Published in Mol Ther on June 01, 2004
Interleukin-12 and tuberculosis: an old story revisited. Curr Opin Immunol (2007) 1.29
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
Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med (2014) 4.70
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
Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood (2008) 3.44
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
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
Actionable diagnosis of neuroleptospirosis by next-generation sequencing. N Engl J Med (2014) 2.71
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med (2010) 2.70
T-helper 17 cells expand in multiple sclerosis and are inhibited by interferon-beta. Ann Neurol (2009) 2.65
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
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
Engraftment potential of human amnion and chorion cells derived from term placenta. Transplantation (2004) 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
Late-onset combined immune deficiency: a subset of common variable immunodeficiency with severe T cell defect. Clin Infect Dis (2009) 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
Infections in 252 patients with common variable immunodeficiency. Clin Infect Dis (2008) 1.93
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
Circulating autoantibodies to phosphorylated α-enolase are a hallmark of pancreatic cancer. J Proteome Res (2010) 1.81
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
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. PLoS Genet (2006) 1.74
A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency. Blood (2013) 1.74
Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans. J Infect Dis (2004) 1.71
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
How I treat ADA deficiency. Blood (2009) 1.70
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 (2006) 1.69
Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines? Curr Opin Immunol (2010) 1.66
IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients. Blood (2012) 1.65
Induced pluripotent stem cells: a novel frontier in the study of human primary immunodeficiencies. J Allergy Clin Immunol (2010) 1.65
Functional STAT3 deficiency compromises the generation of human T follicular helper cells. Blood (2012) 1.62
Ups and downs: the STAT1:STAT3 seesaw of Interferon and gp130 receptor signalling. Semin Cell Dev Biol (2008) 1.62
Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases. Curr Opin Immunol (2008) 1.62
α-Enolase: a promising therapeutic and diagnostic tumor target. FEBS J (2011) 1.60
A partial form of recessive STAT1 deficiency in humans. J Clin Invest (2009) 1.59
Induction of MxA gene expression by influenza A virus requires type I or type III interferon signaling. J Virol (2007) 1.58
Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science (2013) 1.57
Gene therapy: X-SCID transgene leukaemogenicity. Nature (2006) 1.57
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
From idiopathic infectious diseases to novel primary immunodeficiencies. J Allergy Clin Immunol (2005) 1.54