Published in Nat Genet on April 01, 1999
Paediatric tuberculosis. Lancet Infect Dis (2008) 3.97
Reprogramming of the macrophage transcriptome in response to interferon-gamma and Mycobacterium tuberculosis: signaling roles of nitric oxide synthase-2 and phagocyte oxidase. J Exp Med (2001) 3.75
Vitamin D is required for IFN-gamma-mediated antimicrobial activity of human macrophages. Sci Transl Med (2011) 3.27
Genetic control of resistance to experimental infection with virulent Mycobacterium tuberculosis. Proc Natl Acad Sci U S A (2000) 2.63
Divergent effect of bacillus Calmette-Guérin (BCG) vaccination on Mycobacterium tuberculosis infection in highly related macaque species: implications for primate models in tuberculosis vaccine research. Proc Natl Acad Sci U S A (2001) 2.21
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
Functional capacity of Mycobacterium tuberculosis-specific T cell responses in humans is associated with mycobacterial load. J Immunol (2011) 2.07
Acquired predisposition to mycobacterial disease due to autoantibodies to IFN-gamma. J Clin Invest (2005) 2.06
Mycobacterium tuberculosis in chemokine receptor 2-deficient mice: influence of dose on disease progression. Infect Immun (2002) 1.89
Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity. Semin Immunol (2014) 1.81
Inteferons pen the JAK-STAT pathway. Semin Cell Dev Biol (2008) 1.79
Prolonged toll-like receptor signaling by Mycobacterium tuberculosis and its 19-kilodalton lipoprotein inhibits gamma interferon-induced regulation of selected genes in macrophages. Infect Immun (2004) 1.75
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. PLoS Genet (2006) 1.74
Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am J Hum Genet (2001) 1.70
How diverse--CD4 effector T cells and their functions. J Mol Cell Biol (2009) 1.44
Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases. Ann N Y Acad Sci (2011) 1.43
Human genetics of infectious diseases: a unified theory. EMBO J (2007) 1.32
Inherited and acquired immunodeficiencies underlying tuberculosis in childhood. Immunol Rev (2015) 1.29
In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. J Clin Invest (2000) 1.24
Murine gammaherpesvirus-68 infection causes multi-organ fibrosis and alters leukocyte trafficking in interferon-gamma receptor knockout mice. Am J Pathol (2001) 1.23
Interleukin-12 and interleukin-27 regulate macrophage control of Mycobacterium tuberculosis. J Infect Dis (2008) 1.23
IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey. PLoS One (2011) 1.20
Osteopontin expression correlates with clinical outcome in patients with mycobacterial infection. Am J Pathol (2000) 1.18
Clinical consequences of defects in the IL-12-dependent interferon-gamma (IFN-gamma) pathway. Clin Exp Immunol (2000) 1.16
Laboratory evaluation of primary immunodeficiencies. J Allergy Clin Immunol (2009) 1.10
Nonsense-mediated decay in genetic disease: friend or foe? Mutat Res Rev Mutat Res (2014) 1.10
Control of T helper cell differentiation through cytokine receptor inclusion in the immunological synapse. J Exp Med (2009) 1.08
Heterogeneity in the granulomatous response to mycobacterial infection in patients with defined genetic mutations in the interleukin 12-dependent interferon-gamma production pathway. Int J Exp Pathol (2002) 1.07
Susceptibility to tuberculosis: a locus on mouse chromosome 19 (Trl-4) regulates Mycobacterium tuberculosis replication in the lungs. Proc Natl Acad Sci U S A (2003) 1.07
Mycobacterium avium subsp. paratuberculosis inhibits gamma interferon-induced signaling in bovine monocytes: insights into the cellular mechanisms of Johne's disease. Infect Immun (2012) 1.05
CCAAT/enhancer-binding protein beta and delta binding to CIITA promoters is associated with the inhibition of CIITA expression in response to Mycobacterium tuberculosis 19-kDa lipoprotein. J Immunol (2007) 1.03
