-
3
-
-
33646062006
-
Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005
-
Notarangelo L, Casanova JL, Conley ME et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005. J Allergy Clin Immunol 2006 117 : 883 96.
-
(2006)
J Allergy Clin Immunol
, vol.117
, pp. 883-96
-
-
Notarangelo, L.1
Casanova, J.L.2
Conley, M.E.3
-
5
-
-
22944461763
-
Inborn errors of immunity to infection: The rule rather than the exception
-
Casanova JL, Abel L. Inborn errors of immunity to infection: the rule rather than the exception. J Exp Med 2005 202 : 197 201.
-
(2005)
J Exp Med
, vol.202
, pp. 197-201
-
-
Casanova, J.L.1
Abel, L.2
-
6
-
-
34547732069
-
Primary immunodeficiencies: A field in its infancy
-
Casanova JL, Abel L. Primary immunodeficiencies: a field in its infancy. Science 2007 317 : 617 9.
-
(2007)
Science
, vol.317
, pp. 617-9
-
-
Casanova, J.L.1
Abel, L.2
-
7
-
-
23244431851
-
From idiopathic infectious diseases to novel primary immunodeficiencies
-
Casanova JL, Fieschi C, Bustamante J et al. From idiopathic infectious diseases to novel primary immunodeficiencies. J Allergy Clin Immunol 2005 116 : 426 30.
-
(2005)
J Allergy Clin Immunol
, vol.116
, pp. 426-30
-
-
Casanova, J.L.1
Fieschi, C.2
Bustamante, J.3
-
8
-
-
34948872289
-
Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
-
Geha RS, Notarangelo LD, Casanova JL et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 2007 120 : 776 94.
-
(2007)
J Allergy Clin Immunol
, vol.120
, pp. 776-94
-
-
Geha, R.S.1
Notarangelo, L.D.2
Casanova, J.L.3
-
9
-
-
35548965046
-
Immunological and genetic bases of new primary immunodeficiencies
-
Marodi L, Notarangelo LD. Immunological and genetic bases of new primary immunodeficiencies. Nat Rev Immunol 2007 7 : 851 61.
-
(2007)
Nat Rev Immunol
, vol.7
, pp. 851-61
-
-
Marodi, L.1
Notarangelo, L.D.2
-
10
-
-
37149022518
-
Human primary immunodeficiency diseases
-
Fischer A. Human primary immunodeficiency diseases. Immunity 2007 27 : 835 45.
-
(2007)
Immunity
, vol.27
, pp. 835-45
-
-
Fischer, A.1
-
11
-
-
0017077503
-
The resistance factor to Plasmodium vivax in blacks. the Duffy-blood-group genotype, FyFy
-
Miller LH, Mason SJ, Clyde DF, McGinniss MH. The resistance factor to Plasmodium vivax in blacks. The Duffy-blood-group genotype, FyFy. N Engl J Med 1976 295 : 302 4.
-
(1976)
N Engl J Med
, vol.295
, pp. 302-4
-
-
Miller, L.H.1
Mason, S.J.2
Clyde, D.F.3
McGinniss, M.H.4
-
12
-
-
0016592489
-
Erythrocyte receptors for (Plasmodium knowlesi) malaria: Duffy blood group determinants
-
Miller LH, Mason SJ, Dvorak JA, McGinniss MH, Rothman IK. Erythrocyte receptors for (Plasmodium knowlesi) malaria: Duffy blood group determinants. Science 1975 189 : 561 3.
-
(1975)
Science
, vol.189
, pp. 561-3
-
-
Miller, L.H.1
Mason, S.J.2
Dvorak, J.A.3
McGinniss, M.H.4
Rothman, I.K.5
-
13
-
-
0029001881
-
Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals
-
Tournamille C, Colin Y, Cartron JP, Le Van Kim C. Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Nat Genet 1995 10 : 224 8.
-
(1995)
Nat Genet
, vol.10
, pp. 224-8
-
-
Tournamille, C.1
Colin, Y.2
Cartron, J.P.3
Le Van Kim, C.4
-
14
-
-
33749443426
-
Genetics of resistance to HIV infection: Role of co-receptors and co-receptor ligands
-
Arenzana-Seisdedos F, Parmentier M. Genetics of resistance to HIV infection: role of co-receptors and co-receptor ligands. Semin Immunol 2006 18 : 387 403.
-
(2006)
Semin Immunol
, vol.18
, pp. 387-403
-
-
Arenzana-Seisdedos, F.1
Parmentier, M.2
-
15
-
-
0028323257
-
Resistance to parvovirus B19 infection due to lack of virus receptor (erythrocyte P antigen)
-
Brown KE, Hibbs JR, Gallinella G et al. Resistance to parvovirus B19 infection due to lack of virus receptor (erythrocyte P antigen). N Engl J Med 1994 330 : 1192 6.
-
(1994)
N Engl J Med
, vol.330
, pp. 1192-6
-
-
Brown, K.E.1
Hibbs, J.R.2
Gallinella, G.3
-
16
-
-
0038239855
-
Human susceptibility and resistance to Norwalk virus infection
-
Lindesmith L, Moe C, Marionneau S et al. Human susceptibility and resistance to Norwalk virus infection. Nat Med 2003 9 : 548 53.
