79951475133
-
A decade's perspective on DNA sequencing technology
-
Mardis, E.R. 2011. A decade's perspective on DNA sequencing technology. Nature 470: 198-203.
-
(2011)
Nature
, vol.470
, pp. 198-203
-
-
Mardis, E.R.1
-
74
-
-
79953284685
-
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity
-
Puel, A., S. Cypowyj, J. Bustamante, et al. 2011. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science 332: 65-68.
-
(2011)
Science
, vol.332
, pp. 65-68
-
-
Puel, A.1
Cypowyj, S.2
Bustamante, J.3
-
75
-
-
79961154447
-
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
-
Liu, L., S. Okada, X.F. Kong, et al. 2011. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J. Exp. Med. 208: 1635-1648.
-
(2011)
J. Exp. Med.
, vol.208
, pp. 1635-1648
-
-
Liu, L.1
Okada, S.2
Kong, X.F.3
-
76
-
-
79960094057
-
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis
-
van de Veerdonk, F.L., T.S. Plantinga, A. Hoischen, et al. 2011. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N. Engl. J. Med. 365: 54-61.
-
(2011)
N. Engl. J. Med.
, vol.365
, pp. 54-61
-
-
van de Veerdonk, F.L.1
Plantinga, T.S.2
Hoischen, A.3
-
77
-
-
78649772960
-
Whole-exome-sequencing-based discovery of human FADD deficiency
-
Bolze, A., et al. 2010. Whole-exome-sequencing-based discovery of human FADD deficiency. Am. J. Hum. Genet. 87: 873-881.
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 873-881
-
-
Bolze, A.1
-
78
-
-
78149325696
-
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma
-
Byun, M., et al. 2010. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J. Exp. Med. 207: 2307-2312.
-
(2010)
J. Exp. Med.
, vol.207
, pp. 2307-2312
-
-
Byun, M.1
-
79
-
-
67649126269
-
Primary immunodeficiency diseases: the J Project.
-
Maródi, L. & J.L. Casanova. 2009. Primary immunodeficiency diseases: the J Project. Lancet 373: 2179-2181.
-
(2009)
Lancet
, vol.373
, pp. 2179-2181
-
-
Maródi, L.1
Casanova, J.L.2
-
80
-
-
34248581487
-
Education and worldwide collaboration pays off.
-
Maródi, L. & L.D. Notarangelo. 2007. Education and worldwide collaboration pays off. Nat. Immunol. 8(4): 323-324.
-
(2007)
Nat. Immunol.
, vol.8
, Issue.4
, pp. 323-324
-
-
Maródi, L.1
Notarangelo, L.D.2
-
81
-
-
69849096442
-
From genotype to phenotype. Further studies measuring the impact of a Physician Education and Public Awareness Campaign on early diagnosis and management of primary immunodeficiencies
-
Modell, F., D. Puente & V. Modell. 2009. From genotype to phenotype. Further studies measuring the impact of a Physician Education and Public Awareness Campaign on early diagnosis and management of primary immunodeficiencies. Immunol. Res. 44: 132-149.
-
(2009)
Immunol. Res.
, vol.44
, pp. 132-149
-
-
Modell, F.1
Puente, D.2
Modell, V.3
-
82
-
-
40849113559
-
Impact of a physician education and patient awareness campaign on the diagnosis and management of primary immunodeficiencies
-
Pickett, D., V. Modell, I. Leighton & F. Modell. 2008. Impact of a physician education and patient awareness campaign on the diagnosis and management of primary immunodeficiencies. Immunol. Res. 40: 93-94.
-
(2008)
Immunol. Res.
, vol.40
, pp. 93-94
-
-
Pickett, D.1
Modell, V.2
Leighton, I.3
Modell, F.4
-
83
-
-
79953328508
-
A proposal of warning signs of primary immunodeficiencies in the first year of life
-
Carneiro-Sampaio, M., M.A. Jacob & C.R. Leone. 2011. A proposal of warning signs of primary immunodeficiencies in the first year of life. Pediatr. Allergy Immunol. 22: 345-346.
-
(2011)
Pediatr. Allergy Immunol.
, vol.22
, pp. 345-346
-
-
Carneiro-Sampaio, M.1
Jacob, M.A.2
Leone, C.R.3
-
84
-
-
78751574137
-
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome
-
Gulácsy, V., T. Freiberger, A. Shcherbina, et al. 2011. Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome. Mol. Immunol. 48: 788-792.
-
(2011)
Mol. Immunol.
, vol.48
, pp. 788-792
-
-
Gulácsy, V.1
Freiberger, T.2
Shcherbina, A.3
-
85
-
-
65649138131
-
Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study
-
Tóth, B., A. Volokha, A. Mihas, et al. 2009. Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study. Mol. Immunol. 6: 2140-2146.
-
(2009)
Mol. Immunol.
, vol.6
, pp. 2140-2146
-
-
Tóth, B.1
Volokha, A.2
Mihas, A.3
-
86
-
-
18744411225
-
Cancer risk among patients with IgA deficiency or common variable immunodeficiency and their relatives: a combined Danish and Swedish study
-
Mellemkjaer, L., L. Hammarstrom, V. Andersen, et al. 2002. Cancer risk among patients with IgA deficiency or common variable immunodeficiency and their relatives: a combined Danish and Swedish study. Clin. Exp. Immunol. 130: 495-500.
-
(2002)
Clin. Exp. Immunol.
, vol.130
, pp. 495-500
-
-
Mellemkjaer, L.1
Hammarstrom, L.2
Andersen, V.3
|