Cytokines involved in interferon-gamma production by human macrophages. J Innate Immun (2009) 1.03
Infections in patients with inherited defects in phagocytic function. Clin Microbiol Rev (2003) 1.02
Th1-Th2 polarisation and autophagy in the control of intracellular mycobacteria by macrophages. Vet Immunol Immunopathol (2008) 1.02
Differential requirement for interferon-gamma to restrict the growth of or eliminate some recently identified species of nontuberculous mycobacteria in vivo. Clin Exp Immunol (2001) 0.98
HIV-1 and the immune response to TB. Future Virol (2013) 0.97
Autophagy in the fight against tuberculosis. DNA Cell Biol (2015) 0.97
Human gene copy number variation and infectious disease. Hum Genet (2014) 0.97
Science, medicine, and the future: susceptibility to infection. BMJ (2000) 0.96
Naturally activated V gamma 4 gamma delta T cells play a protective role in tumor immunity through expression of eomesodermin. J Immunol (2010) 0.95
Functional analysis of a promoter variant of the gene encoding the interferon-gamma receptor chain I. Immunogenetics (2002) 0.94
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease. Hum Mutat (2012) 0.93
Innate Immune Defenses in Human Tuberculosis: An Overview of the Interactions between Mycobacterium tuberculosis and Innate Immune Cells. J Immunol Res (2015) 0.92
Interleukin-12 primes CD4+ T cells for interferon-gamma production and protective immunity during Mycobacterium avium infection. Immunology (2001) 0.92
Multifunctional CD4 T cell responses in patients with active tuberculosis. Sci Rep (2012) 0.91
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
Missense mutations of the interleukin-12 receptor beta 1(IL12RB1) and interferon-gamma receptor 1 (IFNGR1) genes are not associated with susceptibility to lepromatous leprosy in Korea. Immunogenetics (2003) 0.89
Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases. Int J Infect Dis (2011) 0.89
Endotoxin augmented antigen-induced Th1 cell trafficking amplifies airway neutrophilic inflammation. J Immunol (2009) 0.89
A small deletion hotspot in the type II keratin gene mK6irs1/Krt2-6g on mouse chromosome 15, a candidate for causing the wavy hair of the caracul (Ca) mutation. Genetics (2003) 0.89
Two patients with complete defects in interferon gamma receptor-dependent signaling. J Clin Immunol (2007) 0.88
Janus kinases and signal transducers and activators of transcription: their roles in cytokine signaling, development and immunoregulation. Arthritis Res (1999) 0.87
In vitro cellular immune responses to recombinant antigens of Mycobacterium avium subsp. paratuberculosis. Infect Immun (2005) 0.87
Chinese patients with defective IL-12/23-interferon-gamma circuit in Taiwan: partial dominant interferon-gamma receptor 1 mutation presenting as cutaneous granuloma and IL-12 receptor beta1 mutation as pneumatocele. J Clin Immunol (2008) 0.87
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease. Hum Mol Genet (2012) 0.87
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) 0.86
Adjunctive treatment of disseminated Mycobacterium avium complex infection with interferon alpha-2b in a patient with complete interferon-gamma receptor R1 deficiency. Eur J Pediatr (2006) 0.85
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
Mediating immunity to mycobacteria. Nat Genet (1999) 0.84
Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation. Blood (2013) 0.83
Intact IFN-γR1 expression and function distinguishes Langerhans cell histiocytosis from mendelian susceptibility to mycobacterial disease. J Clin Immunol (2013) 0.82
Interferon γ and Tumor Necrosis Factor Are Not Essential Parameters of CD4+ T-Cell Responses for Vaccine Control of Tuberculosis. J Infect Dis (2015) 0.81
Influenza virus vaccination induces interleukin-12/23 receptor beta 1 (IL-12/23R beta 1)-independent production of gamma interferon (IFN-gamma) and humoral immunity in patients with genetic deficiencies in IL-12/23R beta 1 or IFN-gamma receptor I. Clin Vaccine Immunol (2008) 0.81