-
(2003)
Nat Med
, vol.9
, pp. 548-53
-
-
Lindesmith, L.1
Moe, C.2
Marionneau, S.3
-
17
-
-
33745088359
-
A nonsense mutation (428G→A) in the fucosyltransferase FUT2 gene affects the progression of HIV-1 infection
-
Kindberg E, Hejdeman B, Bratt G et al. A nonsense mutation (428G→A) in the fucosyltransferase FUT2 gene affects the progression of HIV-1 infection. AIDS 2006 20 : 685 9.
-
(2006)
AIDS
, vol.20
, pp. 685-9
-
-
Kindberg, E.1
Hejdeman, B.2
Bratt, G.3
-
19
-
-
34548063203
-
Host genetic resistance to symptomatic norovirus (GGII.4) infections in Denmark
-
Kindberg E, Akerlind B, Johnsen C et al. Host genetic resistance to symptomatic norovirus (GGII.4) infections in Denmark. J Clin Microbiol 2007 45 : 2720 2.
-
(2007)
J Clin Microbiol
, vol.45
, pp. 2720-2
-
-
Kindberg, E.1
Akerlind, B.2
Johnsen, C.3
-
20
-
-
33750695005
-
Antibody prevalence and titer to norovirus (genogroup II) correlate with secretor (FUT2) but not with ABO phenotype or Lewis (FUT3) genotype
-
Larsson MM, Rydell GE, Grahn A et al. Antibody prevalence and titer to norovirus (genogroup II) correlate with secretor (FUT2) but not with ABO phenotype or Lewis (FUT3) genotype. J Infect Dis 2006 194 : 1422 7.
-
(2006)
J Infect Dis
, vol.194
, pp. 1422-7
-
-
Larsson, M.M.1
Rydell, G.E.2
Grahn, A.3
-
21
-
-
29744442306
-
A homozygous nonsense mutation (428G→A) in the human secretor (FUT2) gene provides resistance to symptomatic norovirus (GGII) infections
-
Thorven M, Grahn A, Hedlund KO et al. A homozygous nonsense mutation (428G→A) in the human secretor (FUT2) gene provides resistance to symptomatic norovirus (GGII) infections. J Virol 2005 79 : 15351 5.
-
(2005)
J Virol
, vol.79
, pp. 15351-5
-
-
Thorven, M.1
Grahn, A.2
Hedlund, K.O.3
-
22
-
-
14944381958
-
Molecular epidemiology of norovirus infections in Stockholm, Sweden, during the years 2000 to 2003: Association of the GGIIb genetic cluster with infection in children
-
Lindell AT, Grillner L, Svensson L, Wirgart BZ. Molecular epidemiology of norovirus infections in Stockholm, Sweden, during the years 2000 to 2003: association of the GGIIb genetic cluster with infection in children. J Clin Microbiol 2005 43 : 1086 92.
-
(2005)
J Clin Microbiol
, vol.43
, pp. 1086-92
-
-
Lindell, A.T.1
Grillner, L.2
Svensson, L.3
Wirgart, B.Z.4
-
23
-
-
24644483568
-
Influence of the combined ABO, FUT2, and FUT3 polymorphism on susceptibility to Norwalk virus attachment
-
Marionneau S, Airaud F, Bovin NV, Le Pendu J, Ruvoen-Clouet N. Influence of the combined ABO, FUT2, and FUT3 polymorphism on susceptibility to Norwalk virus attachment. J Infect Dis 2005 192 : 1071 7.
-
(2005)
J Infect Dis
, vol.192
, pp. 1071-7
-
-
Marionneau, S.1
Airaud, F.2
Bovin, N.V.3
Le Pendu, J.4
Ruvoen-Clouet, N.5
-
24
-
-
0036082706
-
Norwalk virus binds to histo-blood group antigens present on gastroduodenal epithelial cells of secretor individuals
-
Marionneau S, Ruvoen N, Le Moullac-Vaidye B et al. Norwalk virus binds to histo-blood group antigens present on gastroduodenal epithelial cells of secretor individuals. Gastroenterology 2002 122 : 1967 77.
-
(2002)
Gastroenterology
, vol.122
, pp. 1967-77
-
-
Marionneau, S.1
Ruvoen, N.2
Le Moullac-Vaidye, B.3
-
25
-
-
34548686839
-
Hematological manifestations of primary mitochondrial disorders
-
Finsterer J. Hematological manifestations of primary mitochondrial disorders. Acta Haematol 2007 118 : 88 98.
-
(2007)
Acta Haematol
, vol.118
, pp. 88-98
-
-
Finsterer, J.1
-
27
-
-
35348822545
-
Velocardiofacial syndrome, DiGeorge syndrome: The chromosome 22q11.2 deletion syndromes
-
Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 2007 370 : 1443 52.
-
(2007)
Lancet
, vol.370
, pp. 1443-52
-
-
Kobrynski, L.J.1
Sullivan, K.E.2
-
28
-
-
33750016788
-
Herpes simplex virus encephalitis in human UNC-93B deficiency
-
Casrouge A, Zhang SY, Eidenschenk C et al. Herpes simplex virus encephalitis in human UNC-93B deficiency. Science 2006 314 : 308 12.
