Related references
Note: Only part of the references are listed.Advances in IL-21 biology - enhancing our understanding of human disease
Stuart G. Tangye
CURRENT OPINION IN IMMUNOLOGY (2015)
Inherited and acquired immunodeficiencies underlying tuberculosis in childhood
Stephanie Boisson-Dupuis et al.
IMMUNOLOGICAL REVIEWS (2015)
Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis
Yun Ling et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2015)
Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor β1 Deficiency
Monia Ouederni et al.
CLINICAL INFECTIOUS DISEASES (2014)
Human IL-21 and IL-21R deficiencies: two novel entities of primary immunodeficiency
Daniel Kotlarz et al.
CURRENT OPINION IN PEDIATRICS (2014)
Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies
Jean-Laurent Casanova et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2014)
Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity
Jacinta Bustamante et al.
SEMINARS IN IMMUNOLOGY (2014)
Targeted NGS: a cost-effective approach to molecular diagnosis of PIDs
Jennifer L. Stoddard et al.
FRONTIERS IN IMMUNOLOGY (2014)
Suppression of elevations in serum C reactive protein levels by anti-IL-6 autoantibodies in two patients with severe bacterial infections
Toshihiro Nanki et al.
ANNALS OF THE RHEUMATIC DISEASES (2013)
The Genetic Theory of Infectious Diseases: A Brief History and Selected Illustrations
Jean-Laurent Casanova et al.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 14 (2013)
An ACT1 Mutation Selectively Abolishes Interleukin-17 Responses in Humans with Chronic Mucocutaneous Candidiasis
Bertrand Boisson et al.
IMMUNITY (2013)
Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8+ T-cell memory formation and function
Megan L. Ives et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2013)
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome
Daniel Kotlarz et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2013)
A Restricted Role for TYK2 Catalytic Activity in Human Cytokine Responses Revealed by Novel TYK2-Selective Inhibitors
Sue J. Sohn et al.
JOURNAL OF IMMUNOLOGY (2013)
The human gene connectome as a map of short cuts for morbid allele discovery
Yuval Itan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
STAT2 deficiency and susceptibility to viral illness in humans
Sophie Hambleton et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Immunology Taught by Human Genetics
Jean-Laurent Casanova et al.
IMMUNITY AND TOLERANCE (2013)
Hyper-IgE syndrome update
Kathryn J. Sowerwine et al.
YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY III (2012)
Functional STAT3 deficiency compromises the generation of human T follicular helper cells
Cindy S. Ma et al.
BLOOD (2012)
Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes
Stephanie Boisson-Dupuis et al.
CURRENT OPINION IN IMMUNOLOGY (2012)
Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease
H. Mao et al.
GENES AND IMMUNITY (2012)
Inborn Errors of Human JAKs and STATs
Jean-Laurent Casanova et al.
IMMUNITY (2012)
A Patient with Tyrosine Kinase 2 Deficiency without Hyper-IgE Syndrome
Sara S. Kilic et al.
JOURNAL OF PEDIATRICS (2012)
Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome Molecular, Cellular, and Clinical Features From a French National Survey
Marie-Olivia Chandesris et al.
MEDICINE (2012)
TYK2 Kinase Activity Is Required for Functional Type I Interferon Responses In Vivo
Michaela Prchal-Murphy et al.
PLOS ONE (2012)
IL-10 and IL-10 receptor defects in humans
Erik-Oliver Glocker et al.
YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY II (2011)
Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation
Donatella Vairo et al.
BLOOD (2011)
IL-7 Engages Multiple Mechanisms to Overcome Chronic Viral Infection and Limit Organ Pathology
Marc Pellegrini et al.
CELL (2011)
Recent Insights into the Pathobiology of Innate Immune Deficiencies
Sergio D. Rosenzweig et al.
CURRENT ALLERGY AND ASTHMA REPORTS (2011)
Tyrosine kinase 2 (TYK2) in cytokine signalling and host immunity
Birgit Strobl et al.
FRONTIERS IN BIOSCIENCE-LANDMARK (2011)
A Critical Role for STAT3 Transcription Factor Signaling in the Development and Maintenance of Human T Cell Memory
Andrea M. Siegel et al.
IMMUNITY (2011)
Tyk2 deficiency protects joints against destruction in anti-type II collagen antibody-induced arthritis in mice
Masayuki Ishizaki et al.
INTERNATIONAL IMMUNOLOGY (2011)
Defective IL-10 signaling in hyper-IgE syndrome results in impaired generation of tolerogenic dendritic cells and induced regulatory T cells
Masako Saito et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2011)
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
Luyan Liu et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2011)
Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease
Audrey V. Grant et al.
JOURNAL OF MEDICAL GENETICS (2011)
STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis
Frank L. van de Veerdonk et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
IL-12Rβ1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey
Stephanie Boisson-Dupuis et al.
PLOS ONE (2011)
Automated minimization of steric clashes in protein structures
Srinivas Ramachandran et al.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (2011)
Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity
Anne Puel et al.
SCIENCE (2011)
A novel form of human STAT1 deficiency impairing early but not late responses to interferons
Xiao-Fei Kong et al.
BLOOD (2010)
Pathogenesis of Hyper IgE Syndrome
Jennifer Heimall et al.
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY (2010)
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma
Minji Byun et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2010)
Infant colitis-it's in the genes
Erik-Oliver Glocker et al.
