-
1
-
-
13444266370
-
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
-
Hamosh, A. et al. 2005. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res. 33: D514-517.
-
(2005)
Nucleic Acids Res.
, vol.33
-
-
Hamosh, A.1
-
2
-
-
0036219062
-
Genetic dissection of immunity to mycobacteria: the human model
-
Casanova, J.L. & L. Abel. 2002. Genetic dissection of immunity to mycobacteria: the human model. Annu. Rev. Immunol. 20: 581-620.
-
(2002)
Annu. Rev. Immunol.
, vol.20
, pp. 581-620
-
-
Casanova, J.L.1
Abel, L.2
-
3
-
-
33749600724
-
Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features
-
Filipe-Santos, O. et al. 2006. Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. Semin. Immunol. 18: 347-361.
-
(2006)
Semin. Immunol.
, vol.18
, pp. 347-361
-
-
Filipe-Santos, O.1
-
4
-
-
29144484290
-
Tuberculosis in children and adults: two distinct genetic diseases
-
Alcais, A. et al. 2005. Tuberculosis in children and adults: two distinct genetic diseases. J. Exp. Med. 202: 1617-1621.
-
(2005)
J. Exp. Med.
, vol.202
, pp. 1617-1621
-
-
Alcais, A.1
-
5
-
-
79954588322
-
IL-12Rbeta1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey
-
Boisson-Dupuis, S. et al. 2011. IL-12Rbeta1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey. PLoS One 6: e18524.
-
(2011)
PLoS One
, vol.6
-
-
Boisson-Dupuis, S.1
-
6
-
-
80555135404
-
Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency
-
Tabarsi, P. et al. 2011. Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency. J. Clin. Immunol. 31: 537-539.
-
(2011)
J. Clin. Immunol.
, vol.31
, pp. 537-539
-
-
Tabarsi, P.1
-
7
-
-
0010520554
-
Our experiences in three years of BCG vaccination at the center of the O.P.H.S. at Constantine; study of observed cases (25 cases of complications from BCG vaccination).
-
Mimouni, J. 1951. Our experiences in three years of BCG vaccination at the center of the O.P.H.S. at Constantine; study of observed cases (25 cases of complications from BCG vaccination). Alger. Medicale 55: 1138-1147.
-
(1951)
Alger. Medicale
, vol.55
, pp. 1138-1147
-
-
Mimouni, J.1
-
8
-
-
0029838301
-
Idiopathic disseminated bacillus Calmette-Guerin infection: a French national retrospective study
-
Casanova, J.L. et al. 1996. Idiopathic disseminated bacillus Calmette-Guerin infection: a French national retrospective study. Pediatric 98: 774-778.
-
(1996)
Pediatric
, vol.98
, pp. 774-778
-
-
Casanova, J.L.1
-
9
-
-
33745665547
-
Mendelian traits that confer predisposition or resistance to specific infections in humans
-
Picard, C., J.L. Casanova & L. Abel. 2006. Mendelian traits that confer predisposition or resistance to specific infections in humans. Curr. Opin. Immunol. 18: 383-390.
-
(2006)
Curr. Opin. Immunol.
, vol.18
, pp. 383-390
-
-
Picard, C.1
Casanova, J.L.2
Abel, L.3
-
10
-
-
39249084392
-
Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases
-
Bustamante, J. et al. 2008. Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases. Curr. Opin. Immunol. 20: 39-48.
-
(2008)
Curr. Opin. Immunol.
, vol.20
, pp. 39-48
-
-
Bustamante, J.1
-
11
-
-
51349165853
-
Genetically determined susceptibility to mycobacterial infection
-
Patel, S.Y. et al. 2008. Genetically determined susceptibility to mycobacterial infection. J. Clin. Patho. 61: 1006-1012.
-
(2008)
J. Clin. Patho.
, vol.61
, pp. 1006-1012
-
-
Patel, S.Y.1
-
12
-
-
0033497350
-
Viral infections in interferon-gamma receptor deficiency
-
Dorman, S.E. et al. 1999. Viral infections in interferon-gamma receptor deficiency. J. Pediatr. 135: 640-643.