-
(2006)
Science
, vol.314
, pp. 308-12
-
-
Casrouge, A.1
Zhang, S.Y.2
Eidenschenk, C.3
-
29
-
-
34347273014
-
Human primary immunodeficiencies of type I interferons
-
Jouanguy E, Zhang SY, Chapgier A et al. Human primary immunodeficiencies of type I interferons. Biochimie 2007 89 : 878 83.
-
(2007)
Biochimie
, vol.89
, pp. 878-83
-
-
Jouanguy, E.1
Zhang, S.Y.2
Chapgier, A.3
-
30
-
-
35948931788
-
Genetic susceptibility to herpes simplex virus 1 encephalitis in mice and humans
-
Sancho-Shimizu V, Zhang SY, Abel L et al. Genetic susceptibility to herpes simplex virus 1 encephalitis in mice and humans. Curr Opin Allergy Clin Immunol 2007 7 : 495 505.
-
(2007)
Curr Opin Allergy Clin Immunol
, vol.7
, pp. 495-505
-
-
Sancho-Shimizu, V.1
Zhang, S.Y.2
Abel, L.3
-
31
-
-
35748935220
-
The roles of human Toll like receptor-dependent induction of interferons in protective immunity to viruses
-
Zhang SY, Jouanguy E, Sancho-Shimizu V et al. The roles of human Toll like receptor-dependent induction of interferons in protective immunity to viruses. Immunol Rev 2007 220 : 225 36.
-
(2007)
Immunol Rev
, vol.220
, pp. 225-36
-
-
Zhang, S.Y.1
Jouanguy, E.2
Sancho-Shimizu, V.3
-
32
-
-
34548699323
-
TLR3 deficiency in patients with herpes simplex encephalitis
-
Zhang SY, Jouanguy E, Ugolini S et al. TLR3 deficiency in patients with herpes simplex encephalitis. Science 2007 317 : 1522 7.
-
(2007)
Science
, vol.317
, pp. 1522-7
-
-
Zhang, S.Y.1
Jouanguy, E.2
Ugolini, S.3
-
33
-
-
33646066801
-
Molecular basis of common variable immunoficiency
-
Castigli E, S. Geha R Molecular basis of common variable immunoficiency. J Allergy Clin Immunol 2006 117 : 740 6.
-
(2006)
J Allergy Clin Immunol
, vol.117
, pp. 740-6
-
-
Castigli, E.1
-
34
-
-
33749438096
-
Common variable immunodeficiency: The power of co-stimulation
-
Salzer U, Grimbacher B. Common variable immunodeficiency: the power of co-stimulation. Semin Immunol 2006 18 : 337 46.
-
(2006)
Semin Immunol
, vol.18
, pp. 337-46
-
-
Salzer, U.1
Grimbacher, B.2
-
36
-
-
0037340349
-
Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency
-
Grimbacher B, Hutloff A, Schlesier M et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat Immunol 2003 4 : 261 8.
-
(2003)
Nat Immunol
, vol.4
, pp. 261-8
-
-
Grimbacher, B.1
Hutloff, A.2
Schlesier, M.3
-
37
-
-
23044443492
-
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans
-
Salzer U, Chapel HM, Webster AD et al. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet 2005 37 : 820 8.
-
(2005)
Nat Genet
, vol.37
, pp. 820-8
-
-
Salzer, U.1
Chapel, H.M.2
Webster, A.D.3
-
38
-
-
23044463627
-
TACI is mutant in common variable immunodeficiency and IgA deficiency
-
Castigli E, Wilson SA, Garibyan L et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet 2005 37 : 829 34.
-
(2005)
Nat Genet
, vol.37
, pp. 829-34
-
-
Castigli, E.1
Wilson, S.A.2
Garibyan, L.3
-
39
-
-
33646347921
-
An antibody-deficiency syndrome due to mutations in the CD19 gene
-
van Zelm MC, Reisli I, van der Burg M et al. An antibody-deficiency syndrome due to mutations in the CD19 gene. N Engl J Med 2006 354 : 1901 12.
-
(2006)
N Engl J Med
, vol.354
, pp. 1901-12
-
-
Van Zelm, M.C.1
Reisli, I.2
Van Der Burg, M.3
-
40
-
-
34047107195
-
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency
-
Pan-Hammarstrom Q, Salzer U, Du L et al. Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet 2007 39 : 429 30.
-
(2007)
Nat Genet
, vol.39
, pp. 429-30
-
-
Pan-Hammarstrom, Q.1
Salzer, U.2
Du, L.3
-
41
-
-
2942648153
-
Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency
-
Laffort C, Le Deist F, Favre M et al. Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency. Lancet 2004 363 : 2051 4.
-
(2004)
Lancet
, vol.363
, pp. 2051-4
-
-
Laffort, C.1
Le Deist, F.2
Favre, M.3
-
42
-
-
0142084745
-
LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1
-
Hacein-Bey-Abina S, Von Kalle C, Schmidt M et al. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science 2003 302 : 415 9.
-
(2003)
Science
, vol.302
, pp. 415-9
-
-
Hacein-Bey-Abina, S.1
Von Kalle, C.2
Schmidt, M.3
-
43
-
-
18244428735
-
Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency
-
Altare F, Durandy A, Lammas D et al. Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science 1998 280 : 1432 5.
