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

Advances in IL-21 biology—enhancing our understanding of human disease

(2015) Stuart G Tangye   CURRENT OPINION IN IMMUNOLOGY

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

(2015) Stéphanie Boisson-Dupuis et al.   IMMUNOLOGICAL REVIEWS

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

(2015) Yun Ling et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Human IL-21 and IL-21R deficiencies

(2014) Daniel Kotlarz et al.   CURRENT OPINION IN PEDIATRICS

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

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

Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

(2014) Jacinta Bustamante et al.   SEMINARS IN IMMUNOLOGY

Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs

(2014) Jennifer L. Stoddard et al.   Frontiers in Immunology

Suppression of elevations in serum C reactive protein levels by anti-IL-6 autoantibodies in two patients with severe bacterial infections

(2013) Toshihiro Nanki et al.   ANNALS OF THE RHEUMATIC DISEASES

The Genetic Theory of Infectious Diseases: A Brief History and Selected Illustrations

(2013) Jean-Laurent Casanova et al.   Annual Review of Genomics and Human Genetics

Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor β1 Deficiency

(2013) Monia Ouederni et al.   CLINICAL INFECTIOUS DISEASES

An ACT1 Mutation Selectively Abolishes Interleukin-17 Responses in Humans with Chronic Mucocutaneous Candidiasis

(2013) Bertrand Boisson et al.   IMMUNITY

Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8+ T-cell memory formation and function

(2013) Megan L. Ives et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

(2013) Daniel Kotlarz et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A Restricted Role for TYK2 Catalytic Activity in Human Cytokine Responses Revealed by Novel TYK2-Selective Inhibitors

(2013) S. J. Sohn et al.   JOURNAL OF IMMUNOLOGY

The human gene connectome as a map of short cuts for morbid allele discovery

(2013) Y. Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

STAT2 deficiency and susceptibility to viral illness in humans

(2013) S. Hambleton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IL-10 and IL-10 receptor defects in humans

(2012) Erik-Oliver Glocker et al.   Annals of the New York Academy of Sciences

Hyper-IgE syndrome update

(2012) Kathryn J. Sowerwine et al.   Annals of the New York Academy of Sciences

Functional STAT3 deficiency compromises the generation of human T follicular helper cells

(2012) C. S. Ma et al.   BLOOD

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

(2012) Stephanie Boisson-Dupuis et al.   CURRENT OPINION IN IMMUNOLOGY

Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease

(2012) H Mao et al.   GENES AND IMMUNITY

Inborn Errors of Human JAKs and STATs

(2012) Jean-Laurent Casanova et al.   IMMUNITY

The JAK-STAT Pathway at Twenty

(2012) George R. Stark et al.   IMMUNITY

A Patient with Tyrosine Kinase 2 Deficiency without Hyper-IgE Syndrome

(2012) Sara S. Kilic et al.   JOURNAL OF PEDIATRICS

Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome

(2012) Marie-Olivia Chandesris et al.   MEDICINE

TYK2 Kinase Activity Is Required for Functional Type I Interferon Responses In Vivo

(2012) Michaela Prchal-Murphy et al.   PLoS One

Severe impairment of IFN-  and IFN-  responses in cells of a patient with a novel STAT1 splicing mutation

(2011) D. Vairo et al.   BLOOD

IL-7 Engages Multiple Mechanisms to Overcome Chronic Viral Infection and Limit Organ Pathology

(2011) Marc Pellegrini et al.   CELL

Recent Insights into the Pathobiology of Innate Immune Deficiencies

(2011) Sergio D. Rosenzweig et al.   CURRENT ALLERGY AND ASTHMA REPORTS

Tyrosine kinase 2 (TYK2) in cytokine signalling and host immunity

(2011) Birgit Strobl   Frontiers in Bioscience-Landmark

A Critical Role for STAT3 Transcription Factor Signaling in the Development and Maintenance of Human T Cell Memory

(2011) Andrea M. Siegel et al.   IMMUNITY

Tyk2 deficiency protects joints against destruction in anti-type II collagen antibody-induced arthritis in mice

(2011) M. Ishizaki et al.   INTERNATIONAL IMMUNOLOGY

Defective IL-10 signaling in hyper-IgE syndrome results in impaired generation of tolerogenic dendritic cells and induced regulatory T cells

(2011) Masako Saito et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Gain-of-function humanSTAT1mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

(2011) Luyan Liu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease

(2011) A. V. Grant et al.   JOURNAL OF MEDICAL GENETICS

STAT1Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis

(2011) Frank L. van de Veerdonk et al.   NEW ENGLAND JOURNAL OF MEDICINE

IL-12Rβ1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey

(2011) Stéphanie Boisson-Dupuis et al.   PLoS One

Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity

(2011) A. Puel et al.   SCIENCE

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

(2010) X.-F. Kong et al.   BLOOD

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

Infant colitis—it's in the genes

(2010) Erik-Oliver Glocker et al.   LANCET

Revisiting Human IL-12Rβ1 Deficiency

(2010) Ludovic de Beaucoudrey et al.   MEDICINE

Automated minimization of steric clashes in protein structures

(2010) Srinivas Ramachandran et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Pathogenesis of Hyper IgE Syndrome

(2009) Jennifer Heimall et al.   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

Hyper-IgE syndrome

(2009) Yoshiyuki Minegishi   CURRENT OPINION IN IMMUNOLOGY

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

Janus kinases in immune cell signaling

(2009) Kamran Ghoreschi et al.   IMMUNOLOGICAL REVIEWS

A partial form of recessive STAT1 deficiency in humans

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

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

(2009) Erik-Oliver Glocker et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Vital Role for Interleukin-21 in the Control of a Chronic Viral Infection

(2009) J. S. Yi et al.   SCIENCE

IL-21 Is Required to Control Chronic Viral Infection

(2009) H. Elsaesser et al.   SCIENCE

IL-21R on T Cells Is Critical for Sustained Functionality and Control of Chronic Viral Infection

(2009) A. Frohlich et al.   SCIENCE

Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3

(2008) Michelle L Paulson et al.   Current Opinion in Allergy and Clinical Immunology

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

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

Mutations inSTAT3andIL12RB1impair the development of human IL-17–producing T cells

(2008) Ludovic de Beaucoudrey et al.   JOURNAL OF EXPERIMENTAL MEDICINE