Human TLRs and IL-1Rs in Host Defense: Natural Insights from Evolutionary, Epidemiological, and Clinical Genetics

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

(2011) Jacinta Bustamante et al.   NATURE IMMUNOLOGY

Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency

(2010) Alexandre Bolze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?

(2010) Alexandre Alcaïs et al.   Annals of the New York Academy of Sciences

National Institutes of Health Center for Human Immunology Conference, September 2009

(2010) Robert B. Nussenblatt et al.   Annals of the New York Academy of Sciences

Toll-like receptor 2 gene polymorphisms, pulmonary tuberculosis, and natural killer cell counts

(2010) Yung-Che Chen et al.   BMC Medical Genetics

Polymorphisms in IL-1β, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis

(2010) Alison A Motsinger-Reif et al.   BMC Medical Genetics

The Inflammasomes

(2010) Kate Schroder et al.   CELL

Monogenic IL-1 mediated autoinflammatory and immunodeficiency syndromes: Finding the right balance in response to danger signals

(2010) Cailin Henderson et al.   CLINICAL IMMUNOLOGY

Primary immunodeficiencies of protective immunity to primary infections

(2010) Aziz Bousfiha et al.   CLINICAL IMMUNOLOGY

Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines?

(2010) Anne Puel et al.   CURRENT OPINION IN IMMUNOLOGY

IL-1: Discoveries, controversies and future directions

(2010) Charles A. Dinarello   EUROPEAN JOURNAL OF IMMUNOLOGY

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

(2010) J. Rios et al.   HUMAN MOLECULAR GENETICS

Human TRAF3 Adaptor Molecule Deficiency Leads to Impaired Toll-like Receptor 3 Response and Susceptibility to Herpes Simplex Encephalitis

(2010) Rebeca Pérez de Diego et al.   IMMUNITY

The Receptor SIGIRR Suppresses Th17 Cell Proliferation via Inhibition of the Interleukin-1 Receptor Pathway and mTOR Kinase Activation

(2010) Muhammet F. Gulen et al.   IMMUNITY

Immune deficiency caused by impaired expression of nuclear factor-κB essential modifier (NEMO) because of a mutation in the 5′ untranslated region of the NEMO gene

(2010) Jana L. Mooster et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Myeloid differentiation primary response gene 88 (MyD88) deficiency in a large kindred

(2010) Daniel H. Conway et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A Role for Toll-like Receptor 3 Variants in Host Susceptibility to Enteroviral Myocarditis and Dilated Cardiomyopathy

(2010) Carlos Gorbea et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

(2010) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Human TLRs 10 and 1 Share Common Mechanisms of Innate Immune Sensing but Not Signaling

(2010) Y. Guan et al.   JOURNAL OF IMMUNOLOGY

Cutting Edge: Caspase-1 Independent IL-1  Production Is Critical for Host Resistance to Mycobacterium tuberculosis and Does Not Require TLR Signaling In Vivo

(2010) K. D. Mayer-Barber et al.   JOURNAL OF IMMUNOLOGY

Age-Dependent Mendelian Predisposition to Herpes Simplex Virus Type 1 Encephalitis in Childhood

(2010) Laurent Abel et al.   JOURNAL OF PEDIATRICS

Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

(2010) Capucine Picard et al.   MEDICINE

Adaptation and Constraint at Toll-Like Receptors in Primates

(2010) G. Wlasiuk et al.   MOLECULAR BIOLOGY AND EVOLUTION

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

(2010) Kaya Bilgüvar et al.   NATURE

Helical assembly in the MyD88–IRAK4–IRAK2 complex in TLR/IL-1R signalling

(2010) Su-Chang Lin et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

(2010) Cheryl Shoubridge et al.   NATURE GENETICS

Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease

(2010) Sonia Davila et al.   NATURE GENETICS

Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2

(2010) Thorsten Thye et al.   NATURE GENETICS

The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88

(2010) Bing He et al.   NATURE IMMUNOLOGY

Complement: a key system for immune surveillance and homeostasis

(2010) Daniel Ricklin et al.   NATURE IMMUNOLOGY

The role of pattern-recognition receptors in innate immunity: update on Toll-like receptors

(2010) Taro Kawai et al.   NATURE IMMUNOLOGY

IL-1 pathways in inflammation and human diseases

(2010) Cem Gabay et al.   Nature Reviews Rheumatology

Genetic Influences on Incidence and Case-Fatality of Infectious Disease

(2010) Liselotte Petersen et al.   PLoS One

Toll-like receptor 8-mediated activation of murine plasmacytoid dendritic cells by vaccinia viral DNA

(2010) J. Martinez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IL-1β Processing in Host Defense: Beyond the Inflammasomes