-
(1998)
Science
, vol.280
, pp. 1432-5
-
-
Altare, F.1
Durandy, A.2
Lammas, D.3
-
44
-
-
0032535370
-
Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection
-
Altare F, Lammas D, Revy P et al. Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection. J Clin Invest 1998 102 : 2035 40.
-
(1998)
J Clin Invest
, vol.102
, pp. 2035-40
-
-
Altare, F.1
Lammas, D.2
Revy, P.3
-
45
-
-
0032577295
-
Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients
-
de Jong R, Altare F, Haagen IA et al. Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. Science 1998 280 : 1435 8.
-
(1998)
Science
, vol.280
, pp. 1435-8
-
-
De Jong, R.1
Altare, F.2
Haagen, I.A.3
-
46
-
-
0036158322
-
Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds
-
Picard C, Fieschi C, Altare F et al. Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am J Hum Genet 2002 70 : 336 48.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 336-48
-
-
Picard, C.1
Fieschi, C.2
Altare, F.3
-
47
-
-
0037450808
-
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: Medical and immunological implications
-
Fieschi C, Dupuis S, Catherinot E et al. Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med 2003 197 : 527 35.
-
(2003)
J Exp Med
, vol.197
, pp. 527-35
-
-
Fieschi, C.1
Dupuis, S.2
Catherinot, E.3
-
48
-
-
33645784245
-
Genetic disorders of programmed cell death in the immune system
-
Bidere N, Su HC, Lenardo MJ. Genetic disorders of programmed cell death in the immune system. Annu Rev Immunol 2006 24 : 321 52.
-
(2006)
Annu Rev Immunol
, vol.24
, pp. 321-52
-
-
Bidere, N.1
Su, H.C.2
Lenardo, M.J.3
-
49
-
-
34948904198
-
Selective predisposition to bacterial infections in IRAK-4 deficient children: IRAK-4 dependent TLRs are otherwise redundant in protective immunity
-
Ku CL, von Bernuth H, Picard C et al. Selective predisposition to bacterial infections in IRAK-4 deficient children: IRAK-4 dependent TLRs are otherwise redundant in protective immunity. J Exp Med 2007 204 : 2407 22.
-
(2007)
J Exp Med
, vol.204
, pp. 2407-22
-
-
Ku, C.L.1
Von Bernuth, H.2
Picard, C.3
-
50
-
-
0037471003
-
Pyogenic bacterial infections in humans with IRAK-4 deficiency
-
Picard C, Puel A, Bonnet M et al. Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science 2003 299 : 2076 9.
-
(2003)
Science
, vol.299
, pp. 2076-9
-
-
Picard, C.1
Puel, A.2
Bonnet, M.3
-
51
-
-
19944431742
-
Inherited disorders of human Toll-like receptor signalling: Immunological implications
-
Ku CL, Yang K, Bustamante J et al. Inherited disorders of human Toll-like receptor signalling: immunological implications. Immunol Rev 2005 203 : 10 20.
-
(2005)
Immunol Rev
, vol.203
, pp. 10-20
-
-
Ku, C.L.1
Yang, K.2
Bustamante, J.3
-
52
-
-
1042278904
-
Inherited disorders of NF-kappaB-mediated immunity in man
-
Puel A, Picard C, Ku CL, Smahi A, Casanova JL. Inherited disorders of NF-kappaB-mediated immunity in man. Curr Opin Immunol 2004 16 : 34 41.
-
(2004)
Curr Opin Immunol
, vol.16
, pp. 34-41
-
-
Puel, A.1
Picard, C.2
Ku, C.L.3
Smahi, A.4
Casanova, J.L.5
-
53
-
-
27744534928
-
Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda is IRAK-4 dependent and redundant for protective immunity to viruses
-
Yang K, Puel A, Zhang S et al. Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda is IRAK-4 dependent and redundant for protective immunity to viruses. Immunity 2005 23 : 465 78.
-
(2005)
Immunity
, vol.23
, pp. 465-78
-
-
Yang, K.1
Puel, A.2
Zhang, S.3
-
54
-
-
33746469061
-
Impaired neutrophil chemotaxis in Crohn's disease relates to reduced production of chemokines and can be augmented by granulocyte-colony stimulating factor
-
Harbord MW, Marks DJ, Forbes A, Bloom SL, Day RM, Segal AW. Impaired neutrophil chemotaxis in Crohn's disease relates to reduced production of chemokines and can be augmented by granulocyte-colony stimulating factor. Aliment Pharmacol Ther 2006 24 : 651 60.
-
(2006)
Aliment Pharmacol Ther
, vol.24
, pp. 651-60
-
-
Harbord, M.W.1
Marks, D.J.2
Forbes, A.3
Bloom, S.L.4
Day, R.M.5
Segal, A.W.6
-
55
-
-
33344466383
-
Defective acute inflammation in Crohn's disease: A clinical investigation
-
Marks DJ, Harbord MW, MacAllister R et al. Defective acute inflammation in Crohn's disease: a clinical investigation. Lancet 2006 367 : 668 78.