Innate defects of the IL-12/IFN-γ axis in susceptibility to infections by mycobacteria and salmonella. J Interferon Cytokine Res (2013) 0.81
Is interleukin-4delta3 splice variant expression in bovine tuberculosis a marker of protective immunity? Infect Immun (2007) 0.81
Interferon alpha induced intrahepatic pSTAT1 inversely correlate with serum HCV RNA levels in chronic HCV infection. Exp Mol Pathol (2013) 0.81
Mycobacterial escape from macrophage phagosomes to the cytoplasm represents an alternate adaptation mechanism. Sci Rep (2016) 0.80
Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot. J Clin Immunol (2008) 0.80
Gamma interferon is dispensable for neopterin production in vivo. Clin Diagn Lab Immunol (2005) 0.79
Association of Genetic Polymorphisms of IFNGR1 with the Risk of Pulmonary Tuberculosis in Zahedan, Southeast Iran. Tuberc Res Treat (2015) 0.78
Clinical and host genetic characteristics of Mendelian susceptibility to mycobacterial diseases in Japan. J Clin Immunol (2011) 0.78
T Cell Activation and Proinflammatory Cytokine Production in Clinically Cured Tuberculosis Are Time-Dependent and Accompanied by Upregulation of IL-10. PLoS One (2013) 0.78
Mucosal delivery switches the response to an adjuvanted tuberculosis vaccine from systemic TH1 to tissue-resident TH17 responses without impacting the protective efficacy. Vaccine (2015) 0.77
A novel internalization motif regulates human IFN-γ R1 endocytosis. J Leukoc Biol (2012) 0.77
Hepatoportal venopathy due to disseminated Mycobacterium avium complex infection in a child with IFN-gamma receptor 2 deficiency. Virchows Arch (2007) 0.77
Clinical and immunologic features of an atypical intracranial mycobacterium avium complex (MAC) infection compared with those of pulmonary MAC infections. Clin Vaccine Immunol (2008) 0.77
The impact of IFN-γ receptor on SLPI expression in active tuberculosis: association with disease severity. Am J Pathol (2014) 0.77
The impact of ISGylation during Mycobacterium tuberculosis infection in mice. Microbes Infect (2017) 0.75
Multifocal Recurrent Osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with Partial Dominant IFN-γR1 Deficiency: Case Report and Review of the Literature. Front Pediatr (2017) 0.75
Pott's disease in Moroccan children: clinical features and investigation of the interleukin-12/interferon-γ pathway. Int J Tuberc Lung Dis (2015) 0.75
Clinical and laboratory observation of Bacillus Calmette-Guérin infections. Int J Clin Exp Med (2015) 0.75
Differential response to interferon-gamma therapy in a family with dominant negative partial interferon-gamma receptor1 deficiency. Eur J Pediatr (2005) 0.75
Cellular and Molecular Defects Underlying Invasive Fungal Infections-Revelations from Endemic Mycoses. Front Immunol (2017) 0.75
How cells respond to interferons. Annu Rev Biochem (1998) 24.27
LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science (2003) 19.77
Bcl-2 is an inner mitochondrial membrane protein that blocks programmed cell death. Nature (1990) 14.46
DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1. Science (1996) 11.13
IFNgamma and lymphocytes prevent primary tumour development and shape tumour immunogenicity. Nature (2001) 11.03
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat Genet (2001) 10.92
Targeted disruption of the Stat1 gene in mice reveals unexpected physiologic specificity in the JAK-STAT signaling pathway. Cell (1996) 10.49
Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science (2000) 10.40
HIV evolution: CTL escape mutation and reversion after transmission. Nat Med (2004) 10.21
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell (2000) 9.99
The Scottish Record Linkage System. Health Bull (Edinb) (1993) 8.06
Interferon-gamma: the major mediator of resistance against Toxoplasma gondii. Science (1988) 7.96
