标题
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome
作者
关键词
-
出版物
JOURNAL OF EXPERIMENTAL MEDICINE
Volume 217, Issue 6, Pages -
出版商
Rockefeller University Press
发表日期
2020-03-24
DOI
10.1084/jem.20191804
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Conversations with Founders of the Field of Human Inborn Errors of Immunity
- (2020) Rebecca H. Buckley JOURNAL OF CLINICAL IMMUNOLOGY
- Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
- (2020) Yin-Huai Chen et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
- (2019) Dorota Monies et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Pleiotropy and Specificity: Insights from the Interleukin 6 Family of Cytokines
- (2019) Masaaki Murakami et al. IMMUNITY
- The nature of human IL-6
- (2019) Anne Puel et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses
- (2019) Sarah Spencer et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines
- (2019) Nicholas Hernandez et al. JOURNAL OF EXPERIMENTAL MEDICINE
- A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance
- (2019) Joëlle Khourieh et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations
- (2018) Peng Zhang et al. BIOINFORMATICS
- Human hyper-IgE syndrome: singular or plural?
- (2018) Qian Zhang et al. MAMMALIAN GENOME
- Selective loss of function variants in IL6ST cause Hyper-IgE Syndrome with distinct impairments of T cell phenotype and function
- (2018) Tala Shahin et al. HAEMATOLOGICA
- An Update on Syndromes with a Hyper-IgE Phenotype
- (2018) Jenna R.E. Bergerson et al. IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA
- A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis
- (2017) Tobias Schwerd et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Germline hypomorphic CARD11 mutations in severe atopic disease
- (2017) Chi A Ma et al. NATURE GENETICS
- Interleukin-6 Family Cytokines
- (2017) Stefan Rose-John Cold Spring Harbor Perspectives in Biology
- 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
- Leukemia inhibitory factor (LIF)
- (2015) Nicos A. Nicola et al. CYTOKINE & GROWTH FACTOR REVIEWS
- Oncostatin M and interleukin-31: Cytokines, receptors, signal transduction and physiology
- (2015) Heike M. Hermanns CYTOKINE & GROWTH FACTOR REVIEWS
- Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R
- (2015) B. Erman et al. HAEMATOLOGICA
- Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies
- (2015) Cindy S. Ma et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- The Ying and Yang of STAT3 in Human Disease
- (2015) Tiphanie P. Vogel et al. JOURNAL OF CLINICAL IMMUNOLOGY
- STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function
- (2015) Robert P. Wilson et al. JOURNAL OF EXPERIMENTAL MEDICINE
- IL-6 as a keystone cytokine in health and disease
- (2015) Christopher A Hunter et al. NATURE IMMUNOLOGY
- Human IFNAR2 deficiency: Lessons for antiviral immunity
- (2015) Christopher J. A. Duncan et al. Science Translational Medicine
- Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R
- (2015) B. Erman et al. HAEMATOLOGICA
- A mouse model of HIES reveals pro- and anti-inflammatory functions of STAT3
- (2014) S. M. Steward-Tharp et al. BLOOD
- STAT3 is a central regulator of lymphocyte differentiation and function
- (2014) Alisa Kane et al. CURRENT OPINION IN IMMUNOLOGY
- Human IL-21 and IL-21R deficiencies
- (2014) Daniel Kotlarz et al. CURRENT OPINION IN PEDIATRICS
- Extending the clinical and immunological phenotype of human interleukin-21 receptor deficiency
- (2014) P. Stepensky et al. HAEMATOLOGICA
- Early-onset inflammatory bowel disease and common variable immunodeficiency–like disease caused by IL-21 deficiency
- (2014) Elisabeth Salzer et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment
- (2014) Yu Zhang et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels
- (2014) Atfa Sassi et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology
- (2014) Dawn Mikelonis et al. Orphanet Journal of Rare Diseases
- Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome
- (2013) Daniel Kotlarz et al. JOURNAL OF EXPERIMENTAL MEDICINE
- IL-10 and IL-10 receptor defects in humans
- (2012) Erik-Oliver Glocker 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
- Loss of Interleukin-10 Signaling and Infantile Inflammatory Bowel Disease: Implications for Diagnosis and Therapy
- (2012) Daniel Kotlarz et al. GASTROENTEROLOGY
- IL-10R Polymorphisms Are Associated with Very-early-onset Ulcerative Colitis
- (2012) Christopher J. Moran et al. INFLAMMATORY BOWEL DISEASES
- Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome
- (2012) Marie-Olivia Chandesris et al. MEDICINE
- Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth
- (2011) Pekka Nieminen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Frequent and Widespread Vascular Abnormalities in Human Signal Transducer and Activator of Transcription 3 Deficiency
- (2011) Marie-Olivia Chandesris et al. Circulation-Cardiovascular Genetics
- 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
- Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity
- (2011) A. Puel et al. SCIENCE
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- Expression patterns of NKG2A, KIR, and CD57 define a process of CD56dim NK-cell differentiation uncoupled from NK-cell education
- (2010) N. K. Bjorkstrom et al. BLOOD
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- B cell–intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans
- (2010) Danielle T. Avery et al. JOURNAL OF EXPERIMENTAL MEDICINE
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- NK Cell Terminal Differentiation: Correlated Stepwise Decrease of NKG2A and Acquisition of KIRs
- (2010) Vivien Béziat et al. PLoS One
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome
- (2009) Karin R. Engelhardt et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- N-Linked Glycosylation Is Essential for the Stability but Not the Signaling Function of the Interleukin-6 Signal Transducer Glycoprotein 130
- (2009) Georg H. Waetzig et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Combined Immunodeficiency Associated withDOCK8Mutations
- (2009) Qian Zhang et al. NEW ENGLAND JOURNAL OF MEDICINE
- Oncostatin M Receptor-β Mutations Underlie Familial Primary Localized Cutaneous Amyloidosis
- (2008) Ken Arita et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome
- (2008) Joshua D. Milner et al. NATURE
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExplorePublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More