PubRank

Laurent Abel

Author PubWeight™ 230.91‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol 2001 6.92
2 Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science 2011 6.19
3 TLR3 deficiency in patients with herpes simplex encephalitis. Science 2007 5.86
4 Pyogenic bacterial infections in humans with MyD88 deficiency. Science 2008 4.92
5 Herpes simplex virus encephalitis in human UNC-93B deficiency. Science 2006 4.26
6 Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med 2010 3.98
7 Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med 2008 3.85
8 Primary immunodeficiencies: a field in its infancy. Science 2007 3.67
9 Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med 2011 3.63
10 IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med 2011 3.29
11 Susceptibility to leprosy is associated with PARK2 and PACRG. Nature 2004 3.07
12 Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity. J Exp Med 2007 2.85
13 Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med 2010 2.70
14 Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. Immunity 2010 2.47
15 Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. Kidney Int 2009 2.40
16 Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense. PLoS Genet 2009 2.35
17 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 2008 2.35
18 Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore) 2010 2.33
19 Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells. Nature 2012 2.32
20 Evaluation of a model for efficient screening of tuberculosis contact subjects. Am J Respir Crit Care Med 2008 2.32
21 Human TLRs and IL-1Rs in host defense: natural insights from evolutionary, epidemiological, and clinical genetics. Annu Rev Immunol 2011 2.29
22 Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. Medicine (Baltimore) 2010 2.26
23 Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity? Ann N Y Acad Sci 2010 2.20
24 Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med 2003 2.19
25 X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med 2006 2.18
26 Whole-exome-sequencing-based discovery of human FADD deficiency. Am J Hum Genet 2010 2.17
27 IL28B alleles associated with poor hepatitis C virus (HCV) clearance protect against inflammation and fibrosis in patients infected with non-1 HCV genotypes. Hepatology 2011 2.11
28 Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency. Science 2012 2.06
29 Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet 2005 1.99
30 Immunology in natura: clinical, epidemiological and evolutionary genetics of infectious diseases. Nat Immunol 2007 1.96
31 Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. J Clin Invest 2011 1.88
32 Human genetics of infectious diseases: between proof of principle and paradigm. J Clin Invest 2009 1.84
33 Tuberculosis in children and adults: two distinct genetic diseases. J Exp Med 2005 1.80
34 The human model: a genetic dissection of immunity to infection in natural conditions. Nat Rev Immunol 2004 1.78
35 A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. J Clin Invest 2005 1.77
36 Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. Nat Immunol 2011 1.76
37 Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity. J Exp Med 2011 1.71
38 Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am J Hum Genet 2001 1.70
39 Tuberculin skin test and in vitro assays provide complementary measures of antimycobacterial immunity in children and adolescents. Chest 2009 1.68
40 Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines? Curr Opin Immunol 2010 1.66
41 Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases. Curr Opin Immunol 2008 1.62
42 A partial form of recessive STAT1 deficiency in humans. J Clin Invest 2009 1.59
43 Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science 2013 1.57
44 Stepwise replication identifies a low-producing lymphotoxin-alpha allele as a major risk factor for early-onset leprosy. Nat Genet 2007 1.56
45 Inborn errors of immunity to infection: the rule rather than the exception. J Exp Med 2005 1.56
46 Revisiting Crohn's disease as a primary immunodeficiency of macrophages. J Exp Med 2009 1.54
47 Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes. Curr Opin Immunol 2012 1.51