-
(1999)
J. Pediatr.
, vol.135
, pp. 640-643
-
-
Dorman, S.E.1
-
13
-
-
11144356328
-
HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency
-
Camcioglu, Y. et al. 2004. HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency. J. Pediatr. 144: 519-523.
-
(2004)
J. Pediatr.
, vol.144
, pp. 519-523
-
-
Camcioglu, Y.1
-
14
-
-
0032819175
-
Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options
-
Roesler, J. et al. 1999. Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options. Exp. Hematol 27: 1368-1374.
-
(1999)
Exp. Hematol
, vol.27
, pp. 1368-1374
-
-
Roesler, J.1
-
15
-
-
77957714732
-
Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency
-
Pedraza, S. et al. 2010. Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency. Pediatrics 126: e971-e976.
-
(2010)
Pediatrics
, vol.126
-
-
Pedraza, S.1
-
16
-
-
0036158322
-
Inherited interleukin-12 deficiency: iL12B genotype and clinical phenotype of 13 patients from six kindreds
-
Picard, C. et al. 2002. Inherited interleukin-12 deficiency: iL12B genotype and clinical phenotype of 13 patients from six kindreds. Am. J. Hum. Genet. 70: 336-348.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 336-348
-
-
Picard, C.1
-
17
-
-
70350743107
-
A novel mutation of the IL12RB1 gene in a child with nocardiosis, recurrent salmonellosis and neurofibromatosis type I: first case report from Thailand
-
Luangwedchakarn, V. et al. 2009. A novel mutation of the IL12RB1 gene in a child with nocardiosis, recurrent salmonellosis and neurofibromatosis type I: first case report from Thailand. Asian Pac. J. Allergy Immunol. 27: 161-165.
-
(2009)
Asian Pac. J. Allergy Immunol.
, vol.27
, pp. 161-165
-
-
Luangwedchakarn, V.1
-
18
-
-
33645081359
-
Disseminated histoplasmosis in persons with interferon-gamma receptor 1 deficiency
-
Zerbe, C.S. & S.M. Holland. 2005. Disseminated histoplasmosis in persons with interferon-gamma receptor 1 deficiency. Clin. Infect. Dis. 41: e38-e41.
-
(2005)
Clin. Infect. Dis.
, vol.41
-
-
Zerbe, C.S.1
Holland, S.M.2
-
19
-
-
29644433389
-
Paracoccidioides brasiliensis disseminated disease in a patient with inherited deficiency in the beta1 subunit of the interleukin (IL)-12/IL-23 receptor
-
Moraes-Vasconcelos, D. et al. 2005. Paracoccidioides brasiliensis disseminated disease in a patient with inherited deficiency in the beta1 subunit of the interleukin (IL)-12/IL-23 receptor. Clin. Infect. Dis. 41: e31-e37.
-
(2005)
Clin. Infect. Dis.
, vol.41
-
-
Moraes-Vasconcelos, D.1
-
20
-
-
70049098532
-
Refractory disseminated coccidioidomycosis and mycobacteriosis in interferon-gamma receptor 1 deficiency
-
Vinh, D.C. et al. 2009. Refractory disseminated coccidioidomycosis and mycobacteriosis in interferon-gamma receptor 1 deficiency. Clin. Infect. Dis. 49: e62-e65.
-
(2009)
Clin. Infect. Dis.
, vol.49
-
-
Vinh, D.C.1
-
21
-
-
79951822458
-
Interleukin-12 receptor beta1 deficiency predisposing to disseminated coccidioidomycosis
-
Vinh, D.C. et al. 2011. Interleukin-12 receptor beta1 deficiency predisposing to disseminated coccidioidomycosis. Clin. Infect. Dis. 52: e99-e102.
-
(2011)
Clin. Infect. Dis.
, vol.52
-
-
Vinh, D.C.1
-
22
-
-
34247172461
-
A case of interleukin-12 receptor beta-1 deficiency with recurrent leishmaniasis
-
Sanal, O. et al. 2007. A case of interleukin-12 receptor beta-1 deficiency with recurrent leishmaniasis. Pediatr. Infect. Dis. J. 26: 366-368.