-
(2006)
Lancet
, vol.367
, pp. 668-78
-
-
Marks, D.J.1
Harbord, M.W.2
MacAllister, R.3
-
57
-
-
34447621954
-
Modified skin window technique for the extended characterisation of acute inflammation in humans
-
Marks DJ, Radulovic M, McCartney S, Bloom S, Segal AW. Modified skin window technique for the extended characterisation of acute inflammation in humans. Inflamm Res 2007 56 : 168 74.
-
(2007)
Inflamm Res
, vol.56
, pp. 168-74
-
-
Marks, D.J.1
Radulovic, M.2
McCartney, S.3
Bloom, S.4
Segal, A.W.5
-
58
-
-
38549087476
-
Innate immunity in inflammatory bowel disease: A disease hypothesis
-
Marks D, Segal A. Innate immunity in inflammatory bowel disease: a disease hypothesis. J Pathol 2007 214 : 260 6.
-
(2007)
J Pathol
, vol.214
, pp. 260-6
-
-
Marks, D.1
Segal, A.2
-
59
-
-
33845340501
-
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene
-
Duerr RH, Taylor KD, Brant SR et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 2006 314 : 1461 3.
-
(2006)
Science
, vol.314
, pp. 1461-3
-
-
Duerr, R.H.1
Taylor, K.D.2
Brant, S.R.3
-
60
-
-
33748999808
-
CARD15/NOD2 mutations in Crohn's disease
-
Hugot JP. CARD15/NOD2 mutations in Crohn's disease. Ann N Y Acad Sci 2006 1072 : 9 18.
-
(2006)
Ann N Y Acad Sci
, vol.1072
, pp. 9-18
-
-
Hugot, J.P.1
-
61
-
-
33745775434
-
Mechanisms of disease: Pathogenesis of Crohn's disease and ulcerative colitis
-
Sartor RB. Mechanisms of disease: pathogenesis of Crohn's disease and ulcerative colitis. Nat Clin Pract Gastroenterol Hepatol 2006 3 : 390 407.
-
(2006)
Nat Clin Pract Gastroenterol Hepatol
, vol.3
, pp. 390-407
-
-
Sartor, R.B.1
-
62
-
-
33644931175
-
Complement and properidin deficiencies in meningococcal disease
-
Mathew S, Overturf GD. Complement and properidin deficiencies in meningococcal disease. Pediatr Infect Dis J 2006 25 : 255 6.
-
(2006)
Pediatr Infect Dis J
, vol.25
, pp. 255-6
-
-
Mathew, S.1
Overturf, G.D.2
-
63
-
-
33745665547
-
Mendelian traits that confer predisposition or resistance to specific infections in humans
-
Picard C, Casanova JL, Abel L. Mendelian traits that confer predisposition or resistance to specific infections in humans. Curr Opin Immunol 2006 18 : 383 90.
-
(2006)
Curr Opin Immunol
, vol.18
, pp. 383-90
-
-
Picard, C.1
Casanova, J.L.2
Abel, L.3
-
65
-
-
33750597717
-
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
-
Rigaud S, Fondaneche MC, Lambert N et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 2006 444 : 110 4.
-
(2006)
Nature
, vol.444
, pp. 110-4
-
-
Rigaud, S.1
Fondaneche, M.C.2
Lambert, N.3
-
66
-
-
0038759100
-
The role of interleukin-12 in human infectious diseases: Only a faint signature
-
Fieschi C, Casanova JL. The role of interleukin-12 in human infectious diseases: only a faint signature. Eur J Immunol 2003 33 : 1461 4.
-
(2003)
Eur J Immunol
, vol.33
, pp. 1461-4
-
-
Fieschi, C.1
Casanova, J.L.2
-
67
-
-
4644310307
-
A novel form of complete IL-12/IL-23 receptor {beta}1 deficiency with cell surface-expressed nonfunctional receptors
-
Fieschi C, Bosticardo M, De Beaucoudrey L et al. A novel form of complete IL-12/IL-23 receptor {beta}1 deficiency with cell surface-expressed nonfunctional receptors. Blood 2004 104 : 2095 101.
-
(2004)
Blood
, vol.104
, pp. 2095-101
-
-
Fieschi, C.1
Bosticardo, M.2
De Beaucoudrey, L.3
-
68
-
-
29144484290
-
Tuberculosis in children and adults: Two distinct genetic diseases
-
Alcais A, Fieschi C, Abel L, Casanova JL. Tuberculosis in children and adults: two distinct genetic diseases. J Exp Med 2005 202 : 1617 21.
-
(2005)
J Exp Med
, vol.202
, pp. 1617-21
-
-
Alcais, A.1
Fieschi, C.2
Abel, L.3
Casanova, J.L.4
-
69
-
-
0035879825
-
Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis
-
Altare F, Ensser A, Breiman A et al. Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis. J Infect Dis 2001 184 : 231 6.
-
(2001)
J Infect Dis
, vol.184
, pp. 231-6
-
-
Altare, F.1
Ensser, A.2
Breiman, A.3
-
70
-
-
0038195718
-
Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency
-
Caragol I, Raspall M, Fieschi C et al. Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency. Clin Infect Dis 2003 37 : 302 6.