48 An autosomal dominant major gene confers predisposition to pulmonary tuberculosis in adults. J Exp Med 2006 1.48
49 Human Toll-like receptor-dependent induction of interferons in protective immunity to viruses. Immunol Rev 2007 1.47
50 Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr Opin Allergy Clin Immunol 2012 1.43
51 Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases. Ann N Y Acad Sci 2011 1.43
52 Two loci control tuberculin skin test reactivity in an area hyperendemic for tuberculosis. J Exp Med 2009 1.38
53 Primary immunodeficiency diseases worldwide: more common than generally thought. J Clin Immunol 2012 1.36
54 Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency. J Clin Invest 2012 1.35
55 Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood. J Exp Med 2012 1.35
56 An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. Immunity 2013 1.35
57 The interplay between environmental and host factors during an outbreak of visceral leishmaniasis in eastern Sudan. Microbes Infect 2002 1.34
58 Human genetics of infectious diseases: a unified theory. EMBO J 2007 1.32
59 Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nat Genet 2008 1.31
60 Chromosome 6q25 is linked to susceptibility to leprosy in a Vietnamese population. Nat Genet 2003 1.30
61 Alleles of the NRAMP1 gene are risk factors for pediatric tuberculosis disease. Proc Natl Acad Sci U S A 2005 1.30
62 Inherited and acquired immunodeficiencies underlying tuberculosis in childhood. Immunol Rev 2015 1.29
63 Genetic susceptibility to herpes simplex virus 1 encephalitis in mice and humans. Curr Opin Allergy Clin Immunol 2007 1.26
64 Human primary immunodeficiencies of type I interferons. Biochimie 2007 1.23
65 TLR3 immunity to infection in mice and humans. Curr Opin Immunol 2013 1.22
66 Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds. Medicine (Baltimore) 2013 1.22
67 A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8. Am J Hum Genet 2006 1.22
68 High heritability of antimycobacterial immunity in an area of hyperendemicity for tuberculosis disease. J Infect Dis 2010 1.21
69 IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey. PLoS One 2011 1.20
70 Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases. J Pediatr 2010 1.17
71 The genetic theory of infectious diseases: a brief history and selected illustrations. Annu Rev Genomics Hum Genet 2013 1.17
72 Age is an important risk factor for onset and sequelae of reversal reactions in Vietnamese patients with leprosy. Clin Infect Dis 2006 1.16
73 A role for interleukin-12/23 in the maturation of human natural killer and CD56+ T cells in vivo. Blood 2008 1.16
74 A major susceptibility locus on chromosome 22q12 plays a critical role in the control of kala-azar. Am J Hum Genet 2003 1.14
75 Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood. J Exp Med 2013 1.14
76 Genetic dissection of immunity in leprosy. Curr Opin Immunol 2005 1.13
77 Analysis of IL28B variants in an Egyptian population defines the 20 kilobases minimal region involved in spontaneous clearance of hepatitis C virus. PLoS One 2012 1.13
78 Human Mannose-binding Lectin in Immunity: Friend, Foe, or Both? J Exp Med 2004 1.12
79 A novel form of human STAT1 deficiency impairing early but not late responses to interferons. Blood 2010 1.11
80 The human gene connectome as a map of short cuts for morbid allele discovery. Proc Natl Acad Sci U S A 2013 1.10
81 Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds. Hum Mol Genet 2011 1.10
82 Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients. Blood 2011 1.09
83 Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection. Gastroenterology 2012 1.09
84 Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles. Hum Mol Genet 2006 1.09
85 Association of killer cell immunoglobulin-like receptor genes with Hodgkin's lymphoma in a familial study. PLoS One 2007 1.09
86 Primary immunodeficiencies of protective immunity to primary infections. Clin Immunol 2010 1.08
87 Leprosy as a genetic model for susceptibility to common infectious diseases. Hum Genet 2008 1.08
88 Mendelian traits that confer predisposition or resistance to specific infections in humans. Curr Opin Immunol 2006 1.08
89 Merkel cell polyomavirus infection occurs during early childhood and is transmitted between siblings. J Clin Virol 2013 1.06