Human complement C3b inactivator: isolation, characterization, and demonstration of an absolute requirement for the serum protein beta1H for cleavage of C3b and C4b in solution. J Exp Med (1977) 7.89
Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med (2011) 7.89
Mechanical and chemical unfolding of a single protein: a comparison. Proc Natl Acad Sci U S A (1999) 7.74
Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) (2000) 7.17
Requirement of endogenous interferon-gamma production for resolution of Listeria monocytogenes infection. Proc Natl Acad Sci U S A (1985) 7.15
Demonstration of an interferon gamma-dependent tumor surveillance system in immunocompetent mice. Proc Natl Acad Sci U S A (1998) 6.82
Anti-Mac-1 selectively inhibits the mouse and human type three complement receptor. J Exp Med (1982) 6.56
The molecular cell biology of interferon-gamma and its receptor. Annu Rev Immunol (1993) 5.88
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. N Engl J Med (1999) 5.82
Generation and characterization of hamster monoclonal antibodies that neutralize murine tumor necrosis factors. J Immunol (1989) 5.39
Association of macrophage infiltration with angiogenesis and prognosis in invasive breast carcinoma. Cancer Res (1996) 5.38
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection. N Engl J Med (1996) 5.36
Effects of sampling standardization on estimates of Phanerozoic marine diversification. Proc Natl Acad Sci U S A (2001) 5.27
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet (2000) 5.11
Lymphoid development in mice with a targeted deletion of the interleukin 2 receptor gamma chain. Proc Natl Acad Sci U S A (1995) 5.06
Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science (1999) 4.93
Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science (1995) 4.80
Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell (2001) 4.79
The IFN gamma receptor: a paradigm for cytokine receptor signaling. Annu Rev Immunol (1997) 4.76
Tumor necrosis factor is involved in the T cell-independent pathway of macrophage activation in scid mice. J Immunol (1989) 4.70
Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science (1998) 4.58
Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore) (2000) 4.45
Monoclonal antibodies to murine gamma-interferon which differentially modulate macrophage activation and antiviral activity. J Immunol (1985) 4.44
North of England evidence based guidelines development project: guideline for the primary care management of dementia. BMJ (1998) 4.39
The SV40 enhancer is composed of multiple functional elements that can compensate for one another. Cell (1986) 4.25
The p47phox mouse knock-out model of chronic granulomatous disease. J Exp Med (1995) 4.25
Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. Science (1998) 4.24
Regulation of gamma interferon production by natural killer cells in scid mice: roles of tumor necrosis factor and bacterial stimuli. Infect Immun (1991) 4.18
CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. Nature (1993) 4.11
Evidence for a gamma-interferon receptor that regulates macrophage tumoricidal activity. J Exp Med (1984) 4.00
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet (2001) 3.86
Rapid induction of the expression of proto-oncogene fos during human monocytic differentiation. Cell (1985) 3.81
Purification of a new neurotrophic factor from mammalian brain. EMBO J (1982) 3.68
Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr (1997) 3.63
Transcriptionally active Stat1 is required for the antiproliferative effects of both interferon alpha and interferon gamma. Proc Natl Acad Sci U S A (1996) 3.62
A T cell-independent mechanism of macrophage activation by interferon-gamma. J Immunol (1987) 3.55
CD40-CD40L independent Ig gene hypermutation suggests a second B cell diversification pathway in humans. Proc Natl Acad Sci U S A (2001) 3.54
Directional guidance of neuronal migration in the olfactory system by the protein Slit. Nature (1999) 3.51
