Published in Med Sci (Paris) on September 13, 2004
Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol (2001) 6.92
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science (2011) 6.19
TLR3 deficiency in patients with herpes simplex encephalitis. Science (2007) 5.86
Pyogenic bacterial infections in humans with MyD88 deficiency. Science (2008) 4.92
Herpes simplex virus encephalitis in human UNC-93B deficiency. Science (2006) 4.26
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
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
Primary immunodeficiencies: a field in its infancy. Science (2007) 3.67
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med (2011) 3.63
IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med (2011) 3.29
Susceptibility to leprosy is associated with PARK2 and PACRG. Nature (2004) 3.07
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
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med (2010) 2.70
Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. Immunity (2010) 2.47
Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. Kidney Int (2009) 2.40
Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense. PLoS Genet (2009) 2.35
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
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore) (2010) 2.33
Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells. Nature (2012) 2.32
Evaluation of a model for efficient screening of tuberculosis contact subjects. Am J Respir Crit Care Med (2008) 2.32
Human TLRs and IL-1Rs in host defense: natural insights from evolutionary, epidemiological, and clinical genetics. Annu Rev Immunol (2011) 2.29
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. Medicine (Baltimore) (2010) 2.26
Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity? Ann N Y Acad Sci (2010) 2.20
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med (2003) 2.19
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med (2006) 2.18
Whole-exome-sequencing-based discovery of human FADD deficiency. Am J Hum Genet (2010) 2.17
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
Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency. Science (2012) 2.06
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet (2005) 1.99
Immunology in natura: clinical, epidemiological and evolutionary genetics of infectious diseases. Nat Immunol (2007) 1.96
Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. J Clin Invest (2011) 1.88
Human genetics of infectious diseases: between proof of principle and paradigm. J Clin Invest (2009) 1.84
Bacillus Calmette Guerin triggers the IL-12/IFN-gamma axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes. Eur J Immunol (2004) 1.83
Tuberculosis in children and adults: two distinct genetic diseases. J Exp Med (2005) 1.80
The human model: a genetic dissection of immunity to infection in natural conditions. Nat Rev Immunol (2004) 1.78
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. J Clin Invest (2005) 1.77
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. Nat Immunol (2011) 1.76
Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity. J Exp Med (2011) 1.71
Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am J Hum Genet (2001) 1.70
Tuberculin skin test and in vitro assays provide complementary measures of antimycobacterial immunity in children and adolescents. Chest (2009) 1.68
Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines? Curr Opin Immunol (2010) 1.66
Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases. Curr Opin Immunol (2008) 1.62
A partial form of recessive STAT1 deficiency in humans. J Clin Invest (2009) 1.59
Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science (2013) 1.57
Stepwise replication identifies a low-producing lymphotoxin-alpha allele as a major risk factor for early-onset leprosy. Nat Genet (2007) 1.56
Inborn errors of immunity to infection: the rule rather than the exception. J Exp Med (2005) 1.56
Revisiting Crohn's disease as a primary immunodeficiency of macrophages. J Exp Med (2009) 1.54
Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes. Curr Opin Immunol (2012) 1.51
An autosomal dominant major gene confers predisposition to pulmonary tuberculosis in adults. J Exp Med (2006) 1.48
Human Toll-like receptor-dependent induction of interferons in protective immunity to viruses. Immunol Rev (2007) 1.47
Immunological and genetic evidence for a crucial role of IL-10 in cutaneous lesions in humans infected with Leishmania braziliensis. J Immunol (2008) 1.46
Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr Opin Allergy Clin Immunol (2012) 1.43
Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases. Ann N Y Acad Sci (2011) 1.43
Two loci control tuberculin skin test reactivity in an area hyperendemic for tuberculosis. J Exp Med (2009) 1.38
Primary immunodeficiency diseases worldwide: more common than generally thought. J Clin Immunol (2012) 1.36
Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency. J Clin Invest (2012) 1.35
Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood. J Exp Med (2012) 1.35
An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. Immunity (2013) 1.35
The interplay between environmental and host factors during an outbreak of visceral leishmaniasis in eastern Sudan. Microbes Infect (2002) 1.34
Human genetics of infectious diseases: a unified theory. EMBO J (2007) 1.32
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nat Genet (2008) 1.31
Chromosome 6q25 is linked to susceptibility to leprosy in a Vietnamese population. Nat Genet (2003) 1.30
Alleles of the NRAMP1 gene are risk factors for pediatric tuberculosis disease. Proc Natl Acad Sci U S A (2005) 1.30
Inherited and acquired immunodeficiencies underlying tuberculosis in childhood. Immunol Rev (2015) 1.29
Genetic susceptibility to herpes simplex virus 1 encephalitis in mice and humans. Curr Opin Allergy Clin Immunol (2007) 1.26
Human primary immunodeficiencies of type I interferons. Biochimie (2007) 1.23
TLR3 immunity to infection in mice and humans. Curr Opin Immunol (2013) 1.22
Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds. Medicine (Baltimore) (2013) 1.22
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
Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood. J Pediatr (2010) 1.21
High heritability of antimycobacterial immunity in an area of hyperendemicity for tuberculosis disease. J Infect Dis (2010) 1.21
IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey. PLoS One (2011) 1.20
Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases. J Pediatr (2010) 1.17
The genetic theory of infectious diseases: a brief history and selected illustrations. Annu Rev Genomics Hum Genet (2013) 1.17
Age is an important risk factor for onset and sequelae of reversal reactions in Vietnamese patients with leprosy. Clin Infect Dis (2006) 1.16
A role for interleukin-12/23 in the maturation of human natural killer and CD56+ T cells in vivo. Blood (2008) 1.16
A major susceptibility locus on chromosome 22q12 plays a critical role in the control of kala-azar. Am J Hum Genet (2003) 1.14
Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood. J Exp Med (2013) 1.14
Genetic dissection of immunity in leprosy. Curr Opin Immunol (2005) 1.13
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
Human Mannose-binding Lectin in Immunity: Friend, Foe, or Both? J Exp Med (2004) 1.12
A novel form of human STAT1 deficiency impairing early but not late responses to interferons. Blood (2010) 1.11
The human gene connectome as a map of short cuts for morbid allele discovery. Proc Natl Acad Sci U S A (2013) 1.10
Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds. Hum Mol Genet (2011) 1.10
Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients. Blood (2011) 1.09
Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection. Gastroenterology (2012) 1.09
Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles. Hum Mol Genet (2006) 1.09
Association of killer cell immunoglobulin-like receptor genes with Hodgkin's lymphoma in a familial study. PLoS One (2007) 1.09
Primary immunodeficiencies of protective immunity to primary infections. Clin Immunol (2010) 1.08
Leprosy as a genetic model for susceptibility to common infectious diseases. Hum Genet (2008) 1.08
Mendelian traits that confer predisposition or resistance to specific infections in humans. Curr Opin Immunol (2006) 1.08