90 Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage region. Am J Hum Genet 2013 1.06
91 Genetic predisposition to leprosy: A major gene reveals novel pathways of immunity to Mycobacterium leprae. Semin Immunol 2006 1.05
92 A functional promoter variant in IL12B predisposes to cerebral malaria. Hum Mol Genet 2008 1.05
93 Positive correlation between Epstein-Barr virus viral load and anti-viral capsid immunoglobulin G titers determined for Hodgkin's lymphoma patients and their relatives. J Clin Microbiol 2006 1.03
94 Leprosy as a genetic disease. Mamm Genome 2010 1.02
95 A general efficient and flexible approach for genome-wide association analyses of imputed genotypes in family-based designs. Genet Epidemiol 2014 1.02
96 Crohn's disease susceptibility genes are associated with leprosy in the Vietnamese population. J Infect Dis 2012 1.02
97 Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. N Engl J Med 2015 1.02
98 A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome. J Pediatr 2012 1.01
99 Genetic and functional analysis of common MRC1 exon 7 polymorphisms in leprosy susceptibility. Hum Genet 2009 1.00
100 Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency. J Clin Immunol 2011 1.00
101 Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections. J Clin Invest 2012 1.00
102 Human genetics of common mycobacterial infections. Immunol Res 2003 1.00
103 Rhinoscleroma: a French national retrospective study of epidemiological and clinical features. Clin Infect Dis 2008 0.99
104 A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease. J Med Genet 2007 0.99
105 Evidence for a recessive major gene predisposing to human herpesvirus 8 (HHV-8) infection in a population in which HHV-8 is endemic. J Infect Dis 2003 0.99
106 Classic Kaposi sarcoma in 3 unrelated Turkish children born to consanguineous kindreds. Pediatrics 2010 0.99
107 High titers of anti-human herpesvirus 8 antibodies in elderly males in an endemic population. J Natl Cancer Inst 2002 0.98
108 Revisiting human primary immunodeficiencies. J Intern Med 2008 0.97
109 Respective roles of serological status and blood specific antihuman herpesvirus 8 antibody levels in human herpesvirus 8 intrafamilial transmission in a highly endemic area. Cancer Res 2004 0.97
110 NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus. J Allergy Clin Immunol 2011 0.96
111 Integrative study of pandemic A/H1N1 influenza infections: design and methods of the CoPanFlu-France cohort. BMC Public Health 2012 0.96
112 Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency. Clin Infect Dis 2013 0.95
113 From infectious diseases to primary immunodeficiencies. Immunol Allergy Clin North Am 2008 0.94
114 Genes and environment in susceptibility to visceral leishmaniasis. C R Biol 2006 0.94
115 New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein. Blood 2011 0.93
116 A major gene controls leprosy susceptibility in a hyperendemic isolated population from north of Brazil. J Infect Dis 2010 0.92
117 Inherited MST1 deficiency underlies susceptibility to EV-HPV infections. PLoS One 2012 0.91
118 Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco. J Infect Dis 2004 0.91
119 HGCS: an online tool for prioritizing disease-causing gene variants by biological distance. BMC Genomics 2014 0.91
120 The Maximum-Likelihood-Binomial method revisited: a robust approach for model-free linkage analysis of quantitative traits in large sibships. Genet Epidemiol 2011 0.91
121 EVER2 deficiency is associated with mild T-cell abnormalities. J Clin Immunol 2012 0.91
122 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 2009 0.90
123 Linkage disequilibrium pattern and age-at-diagnosis are critical for replicating genetic associations across ethnic groups in leprosy. Hum Genet 2012 0.90
124 Tuberculin skin test reactivity is dependent on host genetic background in Colombian tuberculosis household contacts. Clin Infect Dis 2012 0.90
125 Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. J Clin Invest 2017 0.90
126 Factors associated with post-seasonal serological titer and risk factors for infection with the pandemic A/H1N1 virus in the French general population. PLoS One 2013 0.90