-
(2007)
Pediatr. Infect. Dis. J.
, vol.26
, pp. 366-368
-
-
Sanal, O.1
-
23
-
-
79960219807
-
IRF8 mutations and human dendritic-cell immunodeficiency
-
Hambleton, S. et al. 2011. IRF8 mutations and human dendritic-cell immunodeficiency. N. Engl. J. Med. 365: 127-138.
-
(2011)
N. Engl. J. Med.
, vol.365
, pp. 127-138
-
-
Hambleton, S.1
-
24
-
-
0030467174
-
A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection
-
Newport, M.J. et al. 1996. A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N. Engl. J. Med. 335: 1941-1949.
-
(1996)
N. Engl. J. Med.
, vol.335
, pp. 1941-1949
-
-
Newport, M.J.1
-
25
-
-
0030455878
-
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection
-
Jouanguy, E. et al. 1996. Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection. N. Engl. J. Med. 335: 1956-1961.
-
(1996)
N. Engl. J. Med.
, vol.335
, pp. 1956-1961
-
-
Jouanguy, E.1
-
26
-
-
0032948177
-
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection
-
Jouanguy, E. et al. 1999. A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. Nat. Genet. 21: 370-378.
-
(1999)
Nat. Genet.
, vol.21
, pp. 370-378
-
-
Jouanguy, E.1
-
27
-
-
0034067449
-
In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma
-
Jouanguy, E. et al. 2000. In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. J. Clin. Invest. 105: 1429-1436.
-
(2000)
J. Clin. Invest.
, vol.105
, pp. 1429-1436
-
-
Jouanguy, E.1
-
28
-
-
4344648175
-
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies
-
Dorman, S.E. et al. 2004. Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet 364: 2113-2121.
-
(2004)
Lancet
, vol.364
, pp. 2113-2121
-
-
Dorman, S.E.1
-
29
-
-
77949902855
-
A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon
-
Kong, X.F. et al. 2010. A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon. Hum. Mol. Genet. 19: 434-444.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 434-444
-
-
Kong, X.F.1
-
30
-
-
0032103249
-
Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection
-
Dorman, S.E. & S.M. Holland. 1998. Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection. J. Clin. Invest. 101: 2364-2369.
-
(1998)
J. Clin. Invest.
, vol.101
, pp. 2364-2369
-
-
Dorman, S.E.1
Holland, S.M.2
-
31
-
-
0033967256
-
Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guerin and mycobacterium abscessus infection
-
Doffinger, R. et al. 2000. Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guerin and mycobacterium abscessus infection. J. Infect. Dis. 181: 379-384.
-
(2000)
J. Infect. Dis.
, vol.181
, pp. 379-384
-
-
Doffinger, R.1
-
32
-
-
4644281630
-
A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states
-
Rosenzweig, S.D. et al. 2004. A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states. J. Immunol. 173: 4000-4008.
-
(2004)
J. Immunol.
, vol.173
, pp. 4000-4008
-
-
Rosenzweig, S.D.1
-
33
-
-
22844449795
-
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations
-
Vogt, G. et al. 2005. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat. Genet. 37: 692-700.
-
(2005)
Nat. Genet.
, vol.37
, pp. 692-700
-
-
Vogt, G.1
-
34
-
-
49249138373
-
Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation
-
Vogt, G. et al. 2008. Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation. J. Exp. Med. 205: 1729-1737.
-
(2008)
J. Exp. Med.
, vol.205
, pp. 1729-1737
-
-
Vogt, G.1
-
35
-
-
0035854542
-
Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation
-
Dupuis, S. et al. 2001. Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science 293: 300-303.
-
(2001)
Science
, vol.293
, pp. 300-303
-
-
Dupuis, S.1
-
36
-
-
34547123145
-
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease
-
Chapgier, A. et al. 2006. Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. PLoS. Genet. 2: e131.
-
(2006)
PLoS. Genet.