LANCET (2010)
Revisiting Human IL-12Rβ1 Deficiency A Survey of 141 Patients From 30 Countries
Ludovic de Beaucoudrey et al.
MEDICINE (2010)
Janus kinases in immune cell signaling
Kamran Ghoreschi et al.
IMMUNOLOGICAL REVIEWS (2009)
A partial form of recessive STAT1 deficiency in humans
Ariane Chapgier et al.
JOURNAL OF CLINICAL INVESTIGATION (2009)
Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor
Erik-Oliver Glocker et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
A Vital Role for Interleukin-21 in the Control of a Chronic Viral Infection
John S. Yi et al.
SCIENCE (2009)
IL-21 Is Required to Control Chronic Viral Infection
Heidi Elsaesser et al.
SCIENCE (2009)
IL-21R on T Cells Is Critical for Sustained Functionality and Control of Chronic Viral Infection
Anja Froehlich et al.
SCIENCE (2009)
Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3
Michelle L. Paulson et al.
CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY (2008)
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
Shen-Ying Zhang et al.
IMMUNOLOGICAL REVIEWS (2008)
Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3
Cindy S. Ma et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2008)
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells
Ludovic de Beaucoudrey et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2008)
Recurrent Staphylococcal cellulitis and subcutaneous abscesses in a child with autoantibodies against IL-6
Anne Puel et al.
JOURNAL OF IMMUNOLOGY (2008)
STAT3 mutations in the hyper-IgE syndrome
Steven M. Holland et al.
NEW ENGLAND JOURNAL OF MEDICINE (2007)
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome
Yoshiyuki Minegishi et al.
NATURE (2007)
Expression of Tyk2 in dendritic cells is required for IL-12, IL-23, and IFN-γ production and the induction of Th1 cell differentiation
Naoki Tokumasa et al.
BLOOD (2007)
Human primary immunodeficiencies of type I interferons
Emmanuelle Jouanguy et al.
BIOCHIMIE (2007)
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity
Yoshiyuki Minegishi et al.
IMMUNITY (2006)
A protective role for IL-6 in staphylococcal microbial keratitis
Emma B. H. Hume et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2006)
IL-10 is required for optimal CD8 T cell memory following Listeria monocytogenes infection
Kathryn E. Foulds et al.
JOURNAL OF IMMUNOLOGY (2006)
Human complete Stat-1 deficiency is associated with defective type I and IIIFN responses in vitro but immunity to some low virulence viruses in vivo
Ariane Chapgier et al.
JOURNAL OF IMMUNOLOGY (2006)
Roles of interleukin-6 in activation of STAT proteins and recruitment of neutrophils during Escherichia coli pneumonia
MR Jones et al.
JOURNAL OF INFECTIOUS DISEASES (2006)
Endogenous interleukin-6 plays a crucial protective role in streptococcal toxic shock syndrome via suppression of tumor necrosis factor alpha production
H Diao et al.
INFECTION AND IMMUNITY (2005)
Full house: 12 receptors for 27 cytokines
SV Kotenko et al.
INTERNATIONAL IMMUNOPHARMACOLOGY (2004)
Signaling by IL-12 and IL-23 and the immunoregulatory roles of STAT4
WT Watford et al.
IMMUNOLOGICAL REVIEWS (2004)
Interferons, interferon-like cytokines, and their receptors
S Pestka et al.
IMMUNOLOGICAL REVIEWS (2004)
Bacillus Calmette Guerin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes
J Feinberg et al.
EUROPEAN JOURNAL OF IMMUNOLOGY (2004)
A natural mutation in the Tyk2 pseudokinase domain underlies altered susceptibility of B10.Q/J mice to infection and autoimmunity
MH Shaw et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Impaired response to interferon-α/β and lethal viral disease in human STAT1 deficiency
S Dupuis et al.
NATURE GENETICS (2003)
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor β1 deficiency:: Medical and immunological implications
C Fieschi et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2003)
The tyrosine kinase Tyk2 controls IFNAR1 cell surface expression
J Ragimbeau et al.
EMBO JOURNAL (2003)
Pseudomonas aeruginosa keratitis in IL-6-deficient mice
N Cole et al.
INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY (2003)
IFN-lambda s mediate antiviral protection through a distinct class II cytokine receptor complex
SV Kotenko et al.
NATURE IMMUNOLOGY (2003)
Partial impairment of interleukin-12 (IL-12) and IL-18 signaling in Tyk2-deficient mice
K Shimoda et al.
BLOOD (2002)
Interleukin-12 receptor β1 deficiency in a patient with abdominal tuberculosis
F Altare et al.
JOURNAL OF INFECTIOUS DISEASES (2001)
Impairment of Mycobacterial But Not Viral Immunity by a Germline Human STAT1 Mutation
S Dupuis et al.
SCIENCE (2001)
A heritable defect in IL-12 signaling in B10.Q/J mice.: II.: Effect on acute resistance to Toxoplasma gondii and rescue by IL-18 treatment
GS Yap et al.
JOURNAL OF IMMUNOLOGY (2001)
A heritable defect in IL-12 signaling in B10.Q/J mice. I. In vitro analysis
R Ortmann et al.
JOURNAL OF IMMUNOLOGY (2001)
Tyk2 plays a restricted role in IFNα signaling, although it is required for IL-12-mediated T cell function
K Shimoda et al.
IMMUNITY (2000)
Partial impairment of cytokine responses in Tyk2-deficient mice
M Karaghiosoff et al.
IMMUNITY (2000)