Published in J Immunol on April 15, 2006
Pyogenic bacterial infections in humans with MyD88 deficiency. Science (2008) 4.92
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med (2011) 3.63
Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. Immunity (2010) 2.47
B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans. J Exp Med (2010) 2.42
Whole-exome-sequencing-based discovery of human FADD deficiency. Am J Hum Genet (2010) 2.17
Inborn errors of human JAKs and STATs. Immunity (2012) 1.90
Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. J Clin Invest (2011) 1.88
Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity. Semin Immunol (2014) 1.81
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. PLoS Genet (2006) 1.74
Induced pluripotent stem cells: a novel frontier in the study of human primary immunodeficiencies. J Allergy Clin Immunol (2010) 1.65
A partial form of recessive STAT1 deficiency in humans. J Clin Invest (2009) 1.59
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. J Allergy Clin Immunol (2013) 1.52
Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes. Curr Opin Immunol (2012) 1.51
Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases. Ann N Y Acad Sci (2011) 1.43
Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood. J Exp Med (2012) 1.35
Evolutionary genetic dissection of human interferons. J Exp Med (2011) 1.32
Inborn errors of anti-viral interferon immunity in humans. Curr Opin Virol (2011) 1.31
Inherited and acquired immunodeficiencies underlying tuberculosis in childhood. Immunol Rev (2015) 1.29
STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. PLoS One (2011) 1.22
A mouse model of lethal infection for evaluating prophylactics and therapeutics against Monkeypox virus. J Virol (2010) 1.12
A novel form of human STAT1 deficiency impairing early but not late responses to interferons. Blood (2010) 1.11
Preclinical evaluation of a replication-deficient intranasal DeltaNS1 H5N1 influenza vaccine. PLoS One (2009) 1.04
Simvastatin prevents and reverses depigmentation in a mouse model of vitiligo. J Invest Dermatol (2014) 1.03
Parsing the Interferon Transcriptional Network and Its Disease Associations. Cell (2016) 1.01
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genet Med (2016) 1.01
A novel STAT1 mutation associated with disseminated mycobacterial disease. J Clin Immunol (2012) 0.98
Novel STAT1 alleles in a patient with impaired resistance to mycobacteria. J Clin Immunol (2010) 0.96
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease. Hum Mutat (2012) 0.93
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. J Exp Med (2015) 0.92
Changing partners at the dance: Variations in STAT concentrations for shaping cytokine function and immune responses to viral infections. JAKSTAT (2013) 0.92
TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk. Neurology (2014) 0.90
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
Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis. Haematologica (2013) 0.87
The tiers and dimensions of evasion of the type I interferon response by human cytomegalovirus. J Mol Biol (2013) 0.87
Natural killer cells in immunodefense against infective agents. Expert Rev Anti Infect Ther (2008) 0.86
Enterohemorrhagic Escherichia coli O157:H7 Shiga toxins inhibit gamma interferon-mediated cellular activation. Infect Immun (2012) 0.86
Adaptive immunity to murine skin commensals. Proc Natl Acad Sci U S A (2014) 0.86
Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. J Leukoc Biol (2013) 0.85
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
A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections. Semin Immunopathol (2016) 0.81
Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies. Clin Mol Allergy (2011) 0.81
Evidence for postinitiation regulation of mRNA biogenesis in tuberculosis. J Immunol (2013) 0.79
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency. J Exp Med (2017) 0.78
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
Identifying mechanisms by which Escherichia coli O157:H7 subverts interferon-γ mediated signal transducer and activator of transcription-1 activation. PLoS One (2012) 0.77
Cellular and Molecular Defects Underlying Invasive Fungal Infections-Revelations from Endemic Mycoses. Front Immunol (2017) 0.75
Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis. J Am Coll Cardiol (2017) 0.75
Global Screening of Antiviral Genes that Suppress Baculovirus Transgene Expression in Mammalian Cells. Mol Ther Methods Clin Dev (2017) 0.75
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
Human CD14dim monocytes patrol and sense nucleic acids and viruses via TLR7 and TLR8 receptors. Immunity (2010) 5.43
Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire. Blood (2004) 5.10
Pyogenic bacterial infections in humans with MyD88 deficiency. Science (2008) 4.92
Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science (2003) 4.80
The Jak-STAT signaling pathway is required but not sufficient for the antiviral response of drosophila. Nat Immunol (2005) 4.49
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
Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat Genet (2003) 3.95
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol (2009) 3.70
B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen. Nat Immunol (2011) 3.66
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med (2011) 3.63
Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. Semin Immunol (2006) 3.41
IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med (2011) 3.29
Study of telomere length reveals rapid aging of human marrow stromal cells following in vitro expansion. Stem Cells (2004) 3.15
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol (2011) 3.05
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol (2007) 2.98
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med (2011) 2.93
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet (2004) 2.90
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet (2012) 2.86
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
The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88. Nat Immunol (2010) 2.55
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52
Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. Immunity (2010) 2.47
B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans. J Exp Med (2010) 2.42
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat Immunol (2012) 2.38
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
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. Medicine (Baltimore) (2010) 2.26
Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N Engl J Med (2004) 2.25
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
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) 2.16
Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity. Clin Infect Dis (2003) 2.14
Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency. Clin Microbiol Rev (2011) 2.08
Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency. Science (2012) 2.06
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. J Allergy Clin Immunol (2008) 2.05
Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. Blood (2009) 2.03
Hemophagocytosis by leukemic megakaryoblasts in acute myeloid leukemia (megakaryoblastic) with t(1;22)(p13;q13);RBM15-MKL1. J Pediatr Hematol Oncol (2012) 2.00
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
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest (2003) 1.92
Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics (2003) 1.91
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
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet (2011) 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
IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans. Immunity (2008) 1.83
Tuberculosis in children and adults: two distinct genetic diseases. J Exp Med (2005) 1.80
DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice. J Exp Med (2011) 1.79
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
Impaired Epstein-Barr virus-specific CD8+ T-cell function in X-linked lymphoproliferative disease is restricted to SLAM family-positive B-cell targets. Blood (2010) 1.75
A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency. Blood (2013) 1.74
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. PLoS Genet (2006) 1.74