, vol.2
-
-
Chapgier, A.1
-
37
-
-
0032535370
-
Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and salmonella enteritidis disseminated infection
-
Altare, F. et al. 1998. Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and salmonella enteritidis disseminated infection. J. Clin. Invest. 102: 2035-2040.
-
(1998)
J. Clin. Invest.
, vol.102
, pp. 2035-2040
-
-
Altare, F.1
-
38
-
-
0037450808
-
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications
-
Fieschi, C. et al. 2003. Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J. Exp. Med. 197: 527-535.
-
(2003)
J. Exp. Med.
, vol.197
, pp. 527-535
-
-
Fieschi, C.1
-
39
-
-
4644310307
-
A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors
-
Fieschi, C. et al. 2004. A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors. Blood 104: 2095-2101.
-
(2004)
Blood
, vol.104
, pp. 2095-2101
-
-
Fieschi, C.1
-
40
-
-
78649351360
-
Revisiting human IL-12Rbeta1 deficiency: a survey of 141 patients from 30 countries
-
de Beaucoudrey, L. et al. 2010. Revisiting human IL-12Rbeta1 deficiency: a survey of 141 patients from 30 countries. Medicine 89: 381-402.
-
(2010)
Medicine
, vol.89
, pp. 381-402
-
-
de Beaucoudrey, L.1
-
41
-
-
0037371835
-
Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency
-
Dupuis, S. et al. 2003. Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat. Genet. 33: 388-391.
-
(2003)
Nat. Genet.
, vol.33
, pp. 388-391
-
-
Dupuis, S.1
-
42
-
-
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. et al. 2006. 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. 176: 5078-5083.
-
(2006)
J. Immunol.
, vol.176
, pp. 5078-5083
-
-
Chapgier, A.1
-
43
-
-
78650633201
-
A novel form of human STAT1 deficiency impairing early but not late responses to interferons
-
Kong, X.F. et al. 2010. A novel form of human STAT1 deficiency impairing early but not late responses to interferons. Blood 116: 5895-5906.
-
(2010)
Blood
, vol.116
, pp. 5895-5906
-
-
Kong, X.F.1
-
44
-
-
67651007827
-
A partial form of recessive STAT1 deficiency in humans
-
Chapgier, A. et al. 2009. A partial form of recessive STAT1 deficiency in humans. J. Clin. Invest. 119: 1502-1514.
-
(2009)
J. Clin. Invest.
, vol.119
, pp. 1502-1514
-
-
Chapgier, A.1
-
45
-
-
80051876588
-
Severe impairment of IFN{gamma} and IFN{alpha} responses in cells of a patient with a novel STAT1 splicing mutation
-
Vairo, D. et al. 2011. Severe impairment of IFN{gamma} and IFN{alpha} responses in cells of a patient with a novel STAT1 splicing mutation. Blood 118: 1806-1817.
-
(2011)
Blood
, vol.118
, pp. 1806-1817
-
-
Vairo, D.1
-
46
-
-
34347273014
-
Human primary immunodeficiencies of type I interferons
-
Jouanguy, E. et al. 2007. Human primary immunodeficiencies of type I interferons. Biochimie 89: 878-883.
-
(2007)
Biochimie
, vol.89
, pp. 878-883
-
-
Jouanguy, E.1
-
47
-
-
55149102403
-
Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense
-
Zhang, S.Y. et al. 2008. Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense. Immunol. Rev. 226: 29-40.
-
(2008)
Immunol. Rev.
, vol.226
, pp. 29-40
-
-
Zhang, S.Y.1
-
48
-
-
0029927301
-
Defective monocyte costimulation for IFN-gamma production in familial disseminated mycobacterium avium complex infection: abnormal IL-12 regulation
-
Frucht, D.M. & S.M. Holland. 1996. Defective monocyte costimulation for IFN-gamma production in familial disseminated mycobacterium avium complex infection: abnormal IL-12 regulation. J. Immunol. 157: 411-416.