(2010) Mihai G. Netea et al.   PLoS Pathogens

A frequent functional toll-like receptor 7 polymorphism is associated with accelerated HIV-1 disease progression

(2009) Djin-Ye Oh et al.   AIDS

A Genome-wide Survey of the Prevalence and Evolutionary Forces Acting on Human Nonsense SNPs

(2009) Bryndis Yngvadottir et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Primary B Cell Immunodeficiencies: Comparisons and Contrasts

(2009) Mary Ellen Conley et al.   Annual Review of Immunology

Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease

(2009) Seth L. Masters et al.   Annual Review of Immunology

The Inflammasomes: Guardians of the Body

(2009) Fabio Martinon et al.   Annual Review of Immunology

Immunological and Inflammatory Functions of the Interleukin-1 Family

(2009) Charles A. Dinarello   Annual Review of Immunology

Low frequency of the TIRAPS180L polymorphism in Africa, and its potential role in malaria, sepsis, and leprosy

(2009) Lutz Hamann et al.   BMC Medical Genetics

TLR2 and its co-receptors determine responses of macrophages and dendritic cells to lipoproteins of Mycobacterium tuberculosis

(2009) Michael G. Drage et al.   CELLULAR IMMUNOLOGY

Very Late‐Onset Group BStreptococcusMeningitis, Sepsis, and Systemic Shigellosis due to Interleukin‐1 Receptor–Associated Kinase‐4 Deficiency

(2009) Jens C. Krause et al.   CLINICAL INFECTIOUS DISEASES

Genetic control of resistance to human malaria

(2009) Anthony C Allison   CURRENT OPINION IN IMMUNOLOGY

Primary immunodeficiencies: increasing market share

(2009) Luigi D Notarangelo et al.   CURRENT OPINION IN IMMUNOLOGY

Pattern recognition: recent insights from Dectin-1

(2009) Delyth M Reid et al.   CURRENT OPINION IN IMMUNOLOGY

TIR-containing adaptors in Toll-like receptor signalling

(2009) Kristie A. Jenkins et al.   CYTOKINE

Past, present and future directions in human genetic susceptibility to tuberculosis

(2009) Marlo Möller et al.   FEMS IMMUNOLOGY AND MEDICAL MICROBIOLOGY

Constructing genomic maps of positive selection in humans: Where do we go from here?

(2009) J. M. Akey   GENOME RESEARCH

Signals of recent positive selection in a worldwide sample of human populations

(2009) J. K. Pickrell et al.   GENOME RESEARCH

Variants in toll-like receptors 2 and 9 influence susceptibility to pulmonary tuberculosis in Caucasians, African-Americans, and West Africans

(2009) Digna Rosa Velez et al.   HUMAN GENETICS

Approaching the Asymptote: 20 Years Later

(2009) Ruslan Medzhitov   IMMUNITY

Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes

(2009) Perdita Permaul et al.   IMMUNOLOGIC RESEARCH

Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-α/β, IFN-γ, and IFN-λ in host defense

(2009) Shen-Ying Zhang et al.   IMMUNOLOGICAL REVIEWS

The interleukin-1 receptor/Toll-like receptor superfamily: 10 years of progress

(2009) Luke A. J. O'Neill   IMMUNOLOGICAL REVIEWS

Primary immunodeficiencies: 2009 update

(2009) Luigi D. Notarangelo et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Transcriptional Regulation of the Novel Toll-like ReceptorTlr13

(2009) Zhongcheng Shi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification of Loss of Function Mutations in Human Genes Encoding RIG-I and MDA5

(2009) Taeko Shigemoto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A partial form of recessive STAT1 deficiency in humans

(2009) Ariane Chapgier et al.   JOURNAL OF CLINICAL INVESTIGATION

Human genetics of infectious diseases: between proof of principle and paradigm

(2009) Alexandre Alcaïs et al.   JOURNAL OF CLINICAL INVESTIGATION

Helicobacter pyloriinfection, host genetics and gastric cancer

(2009) Anne-Marie SHANKS et al.   Journal of Digestive Diseases

Two loci control tuberculin skin test reactivity in an area hyperendemic for tuberculosis

(2009) Aurelie Cobat et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Revisiting Crohn's disease as a primary immunodeficiency of macrophages: Figure 1.