-
(2003)
Clin Infect Dis
, vol.37
, pp. 302-6
-
-
Caragol, I.1
Raspall, M.2
Fieschi, C.3
-
71
-
-
22944481430
-
Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis
-
Özbek N, Fieschi C, Yilmaz BT et al. Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis. Clin Infect Dis 2005 40 : e55 8.
-
(2005)
Clin Infect Dis
, vol.40
-
-
Özbek, N.1
Fieschi, C.2
Yilmaz, B.T.3
-
72
-
-
0035093630
-
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
-
Doffinger R, Smahi A, Bessia C et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 2001 27 : 277 85.
-
(2001)
Nat Genet
, vol.27
, pp. 277-85
-
-
Doffinger, R.1
Smahi, A.2
Bessia, C.3
-
73
-
-
33749430257
-
Genetics of epidermodysplasia verruciformis: Insights into host defense against papillomaviruses
-
Orth G. Genetics of epidermodysplasia verruciformis: Insights into host defense against papillomaviruses. Semin Immunol 2006 18 : 362 74.
-
(2006)
Semin Immunol
, vol.18
, pp. 362-74
-
-
Orth, G.1
-
74
-
-
0033018650
-
A susceptibility locus for epidermodysplasia verruciformis, an abnormal predisposition to infection with the oncogenic human papillomavirus type 5, maps to chromosome 17qter in a region containing a psoriasis locus
-
Ramoz N, Rueda LA, Bouadjar B, Favre M, Orth G. A susceptibility locus for epidermodysplasia verruciformis, an abnormal predisposition to infection with the oncogenic human papillomavirus type 5, maps to chromosome 17qter in a region containing a psoriasis locus. J Invest Dermatol 1999 112 : 259 63.
-
(1999)
J Invest Dermatol
, vol.112
, pp. 259-63
-
-
Ramoz, N.1
Rueda, L.A.2
Bouadjar, B.3
Favre, M.4
Orth, G.5
-
75
-
-
18744369886
-
Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis
-
Ramoz N, Rueda LA, Bouadjar B, Montoya LS, Orth G, Favre M. Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. Nat Genet 2002 32 : 579 81.
-
(2002)
Nat Genet
, vol.32
, pp. 579-81
-
-
Ramoz, N.1
Rueda, L.A.2
Bouadjar, B.3
Montoya, L.S.4
Orth, G.5
Favre, M.6
-
76
-
-
38749086503
-
Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses
-
Lazarczyk M, Pons C, Mendoza JA, Cassonnet P, Jacob Y, Favre M. Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses. J Exp Med 2008 205 : 35 42.
-
(2008)
J Exp Med
, vol.205
, pp. 35-42
-
-
Lazarczyk, M.1
Pons, C.2
Mendoza, J.A.3
Cassonnet, P.4
Jacob, Y.5
Favre, M.6
-
77
-
-
33846261443
-
Mucociliary clearance-a critical upper airway host defense mechanism and methods of assessment
-
Antunes MB, Cohen NA. Mucociliary clearance-a critical upper airway host defense mechanism and methods of assessment. Curr Opin Allergy Clin Immunol 2007 7 : 5 10.
-
(2007)
Curr Opin Allergy Clin Immunol
, vol.7
, pp. 5-10
-
-
Antunes, M.B.1
Cohen, N.A.2
-
78
-
-
34547123145
-
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease
-
Chapgier A, Boisson-Dupuis S, Jouanguy E et al. Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. PLoS Genet 2006 2 : e131.
-
(2006)
PLoS Genet
, vol.2
-
-
Chapgier, A.1
Boisson-Dupuis, S.2
Jouanguy, E.3
-
79
-
-
33645787761
-
Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo
-
Chapgier A, Wynn RF, Jouanguy E et al. Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo. J Immunol 2006 176 : 5078 83.
-
(2006)
J Immunol
, vol.176
, pp. 5078-83
-
-
Chapgier, A.1
Wynn, R.F.2
Jouanguy, E.3
-
80
-
-
0035854542
-
Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation
-
Dupuis S, Dargemont C, Fieschi C et al. Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science 2001 293 : 300 3.
-
(2001)
Science
, vol.293
, pp. 300-3
-
-
Dupuis, S.1
Dargemont, C.2
Fieschi, C.3
-
81
-
-
0034500805
-
Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion
-
Dupuis S, Doffinger R, Picard C et al. Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion. Immunol Rev 2000 178 : 129 37.
-
(2000)
Immunol Rev
, vol.178
, pp. 129-37
-
-
Dupuis, S.1
Doffinger, R.2
Picard, C.3
-
82
-
-
0037371835
-
Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency
-
Dupuis S, Jouanguy E, Al-Hajjar S et al. Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat Genet 2003 33 : 388 91.
-
(2003)
Nat Genet
, vol.33
, pp. 388-91
-
-
Dupuis, S.1
Jouanguy, E.2
Al-Hajjar, S.3
-
83
-
-
0036219062
-
Genetic dissection of immunity to mycobacteria: The human model
-
Casanova JL, Abel L. Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol 2002 20 : 581 620.
-
(2002)
Annu Rev Immunol
, vol.20
, pp. 581-620
-
-
Casanova, J.L.1
Abel, L.2
-
84
-
-
0033826812
-
Interferon-gamma and interleukin-12 pathway defects and human disease
-
Dorman SE, Holland SM. Interferon-gamma and interleukin-12 pathway defects and human disease. Cytokine Growth Factor Rev 2000 11 : 321 33.