127 Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease. J Med Genet 2011 0.89
128 Human leukocyte antigen class I region single-nucleotide polymorphisms are associated with leprosy susceptibility in Vietnam and India. J Infect Dis 2011 0.88
129 Gene set signature of reversal reaction type I in leprosy patients. PLoS Genet 2013 0.88
130 Forward genetics of infectious diseases: immunological impact. Trends Immunol 2002 0.87
131 Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease. Hum Mol Genet 2012 0.87
132 A major susceptibility locus for HTLV-1 infection in childhood maps to chromosome 6q27. Hum Mol Genet 2006 0.86
133 Strong correlations of anti-viral capsid antigen antibody levels in first-degree relatives from families with Epstein-Barr virus-related lymphomas. J Infect Dis 2009 0.86
134 Evaluation of approaches to identify associated SNPs that explain the linkage evidence in nuclear families with affected siblings. Hum Hered 2009 0.86
135 A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant. PLoS One 2012 0.85
136 Interest of tumor necrosis factor-alpha -308 G/A and interleukin-10 -592 C/A polymorphisms in human African trypanosomiasis. Infect Genet Evol 2006 0.84
137 Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency. Am J Med Genet A 2010 0.84
138 Identification of a major locus, TNF1, that controls BCG-triggered tumor necrosis factor production by leukocytes in an area hyperendemic for tuberculosis. Clin Infect Dis 2013 0.83
139 Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation. Blood 2013 0.83
140 Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection. Gut 2010 0.82
141 Genotype combinations of two IL4 polymorphisms influencing IL-4 plasma levels are associated with different risks of severe malaria in the Malian population. Immunogenetics 2015 0.81
142 [Epidemiology of human herpes virus 8 (HHV-8) or the herpes virus associated with Kaposi's sarcoma (KSHV)]. Pathol Biol (Paris) 2002 0.81
143 High occurence of DRB1 11 in chronic lymphocytic leukaemia families. Br J Haematol 2002 0.80
144 Evidence for a dominant major gene conferring predisposition to hepatitis C virus infection in endemic conditions. Hum Genet 2009 0.79
145 Mendelian predisposition to herpes simplex encephalitis. Handb Clin Neurol 2013 0.79
146 A major locus on chromosome 3p22 conferring predisposition to human herpesvirus 8 infection. Eur J Hum Genet 2012 0.78
147 Quantifying genomic imprinting in the presence of linkage. Biometrics 2006 0.78
148 Human monogenic disorders that confer predisposition to specific infections. Novartis Found Symp 2007 0.77
149 The proteome of Toll-like receptor 3-stimulated human immortalized fibroblasts: implications for susceptibility to herpes simplex virus encephalitis. J Allergy Clin Immunol 2013 0.77
150 A recessive major gene controls the mitsuda reaction in a region endemic for leprosy. J Infect Dis 2005 0.76
151 [Leprosy: a paradigm for the study of human genetic susceptibility to infectious diseases]. Med Sci (Paris) 2008 0.76
152 CUBN and NEBL common variants in the chromosome 10p13 linkage region are associated with multibacillary leprosy in Vietnam. Hum Genet 2014 0.76
153 Human genetics of infectious diseases: Fundamental insights from clinical studies. Semin Immunol 2006 0.76
154 Inclusion of unaffected sibs increases power in model-free linkage analysis of a behavioral trait. BMC Genet 2005 0.75
155 Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency. J Clin Immunol 2014 0.75
156 Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds. J Clin Immunol 2014 0.75
157 Genomewide linkage analysis of the granulomatous mitsuda reaction implicates chromosomal regions 2q35 and 17q21. J Infect Dis 2007 0.75
158 [Genetic predisposition to herpetic meningo-encephalitis in children]. Bull Acad Natl Med 2010 0.75
159 Removing phenotypic distribution assumptions from tests of linkage disequilibrium for quantitative traits. Genet Epidemiol 2003 0.75
160 Multifocal Tuberculous osteomyelitis: possible inherited interferon gamma axis defect. Indian J Pediatr 2012 0.75
161 [Gains of glycosylation mutations]. Med Sci (Paris) 2006 0.75
162 [Identification of a new leprosy susceptibility gene with positional cloning]. Med Sci (Paris) 2004 0.75