(2009) Jean-Laurent Casanova et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Animal Antimicrobial Peptides: Ancient Players in Innate Immunity

(2009) J. L. Strominger   JOURNAL OF IMMUNOLOGY

Genomewide Association Study of a Rapid Progression Cohort Identifies New Susceptibility Alleles for AIDS (ANRS Genomewide Association Study 03)

(2009) Sigrid Le Clerc et al.   JOURNAL OF INFECTIOUS DISEASES

Polymorphism N248S in the Human Toll‐Like Receptor 1 Gene Is Related to Leprosy and Leprosy Reactions

(2009) Ron P. Schuring et al.   JOURNAL OF INFECTIOUS DISEASES

A History of Recurrent Positive Selection at the Toll-Like Receptor 5 in Primates

(2009) Gabriela Wlasiuk et al.   MOLECULAR BIOLOGY AND EVOLUTION

Complement in human diseases: Lessons from complement deficiencies

(2009) Marina Botto et al.   MOLECULAR IMMUNOLOGY

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Dual nature of the adaptive immune system in lampreys

(2009) Peng Guo et al.   NATURE

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Genome-wide and fine-resolution association analysis of malaria in West Africa

(2009) Muminatou Jallow et al.   NATURE GENETICS

From evolutionary genetics to human immunology: how selection shapes host defence genes

(2009) Luis B. Barreiro et al.   NATURE REVIEWS GENETICS

Genetics and the understanding of selection

(2009) Laurence D. Hurst   NATURE REVIEWS GENETICS

An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist

(2009) Ivona Aksentijevich et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genomewide Association Study of Leprosy

(2009) Fu-Ren Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Human Dectin-1 Deficiency and Mucocutaneous Fungal Infections

(2009) Bart Ferwerda et al.   NEW ENGLAND JOURNAL OF MEDICINE

An Autoinflammatory Disease Due to Homozygous Deletion of theIL1RNLocus

(2009) Sreelatha Reddy et al.   NEW ENGLAND JOURNAL OF MEDICINE

Common Genetic Variation and Human Traits

(2009) David B. Goldstein   NEW ENGLAND JOURNAL OF MEDICINE

CD14 C-159T and Toll-Like Receptor 4 Asp299Gly Polymorphisms in Surviving Meningococcal Disease Patients

(2009) Ariane Biebl et al.   PLoS One

Study of Human RIG-I Polymorphisms Identifies Two Variants with an Opposite Impact on the Antiviral Immune Response

(2009) Julien Pothlichet et al.   PLoS One

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Positively Selected G6PD-Mahidol Mutation Reduces Plasmodium vivax Density in Southeast Asians

(2009) C. Louicharoen et al.   SCIENCE

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE

RIG-I-like receptors: Sensing and responding to RNA virus infection

(2009) Peyman Nakhaei et al.   SEMINARS IN IMMUNOLOGY

Interleukin-33 – cytokine of dual function or novel alarmin?

(2009) Guttorm Haraldsen et al.   TRENDS IN IMMUNOLOGY

TIR8/SIGIRR: an IL-1R/TLR family member with regulatory functions in inflammation and T cell polarization

(2009) Cecilia Garlanda et al.   TRENDS IN IMMUNOLOGY

Evolutionary Dynamics of Human Toll-Like Receptors and Their Different Contributions to Host Defense

(2009) Luis B. Barreiro et al.   PLoS Genetics

Sexual Inequality in Tuberculosis

(2009) Olivier Neyrolles et al.   PLOS MEDICINE

A toll-like receptor 4 variant is associated with fatal outcome in children with invasive meningococcal disease

(2008) Joerg Faber et al.   ACTA PAEDIATRICA

X-Linked Ectodermal Dysplasia With Immunodeficiency Caused by NEMO Mutation

(2008) Anthony J. Mancini et al.   ARCHIVES OF DERMATOLOGY

Toll-like receptor 2 variants are associated with acute reactive arthritis

(2008) Florence W. L. Tsui et al.   ARTHRITIS AND RHEUMATISM

TLRs and innate immunity

(2008) B. A. Beutler   BLOOD

Overexpression of Interleukin-1β Induces Gastric Inflammation and Cancer and Mobilizes Myeloid-Derived Suppressor Cells in Mice

(2008) Shuiping Tu et al.   CANCER CELL

Toll-like receptor polymorphisms and susceptibility to human disease

(2008) E. Ann Misch et al.   CLINICAL SCIENCE

Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases

(2008) Jacinta Bustamante et al.   CURRENT OPINION IN IMMUNOLOGY

MDA5/RIG-I and virus recognition

(2008) Osamu Takeuchi et al.   CURRENT OPINION IN IMMUNOLOGY

The involvement of the interleukin-1 receptor-associated kinases (IRAKs) in cellular signaling networks controlling inflammation