-
(2000)
Cytokine Growth Factor Rev
, vol.11
, pp. 321-33
-
-
Dorman, S.E.1
Holland, S.M.2
-
85
-
-
33749600724
-
Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: Molecular, cellular, and clinical features
-
Filipe-Santos O, Bustamante J, Chapgier A et al. Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. Semin Immunol 2006 18 : 347 61.
-
(2006)
Semin Immunol
, vol.18
, pp. 347-61
-
-
Filipe-Santos, O.1
Bustamante, J.2
Chapgier, A.3
-
86
-
-
4344648175
-
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies
-
Dorman SE, Picard C, Lammas D et al. Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet 2004 364 : 2113 21.
-
(2004)
Lancet
, vol.364
, pp. 2113-21
-
-
Dorman, S.E.1
Picard, C.2
Lammas, D.3
-
87
-
-
0032948177
-
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection
-
Jouanguy E, Lamhamedi-Cherradi S, Lammas D et al. A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. Nature Genet 1999 21 : 370 8.
-
(1999)
Nature Genet
, vol.21
, pp. 370-8
-
-
Jouanguy, E.1
Lamhamedi-Cherradi, S.2
Lammas, D.3
-
88
-
-
34548202258
-
The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction
-
Okada S, Ishikawa N, Shirao K et al. The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction. J Med Genet 2007 44 : 485 91.
-
(2007)
J Med Genet
, vol.44
, pp. 485-91
-
-
Okada, S.1
Ishikawa, N.2
Shirao, K.3
-
89
-
-
0030455878
-
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection
-
Jouanguy E, Altare F, Lamhamedi S et al. Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection. N Engl J Med 1996 335 : 1956 61.
-
(1996)
N Engl J Med
, vol.335
, pp. 1956-61
-
-
Jouanguy, E.1
Altare, F.2
Lamhamedi, S.3
-
90
-
-
0030467174
-
A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection
-
Newport MJ, Huxley CM, Huston S et al. A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med 1996 335 : 1941 9.
-
(1996)
N Engl J Med
, vol.335
, pp. 1941-9
-
-
Newport, M.J.1
Huxley, C.M.2
Huston, S.3
-
91
-
-
39349116765
-
Infections due to various atypical mycobacteria in a norwegian multiplex family with dominant interferon-gamma receptor deficiency
-
Glosli H, Stray-Pedersen A, Brun AC et al. Infections due to various atypical mycobacteria in a norwegian multiplex family with dominant interferon-gamma receptor deficiency. Clin Infect Dis 2008 46 : e23 7.
-
(2008)
Clin Infect Dis
, vol.46
-
-
Glosli, H.1
Stray-Pedersen, A.2
Brun, A.C.3
-
92
-
-
34548237491
-
Two patients with complete defects in interferon gamma receptor-dependent signaling
-
Noordzij JG, Hartwig NG, Verreck FA et al. Two patients with complete defects in interferon gamma receptor-dependent signaling. J Clin Immunol 2007 27 : 490 6.
-
(2007)
J Clin Immunol
, vol.27
, pp. 490-6
-
-
Noordzij, J.G.1
Hartwig, N.G.2
Verreck, F.A.3
-
93
-
-
34047143696
-
Stepwise replication identifies a low-producing lymphotoxin-alpha allele as a major risk factor for early-onset leprosy
-
Alcais A, Alter A, Antoni G et al. Stepwise replication identifies a low-producing lymphotoxin-alpha allele as a major risk factor for early-onset leprosy. Nat Genet 2007 39 : 517 22.
-
(2007)
Nat Genet
, vol.39
, pp. 517-22
-
-
Alcais, A.1
Alter, A.2
Antoni, G.3
-
94
-
-
11844291906
-
Genetic dissection of immunity in leprosy
-
Alcais A, Mira M, Casanova JL, Schurr E, Abel L. Genetic dissection of immunity in leprosy. Curr Opin Immunol 2005 17 : 44 8.
-
(2005)
Curr Opin Immunol
, vol.17
, pp. 44-8
-
-
Alcais, A.1
Mira, M.2
Casanova, J.L.3
Schurr, E.4
Abel, L.5
-
95
-
-
10744220764
-
Susceptibility to leprosy is associated with PARK2 and PACRG
-
Mira MT, Alcais A, Nguyen VT et al. Susceptibility to leprosy is associated with PARK2 and PACRG. Nature 2004 427 : 636 40.
-
(2004)
Nature
, vol.427
, pp. 636-40
-
-
Mira, M.T.1
Alcais, A.2
Nguyen, V.T.3
-
96
-
-
0037370482
-
Chromosome 6q25 is linked to susceptibility to leprosy in a Vietnamese population
-
Mira MT, Alcais A, Van Thuc N et al. Chromosome 6q25 is linked to susceptibility to leprosy in a Vietnamese population. Nat Genet 2003 33 : 412 5.
-
(2003)
Nat Genet
, vol.33
, pp. 412-5
-
-
Mira, M.T.1
Alcais, A.2
Van Thuc, N.3
-
97
-
-
0029902033
-
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency
-
Hirschhorn R, Yang DR, Puck JM, Huie ML, Jiang CK, Kurlandsky LE. Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat Genet 1996 13 : 290 5.