-
(1996)
J. Immunol
, vol.157
, pp. 411-416
-
-
Frucht, D.M.1
Holland, S.M.2
-
49
-
-
0032927842
-
IL-12-Independent costimulation pathways for interferon-gamma production in familial disseminated mycobacterium avium complex infection
-
Frucht, D.M. et al. 1999. IL-12-Independent costimulation pathways for interferon-gamma production in familial disseminated mycobacterium avium complex infection. Clin. Immunol. 91: 234-241.
-
(1999)
Clin. Immunol.
, vol.91
, pp. 234-241
-
-
Frucht, D.M.1
-
50
-
-
0025999022
-
Rosacea-like lesions due to familial mycobacterium avium-intracellulare infection
-
Nedorost, S.T. et al. 1991. Rosacea-like lesions due to familial mycobacterium avium-intracellulare infection. Int. J. Dermatol. 30: 491-497.
-
(1991)
Int. J. Dermatol.
, vol.30
, pp. 491-497
-
-
Nedorost, S.T.1
-
51
-
-
0028281757
-
Treatment of refractory disseminated nontuberculous mycobacterial infection with interferon gamma. A preliminary report
-
Holland, S.M. et al. 1994. Treatment of refractory disseminated nontuberculous mycobacterial infection with interferon gamma. A preliminary report. N. Engl. J Med. 330: 1348-1355.
-
(1994)
N. Engl. J Med.
, vol.330
, pp. 1348-1355
-
-
Holland, S.M.1
-
52
-
-
33745835468
-
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production
-
Filipe-Santos, O. et al. 2006. X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J. Exp. Med. 203: 1745-1759.
-
(2006)
J. Exp. Med.
, vol.203
, pp. 1745-1759
-
-
Filipe-Santos, O.1
-
53
-
-
0033658369
-
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)
-
Zonana, J. et al. 2000. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am. J. Hum. Genet. 67: 1555-1562.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 1555-1562
-
-
Zonana, J.1
-
54
-
-
0035286726
-
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia
-
Jain, A. et al. 2001. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat. Immunol. 2: 223-228.
-
(2001)
Nat. Immunol.
, vol.2
, pp. 223-228
-
-
Jain, A.1
-
55
-
-
0035093630
-
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
-
Doffinger, R. et al. 2001. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat. Genet. 27: 277-285.
-
(2001)
Nat. Genet.
, vol.27
, pp. 277-285
-
-
Doffinger, R.1
-
56
-
-
0034840007
-
Ectodermal dysplasias: a new clinical-genetic classification
-
Priolo, M. & Lagana, C. 2001. Ectodermal dysplasias: a new clinical-genetic classification. J. Med. Genet. 38: 579-585.
-
(2001)
J. Med. Genet.
, vol.38
, pp. 579-585
-
-
Priolo, M.1
Lagana, C.2
-
57
-
-
0029023846
-
Ectodermal dysplasia and immunodeficiency
-
Abinun, M. 1995. Ectodermal dysplasia and immunodeficiency. Arch. Dis. Child 73: 185.
-
(1995)
Arch. Dis. Child
, vol.73
, pp. 185
-
-
Abinun, M.1
-
58
-
-
0030033284
-
Anhidrotic ectodermal dysplasia associated with specific antibody deficiency
-
Abinun, M. et al. 1996. Anhidrotic ectodermal dysplasia associated with specific antibody deficiency. Eur. J. Pediatr. 155: 146-147.
-
(1996)
Eur. J. Pediatr.
, vol.155
, pp. 146-147
-
-
Abinun, M.1
-
59
-
-
0037385135
-
Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO
-
Carrol, E.D. et al. 2003. Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO. Arch. Dis. Child 88: 340-341.
-
(2003)
Arch. Dis. Child
, vol.88
, pp. 340-341
-
-
Carrol, E.D.1
-
60
-
-
25144493747
-
NEMO mutations in 2 unrelated boys with severe infections and conical teeth
-
Ku, C.L. et al. 2005. NEMO mutations in 2 unrelated boys with severe infections and conical teeth. Pediatrics 115: e615-e619.
-
(2005)
Pediatrics
, vol.115
-
-
Ku, C.L.1
-
61
-
-
79961003254
-
A new mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein
-
Hubeau, M. et al. 2011. A new mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein. Blood 118: 926-935.
