Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

(2021) Franck Rapaport et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PD-1 blockade exacerbates Mycobacterium tuberculosis infection in rhesus macaques

(2021) Keith D. Kauffman et al.   Science Immunology

Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years

(2021) Gaspard Kerner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The monogenic basis of human tuberculosis

(2020) Stephanie Boisson-Dupuis   HUMAN GENETICS

TooManyCells identifies and visualizes relationships of single-cell clades

(2020) Gregory W. Schwartz et al.   NATURE METHODS

Inherited human IFN-γ deficiency underlies mycobacterial disease

(2020) Gaspard Kerner et al.   JOURNAL OF CLINICAL INVESTIGATION

Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria

(2020) Rui Yang et al.   CELL

Double-negative T cells in autoimmune diseases

(2020) Hao Li et al.   CURRENT OPINION IN RHEUMATOLOGY

muscat detects subpopulation-specific state transitions from multi-sample multi-condition single-cell transcriptomics data

(2020) Helena L. Crowell et al.   Nature Communications

New therapeutic perspectives to manage refractory immune checkpoint-related toxicities

(2019) Filipe Martins et al.   LANCET ONCOLOGY

Clinical aspects of STAT3 gain-of-function germline mutations: A Systematic Review

(2019) Alexandre Fabre et al.   Journal of Allergy and Clinical Immunology-In Practice

Negative Co-stimulation Constrains T Cell Differentiation by Imposing Boundaries on Possible Cell States

(2019) Spencer C. Wei et al.   IMMUNITY

Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry

(2019) Gaspard Kerner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sustained Type I interferon signaling as a mechanism of resistance to PD-1 blockade

(2019) Nicolas Jacquelot et al.   CELL RESEARCH

Measles virus infection diminishes preexisting antibodies that offer protection from other pathogens

(2019) Michael J. Mina et al.   SCIENCE

Infectious complications associated with the use of immune checkpoint inhibitors in oncology: reactivation of tuberculosis after anti PD-1 treatment

(2018) H. Picchi et al.   CLINICAL MICROBIOLOGY AND INFECTION

Batch effects in single-cell RNA-sequencing data are corrected by matching mutual nearest neighbors

(2018) Laleh Haghverdi et al.   NATURE BIOTECHNOLOGY

Immune-Related Adverse Events Associated with Immune Checkpoint Blockade

(2018) Michael A. Postow et al.   NEW ENGLAND JOURNAL OF MEDICINE

Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations

(2018) Lisa R. Forbes et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

PhIP-Seq characterization of serum antibodies using oligonucleotide-encoded peptidomes

(2018) Divya Mohan et al.   Nature Protocols

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

(2018) Patrick Maffucci et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tocilizumab for the management of immune mediated adverse events secondary to PD-1 blockade

(2017) Chipman RG Stroud et al.   JOURNAL OF ONCOLOGY PHARMACY PRACTICE

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

(2016) J. Toubiana et al.   BLOOD

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+T cells into distinct effector subsets

(2016) Cindy S. Ma et al.   JOURNAL OF EXPERIMENTAL MEDICINE

The mutation significance cutoff: gene-level thresholds for variant predictions

(2016) Yuval Itan et al.   NATURE METHODS

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

(2016) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Nonoverlapping roles of PD-1 and FoxP3 in maintaining immune tolerance in a novel autoimmune pancreatitis mouse model

(2016) Baihao Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Global Burden of Latent Tuberculosis Infection: A Re-estimation Using Mathematical Modelling

(2016) Rein M. G. J. Houben et al.   PLOS MEDICINE

Magnitude and Kinetics of CD8 + T Cell Activation during Hyperacute HIV Infection Impact Viral Set Point

(2015) Zaza M. Ndhlovu et al.   IMMUNITY

MR1-restricted mucosal associated invariant T (MAIT) cells in the immune response toMycobacterium tuberculosis

(2015) Marielle C. Gold et al.   IMMUNOLOGICAL REVIEWS

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

(2015) Alexandra Y. Kreins et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Anti–PD-1–Related Pneumonitis during Cancer Immunotherapy

(2015) Mizuki Nishino et al.   NEW ENGLAND JOURNAL OF MEDICINE

Comprehensive serological profiling of human populations using a synthetic human virome

(2015) G. J. Xu et al.   SCIENCE

Transmission of innate immune signaling by packaging of cGAMP in viral particles

(2015) Matteo Gentili et al.   SCIENCE

Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

(2015) S. Okada et al.   SCIENCE

Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3

(2014) E. M. Haapaniemi et al.   BLOOD

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

(2014) J. D. Milner et al.   BLOOD

T-cell Immunoglobulin and ITIM Domain (TIGIT) Receptor/Poliovirus Receptor (PVR) Ligand Engagement Suppresses Interferon-γ Production of Natural Killer Cells via β-Arrestin 2-mediated Negative Signaling

(2014) Man Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

(2014) Jean-Laurent Casanova et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Expanded Double Negative T Cells in Patients with Systemic Lupus Erythematosus Produce IL-17 and Infiltrate the Kidneys

(2014) J. C. Crispin et al.   JOURNAL OF IMMUNOLOGY

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

(2014) Sarah E Flanagan et al.   NATURE GENETICS

Human housekeeping genes, revisited

(2013) Eli Eisenberg et al.   TRENDS IN GENETICS

clusterProfiler: an R Package for Comparing Biological Themes Among Gene Clusters

(2012) Guangchuang Yu et al.   OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY

Selective Effects of PD-1 on Akt and Ras Pathways Regulate Molecular Components of the Cell Cycle and Inhibit T Cell Proliferation

(2012) N. Patsoukis et al.   Science Signaling

Differential expression in RNA-seq: A matter of depth

(2011) S. Tarazona et al.   GENOME RESEARCH

T Cells from Programmed Death-1 Deficient Mice Respond Poorly to Mycobacterium tuberculosis Infection

(2011) Sultan Tousif et al.   PLoS One

PD-1 deficiency results in the development of fatal myocarditis in MRL mice

(2010) Jian Wang et al.   INTERNATIONAL IMMUNOLOGY

Antimicrobial activity of mucosal-associated invariant T cells

(2010) Lionel Le Bourhis et al.   NATURE IMMUNOLOGY

Programmed death-1 (PD-1)-deficient mice are extraordinarily sensitive to tuberculosis

(2010) E. Lazar-Molnar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Type I IFN and TNFα cross-regulation in immune-mediated inflammatory disease: basic concepts and clinical relevance

(2010) Tineke Cantaert et al.   ARTHRITIS RESEARCH & THERAPY

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

(2009) M. D. Robinson et al.   BIOINFORMATICS

FAS-L, IL-10, and double-negative CD4-CD8- TCR  / + T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function

(2009) A. Magerus-Chatinet et al.   BLOOD

Deficiency of Th17 cells in hyper IgE syndrome due to mutations inSTAT3

(2008) Cindy S. Ma et al.   JOURNAL OF EXPERIMENTAL MEDICINE