-
(1996)
Nat Genet
, vol.13
, pp. 290-5
-
-
Hirschhorn, R.1
Yang, D.R.2
Puck, J.M.3
Huie, M.L.4
Jiang, C.K.5
Kurlandsky, L.E.6
-
98
-
-
38049139199
-
Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1)
-
Uzel G, Tng E, Rosenzweig SD et al. Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1). Blood 2008 111 : 209 18.
-
(2008)
Blood
, vol.111
, pp. 209-18
-
-
Uzel, G.1
Tng, E.2
Rosenzweig, S.D.3
-
99
-
-
0142209189
-
In vivo reversion to normal of inherited mutations in humans
-
Hirschhorn R. In vivo reversion to normal of inherited mutations in humans. J Med Genet 2003 40 : 721 8.
-
(2003)
J Med Genet
, vol.40
, pp. 721-8
-
-
Hirschhorn, R.1
-
100
-
-
4644240701
-
Autoimmune lymphoproliferative syndrome with somatic Fas mutations
-
Holzelova E, Vonarbourg C, Stolzenberg MC et al. Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N Engl J Med 2004 351 : 1409 18.
-
(2004)
N Engl J Med
, vol.351
, pp. 1409-18
-
-
Holzelova, E.1
Vonarbourg, C.2
Stolzenberg, M.C.3
-
101
-
-
1542542689
-
Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity
-
Doffinger R, Helbert MR, Barcenas-Morales G et al. Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity. Clin Infect Dis 2004 38 : e10 4.
-
(2004)
Clin Infect Dis
, vol.38
-
-
Doffinger, R.1
Helbert, M.R.2
Barcenas-Morales, G.3
-
102
-
-
24644486557
-
Acquired predisposition to mycobacterial disease due to autoantibodies to IFN-gamma
-
Kampmann B, Hemingway C, Stephens A et al. Acquired predisposition to mycobacterial disease due to autoantibodies to IFN-gamma. J Clin Invest 2005 115 : 2480 8.
-
(2005)
J Clin Invest
, vol.115
, pp. 2480-8
-
-
Kampmann, B.1
Hemingway, C.2
Stephens, A.3
-
103
-
-
9144235409
-
Naturally occurring anti-IFN-gamma autoantibody and severe infections with Mycobacterium cheloneae and Burkholderia cocovenenans
-
Hoflich C, Sabat R, Rosseau S et al. Naturally occurring anti-IFN-gamma autoantibody and severe infections with Mycobacterium cheloneae and Burkholderia cocovenenans. Blood 2004 103 : 673 5.
-
(2004)
Blood
, vol.103
, pp. 673-5
-
-
Hoflich, C.1
Sabat, R.2
Rosseau, S.3
-
104
-
-
40449106777
-
Recurrent staphylococcal cellulitis and subcutaneous abscesses in a child with autoantibodies against IL-6
-
Puel A, Picard C, Lorrot M et al. Recurrent staphylococcal cellulitis and subcutaneous abscesses in a child with autoantibodies against IL-6. J Immunol 2008 180 : 647 54.
-
(2008)
J Immunol
, vol.180
, pp. 647-54
-
-
Puel, A.1
Picard, C.2
Lorrot, M.3
-
105
-
-
79953041905
-
Human genetics of infectious diseases
-
In: Vogel, F., Motulsky, A.G., Antonarakis, S.E., Speicher, M., eds. Springer-Verlag, (in press).
-
Alcais A, Abel L, Casanova JL Human genetics of infectious diseases. In : Vogel F, Motulsky AG, Antonarakis SE, Speicher M, eds. Human Genetics: Principles and Approaches. Springer-Verlag, 2008 (in press).
-
(2008)
Human Genetics: Principles and Approaches.
-
-
Alcais, A.1
Abel, L.2
Casanova, J.L.3
-
106
-
-
0347089095
-
The human model: A genetic dissection of immunity to infection in natural conditions
-
Casanova JL, Abel L. The human model: a genetic dissection of immunity to infection in natural conditions. Nat Rev Immunol 2004 4 : 55 66.
-
(2004)
Nat Rev Immunol
, vol.4
, pp. 55-66
-
-
Casanova, J.L.1
Abel, L.2
-
107
-
-
33847209550
-
Human genetics of infectious diseases: A unified theory
-
Casanova JL, Abel L. Human genetics of infectious diseases: a unified theory. EMBO J 2007 26 : 915 22.
-
(2007)
EMBO J
, vol.26
, pp. 915-22
-
-
Casanova, J.L.1
Abel, L.2
-
108
-
-
35548956882
-
Immunology in natura: Clinical, epidemiological, and evolutionary genetics of infectious diseases
-
Quintana-Murci L, Alcais A, Abel L, Casanova JL. Immunology in natura: clinical, epidemiological, and evolutionary genetics of infectious diseases. Nat Immunol 2007 8 : 1165 71.
-
(2007)
Nat Immunol
, vol.8
, pp. 1165-71
-
-
Quintana-Murci, L.1
Alcais, A.2
Abel, L.3
Casanova, J.L.4
|