-
(2011)
Blood
, vol.118
, pp. 926-935
-
-
Hubeau, M.1
-
62
-
-
33645473267
-
The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation
-
Puel, A. et al. 2006. The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation. Am. J. Hum. Genet. 78: 691-701.
-
(2006)
Am. J. Hum. Genet.
, vol.78
, pp. 691-701
-
-
Puel, A.1
-
63
-
-
4444279550
-
Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia
-
Orange, J.S. et al. 2004. Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia. J. Allergy Clin. Immunol. 114: 650-656.
-
(2004)
J. Allergy Clin. Immunol.
, vol.114
, pp. 650-656
-
-
Orange, J.S.1
-
64
-
-
77953961001
-
Immune deficiency caused by impaired expression of nuclear factor-kappaB essential modifier (NEMO) because of a mutation in the 5' untranslated region of the NEMO gene
-
Mooster, J.L. et al. 2010. Immune deficiency caused by impaired expression of nuclear factor-kappaB essential modifier (NEMO) because of a mutation in the 5' untranslated region of the NEMO gene. J. Allergy Clin. Immunol. 126: 127-132 e7.
-
(2010)
J. Allergy Clin. Immunol.
, vol.126
-
-
Mooster, J.L.1
-
65
-
-
0035281865
-
Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection
-
Mansour, S. et al. 2001. Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. Am. J. Med. Genet. 99: 172-177.
-
(2001)
Am. J. Med. Genet.
, vol.99
, pp. 172-177
-
-
Mansour, S.1
-
66
-
-
0036599324
-
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother
-
Dupuis-Girod, S. et al. 2002. Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics 109: e97.
-
(2002)
Pediatrics
, vol.109
-
-
Dupuis-Girod, S.1
-
67
-
-
0034713270
-
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium
-
Smahi, A. et al. 2000. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 405: 466-472.
-
(2000)
Nature
, vol.405
, pp. 466-472
-
-
Smahi, A.1
-
68
-
-
0036771830
-
The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes
-
Smahi, A. et al. 2002. The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum. Mol. Genet. 11: 2371-2375.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 2371-2375
-
-
Smahi, A.1
-
69
-
-
0035089759
-
Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma)
-
Aradhya, S. et al. 2001. Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). Am. J. Hum. Genet. 68: 765-771.
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 765-771
-
-
Aradhya, S.1
-
70
-
-
0034891223
-
Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID)
-
Kosaki, K. et al. 2001. Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). Am. J. Hum. Genet. 69: 664-666.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 664-666
-
-
Kosaki, K.1
-
71
-
-
2942627117
-
X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival
-
Nishikomori, R. et al. 2004. X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival. Blood 103: 4565-4572.
-
(2004)
Blood
, vol.103
, pp. 4565-4572
-
-
Nishikomori, R.1
-
72
-
-
85047693229
-
Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation
-
Jain, A. et al. 2004. Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation. J. Clin. Invest. 114: 1593-1602.
-
(2004)
J. Clin. Invest.
, vol.114
, pp. 1593-1602
-
-
Jain, A.1
-
73
-
-
30144437157
-
Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation
-
Orstavik, K.H. et al. 2006. Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. Am. J. Med. Genet. A 140: 31-39.
-
(2006)
Am. J. Med. Genet. A
, vol.140
, pp. 31-39
-
-
Orstavik, K.H.1
-
74
-
-
14944385521
-
Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome
-
Lee, W.I. 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
-
75
-
-
33846461179
-
IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease
-
Ku, C.L. et al. 2007. IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease. J. Med. Genet. 44: 16-23.
-
(2007)
J. Med. Genet.
, vol.44
, pp. 16-23
-
-
Ku, C.L.1
-
76
-
-
33646824119
-
Transient hemophagocytosis with deficient cellular cytotoxicity, monoclonal immunoglobulin M gammopathy, increased T-cell numbers, and hypomorphic NEMO mutation
-
Pachlopnik Schmid, J.M. et al. 2006. Transient hemophagocytosis with deficient cellular cytotoxicity, monoclonal immunoglobulin M gammopathy, increased T-cell numbers, and hypomorphic NEMO mutation. Pediatrics 117: e1049-e1056.