(2008) Lorna Ringwood et al.   CYTOKINE

The microbial and danger signals that activate Nod-like receptors

(2008) Szilvia Benko et al.   CYTOKINE

Signalling adaptors used by Toll-like receptors: An update

(2008) Elaine F. Kenny et al.   CYTOKINE

A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency

(2008) Eduardo Lopez-Granados et al.   HUMAN MUTATION

A Prescription for Human Immunology

(2008) Mark M. Davis   IMMUNITY

IL-1, IL-18, and IL-33 families of cytokines

(2008) William P. Arend et al.   IMMUNOLOGICAL REVIEWS

Viral sensors: diversity in pathogen recognition

(2008) Stephen A. McCartney et al.   IMMUNOLOGICAL REVIEWS

Conserved domains of the class A scavenger receptors: evolution and function

(2008) Dawn M. E. Bowdish et al.   IMMUNOLOGICAL REVIEWS

Toll-Like Receptors, Transduction-Effector Pathways, and Disease Diversity: Evidence of an Immunobiological Paradigm Explaining All Human Illness?

(2008) Timothy J. Atkinson   INTERNATIONAL REVIEWS OF IMMUNOLOGY

Influence of the Toll-Like Receptor 9 1635A/G Polymorphism on the CD4 Count, HIV Viral Load, and Clinical Progression

(2008) Natalia Soriano-Sarabia et al.   JAIDS-JOURNAL OF ACQUIRED IMMUNE DEFICIENCY SYNDROMES

IKBKG (nuclear factor-κB essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function

(2008) Bryn H. Salt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hypomorphic nuclear factor-κB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity

(2008) Eric P. Hanson et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Complementation of a pathogenicIFNGR2misfolding mutation with modifiers of N-glycosylation

(2008) Guillaume Vogt et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Polymorphisms in Toll‐Like Receptor Genes and Susceptibility to Pulmonary Aspergillosis

(2008) A. Carvalho et al.   JOURNAL OF INFECTIOUS DISEASES

Toll‐Like Receptor 2(TLR2)Polymorphisms Are Associated with Reversal Reaction in Leprosy

(2008) Pierre‐Yves Bochud et al.   JOURNAL OF INFECTIOUS DISEASES

A Functional Toll‐Like Receptor 8 Variant Is Associated with HIV Disease Restriction

(2008) D.‐Y. Oh et al.   JOURNAL OF INFECTIOUS DISEASES

Revisiting human primary immunodeficiencies

(2008) Jean-Laurent Casanova et al.   JOURNAL OF INTERNAL MEDICINE

Expression and distribution of Toll-like receptors 11–13 in the brain during murine neurocysticercosis

(2008) Bibhuti B Mishra et al.   Journal of Neuroinflammation

Innate immune recognition of the indigenous microbial flora

(2008) S Rakoff-Nahoum et al.   Mucosal Immunology

Personal genomes: The case of the missing heritability

(2008) Brendan Maher   NATURE

UNC93B1 delivers nucleotide-sensing toll-like receptors to endolysosomes

(2008) You-Me Kim et al.   NATURE

Natural selection has driven population differentiation in modern humans

(2008) Luis B Barreiro et al.   NATURE GENETICS

Analysis of association of the TIRAP (MAL) S180L variant and tuberculosis in three populations

(2008) Sergey Nejentsev et al.   NATURE GENETICS

The habitual, diverse and surmountable obstacles to human immunology research

(2008) Adrian C Hayday et al.   NATURE IMMUNOLOGY

Toll-like receptors — taking an evolutionary approach

(2008) François Leulier et al.   NATURE REVIEWS GENETICS

TLRPolymorphisms and the Risk of Invasive Fungal Infections

(2008) Eric G. Pamer   NEW ENGLAND JOURNAL OF MEDICINE

Toll-like Receptor 4 Polymorphisms and Aspergillosis in Stem-Cell Transplantation

(2008) Pierre-Yves Bochud et al.   NEW ENGLAND JOURNAL OF MEDICINE

Distinct Genetic Loci Control Plasma HIV-RNA and Cellular HIV-DNA Levels in HIV-1 Infection: The ANRS Genome Wide Association 01 Study

(2008) Cyril Dalmasso et al.   PLoS One

Pyogenic Bacterial Infections in Humans with MyD88 Deficiency

(2008) H. von Bernuth et al.   SCIENCE

Genetic Association and Expression Studies Indicate a Role of Toll-Like Receptor 8 in Pulmonary Tuberculosis

(2008) Sonia Davila et al.   PLoS Genetics

Human TLR1 Deficiency Is Associated with Impaired Mycobacterial Signaling and Protection from Leprosy Reversal Reaction

(2008) Elizabeth A. Misch et al.   PLoS Neglected Tropical Diseases

The Influence of Host and Bacterial Genotype on the Development of Disseminated Disease with Mycobacterium tuberculosis

(2008) Maxine Caws et al.   PLoS Pathogens