Natural immunity: a T-cell-independent pathway of macrophage activation, defined in the scid mouse. Immunol Rev (1991) 3.49
Deficiency of an erythrocyte membrane protein with complement regulatory activity in paroxysmal nocturnal hemoglobinuria. Proc Natl Acad Sci U S A (1983) 3.47
Molecular biology and chemistry of the alternative pathway of complement. Adv Immunol (1980) 3.41
The heparin-binding domain of laminin is responsible for its effects on neurite outgrowth and neuronal survival. EMBO J (1984) 3.39
Interleukin 12 signaling in T helper type 1 (Th1) cells involves tyrosine phosphorylation of signal transducer and activator of transcription (Stat)3 and Stat4. J Exp Med (1995) 3.37
Cytotoxic T lymphocytes inhibit hepatitis B virus gene expression by a noncytolytic mechanism in transgenic mice. Proc Natl Acad Sci U S A (1994) 3.34
Decreased sensitivity to tumour-necrosis factor but normal T-cell development in TNF receptor-2-deficient mice. Nature (1994) 3.34
Allelotype of pancreatic adenocarcinoma using xenograft enrichment. Cancer Res (1995) 3.33
Disruption of the Jak1 gene demonstrates obligatory and nonredundant roles of the Jaks in cytokine-induced biologic responses. Cell (1998) 3.25
Enhanced in vivo growth and resistance to rejection of tumor cells expressing dominant negative IFN gamma receptors. Immunity (1994) 3.24
Selective IgG subclass deficiency: quantification and clinical relevance. Clin Exp Immunol (1990) 3.20
Properdin- and nephritic factor-dependent C3 convertases: requirement of native C3 for enzyme formation and the function of bound C3b as properdin receptor. J Exp Med (1975) 3.12
Defective lymphotoxin-beta receptor-induced NF-kappaB transcriptional activity in NIK-deficient mice. Science (2001) 3.11
Trends in hospital necropsy rates: Scotland 1961-74. Br Med J (1977) 3.09
Gamma interferon limits access of Listeria monocytogenes to the macrophage cytoplasm. J Exp Med (1989) 3.08
In vivo modulation of the murine immune response to Francisella tularensis LVS by administration of anticytokine antibodies. Infect Immun (1992) 3.07
Mechanisms of class I restricted immunopathology. A transgenic mouse model of fulminant hepatitis. J Exp Med (1993) 3.06
Atomic force microscopy reveals the mechanical design of a modular protein. Proc Natl Acad Sci U S A (2000) 3.04
p47phox is required for atherosclerotic lesion progression in ApoE(-/-) mice. J Clin Invest (2001) 3.02
Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet (1989) 2.98
The diagnosis and management of chronic cough. Eur Respir J (2004) 2.96
Fourth component of human complement: description of a three polypeptide chain structure. J Exp Med (1974) 2.93
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nat Genet (1997) 2.93
The calcium current activated by T cell receptor and store depletion in human lymphocytes is absent in a primary immunodeficiency. J Biol Chem (1994) 2.92
Oxidative DNA damage and senescence of human diploid fibroblast cells. Proc Natl Acad Sci U S A (1995) 2.89
Formation of the initial C3 convertase of the alternative complement pathway. Acquisition of C3b-like activities by spontaneous hydrolysis of the putative thioester in native C3. J Exp Med (1981) 2.88
A study of cells present in peripheral lymph of pigs with special reference to a type of cell resembling the Langerhans cell. Cell Tissue Res (1979) 2.85
Expression cloning of a protective Leishmania antigen. Science (1995) 2.83
Ligand-induced IFN gamma receptor tyrosine phosphorylation couples the receptor to its signal transduction system (p91). EMBO J (1994) 2.82
Eradication of established tumors by CD8+ T cell adoptive immunotherapy. Immunity (2000) 2.81
Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis. J Clin Invest (1997) 2.76
Treatment of chronic granulomatous disease with nonmyeloablative conditioning and a T-cell-depleted hematopoietic allograft. N Engl J Med (2001) 2.75