-
(2006)
Pediatrics
, vol.117
-
-
Pachlopnik Schmid, J.M.1
-
77
-
-
34250182439
-
Correction of immunodeficiency associated with NEMO mutation by umbilical cord blood transplantation using a reduced-intensity conditioning regimen
-
Tono, C. et al. 2007. Correction of immunodeficiency associated with NEMO mutation by umbilical cord blood transplantation using a reduced-intensity conditioning regimen. Bone Marrow Transplant 39: 801-804.
-
(2007)
Bone Marrow Transplant
, vol.39
, pp. 801-804
-
-
Tono, C.1
-
78
-
-
57149141634
-
Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity
-
Hanson, E.P., L. Monaco-Shawver, L.A. Solt, et al. 2008. Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J. Allergy Clin. Immunol. 122: e1169-e1177.
-
(2008)
J. Allergy Clin. Immunol.
, vol.122
-
-
Hanson, E.P.1
Monaco-Shawver, L.2
Solt, L.A.3
-
79
-
-
41449110537
-
IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function
-
Salt, B.H., J.E. Niemela, R. Pandey, et al. 2008. IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function. J. Allergy Clin. Immunol. 121: 976-982.
-
(2008)
J. Allergy Clin. Immunol.
, vol.121
, pp. 976-982
-
-
Salt, B.H.1
Niemela, J.E.2
Pandey, R.3
-
80
-
-
41149102026
-
X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis
-
Mancini, A.J., L.P. Lawley & G. Uzel. 2008. X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis. Arch. Dermatol. 144: 342-346.
-
(2008)
Arch. Dermatol.
, vol.144
, pp. 342-346
-
-
Mancini, A.J.1
Lawley, L.P.2
Uzel, G.3
-
81
-
-
33746830528
-
Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency
-
Dupuis-Girod, S. et al. 2006. Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency. Pediatrics 118: e205-e211.
-
(2006)
Pediatrics
, vol.118
-
-
Dupuis-Girod, S.1
-
82
-
-
77957663727
-
A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID)
-
Roberts, C.M. et al. 2010. A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). Eur. J. Pediatr. 169: 1403-1407.
-
(2010)
Eur. J. Pediatr.
, vol.169
, pp. 1403-1407
-
-
Roberts, C.M.1
-
83
-
-
61649103747
-
Structural basis for recognition of diubiquitins by NEMO
-
Lo, Y.C. et al. 2009. Structural basis for recognition of diubiquitins by NEMO. Mol. Cell 33: 602-615.
-
(2009)
Mol. Cell
, vol.33
, pp. 602-615
-
-
Lo, Y.C.1
-
84
-
-
34249937720
-
A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease
-
Bustamante, J. et al. 2007. A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease. J. Med. Genet, 44: e65.
-
(2007)
J. Med. Genet
, vol.44
-
-
Bustamante, J.1
-
85
-
-
79951647077
-
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease
-
Bustamante, J. et al. 2011. Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. Nat. Immunol. 12: 213-221.
-
(2011)
Nat. Immunol.
, vol.12
, pp. 213-221
-
-
Bustamante, J.1
-
86
-
-
0022494269
-
Cloning the gene for an inherited human disorder-chronic granulomatous disease-on the basis of its chromosomal location
-
Royer-Pokora, B. et al. 1986. Cloning the gene for an inherited human disorder-chronic granulomatous disease-on the basis of its chromosomal location. Nature 322: 32-38.
-
(1986)
Nature
, vol.322
, pp. 32-38
-
-
Royer-Pokora, B.1
-
87
-
-
0023251352
-
The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex
-
Dinauer, M.C. et al. 1987. The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex. Nature 327: 717-720.
-
(1987)
Nature
, vol.327
, pp. 717-720
-
-
Dinauer, M.C.1
-
88
-
-
0023191301
-
The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245
-
Teahan, C. et al. 1987. The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245. Nature 327: 720-721.
-
(1987)
Nature
, vol.327
, pp. 720-721
-
-
Teahan, C.1
-
89
-
-
34249697560
-
Chronic granulomatous disease
-
H.D. Ochs, C.I. Edvards Smith & J.M. Puch, Eds.: Oxford University Press, New York.
-
Roos, D., T.W. Kuijpers & J.T. Curnutte. 2007. Chronic granulomatous disease. In Primary Immunodeficiency Diseases. A Molecular and Genetic Approach. H.D. Ochs, C.I. Edvards Smith & J.M. Puch, Eds.: 525-549. Oxford University Press, New York.
-
(2007)
Primary Immunodeficiency Diseases. A Molecular and Genetic Approach
, pp. 525-549
-
-
Roos, D.1
Kuijpers, T.W.2
Curnutte, J.T.3
-
90
-
-
34250875069
-
BCG-osis and tuberculosis in a child with chronic granulomatous disease
-
Bustamante, J. et al. 2007. BCG-osis and tuberculosis in a child with chronic granulomatous disease. J. Allergy Clin. Immunol. 120: 32-38.
-
(2007)
J. Allergy Clin. Immunol.
, vol.120
, pp. 32-38
-
-
Bustamante, J.1
-
91
-
-
44949109341
-
Susceptibility to mycobacterial infections in children with X-linked chronic granulomatous disease: a review of 17 patients living in a region endemic for tuberculosis
-
Lee, P.P. et al. 2008. Susceptibility to mycobacterial infections in children with X-linked chronic granulomatous disease: a review of 17 patients living in a region endemic for tuberculosis. Pediatr. Infect. Dis. J. 27: 224-230.
-
(2008)
Pediatr. Infect. Dis. J.
, vol.27
, pp. 224-230
-
-
Lee, P.P.1
-
93
-
-
77956879800
-
Hematologically important mutations: x-linked chronic granulomatous disease (third update)
-
Roos, D. et al. 2010. Hematologically important mutations: x-linked chronic granulomatous disease (third update). Blood Cells Mol. Dis. 45: 246-265.
-
(2010)
Blood Cells Mol. Dis.
, vol.45
, pp. 246-265
-
-
Roos, D.1
-
94
-
-
67650744339
-
Primary B cell immunodeficiencies: comparisons and contrasts
-
Conley, M.E., et al. 2009. Primary B cell immunodeficiencies: comparisons and contrasts. Annu. Rev. Immunol. 27: 199-227.
-
(2009)
Annu. Rev. Immunol.
, vol.27
, pp. 199-227
-
-
Conley, M.E.1
-
95
-
-
70349747024
-
Novel genetic etiologies of severe congenital neutropenia
-
Boztug, K. & C. Klein. 2009. Novel genetic etiologies of severe congenital neutropenia. Curr. Opin. Immunol. 21: 472-480.
-
(2009)
Curr. Opin. Immunol.
, vol.21
, pp. 472-480
-
-
Boztug, K.1
Klein, C.2
-
96
-
-
17644377258
-
How neutrophils kill microbes
-
Segal, A.W. 2005. How neutrophils kill microbes. Annu. Rev. Immunol. 23: 197-223.
-
(2005)
Annu. Rev. Immunol.
, vol.23
, pp. 197-223
-
-
Segal, A.W.1
-
97
-
-
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
-
98
-
-
70349220934
-
Human genetics of infectious diseases: between proof of principle and paradigm
-
Alcais, A., L. Abel & J.L. Casanova. 2009. Human genetics of infectious diseases: between proof of principle and paradigm. J. Clin. Invest. 119: 2506-2514.
-
(2009)
J. Clin. Invest.
, vol.119
, pp. 2506-2514
-
-
Alcais, A.1
Abel, L.2
Casanova, J.L.3
-
99
-
-
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
-
100
-
-
77957020774
-
Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?
-
Alcais, A. et al. 2011. Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity? Ann. N.Y. Acad. Sci. 1214: 18-33.
-
(2011)
Ann. N.Y. Acad. Sci.
, vol.1214
, pp. 18-33
-
-
Alcais, A.1
|