A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance
出版年份 2019 全文链接
标题
A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance
作者
关键词
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出版物
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume -, Issue -, Pages 201901409
出版商
Proceedings of the National Academy of Sciences
发表日期
2019-07-26
DOI
10.1073/pnas.1901409116
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Aspergillosis, eosinophilic esophagitis, and allergic rhinitis in signal transducer and activator of transcription 3 haploinsufficiency
- (2018) Mukil Natarajan et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency
- (2018) Hassan Abolhassani et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease
- (2018) Batsukh Dorjbal et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Human hyper-IgE syndrome: singular or plural?
- (2018) Qian Zhang et al. MAMMALIAN GENOME
- Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation
- (2018) Beate Hagl et al. Scientific Reports
- The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies
- (2017) Aziz Bousfiha et al. JOURNAL OF CLINICAL IMMUNOLOGY
- International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity
- (2017) Capucine Picard et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Mucocutaneous IL-17 immunity in mice and humans: host defense vs. excessive inflammation
- (2017) J Li et al. Mucosal Immunology
- Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome
- (2016) C. E. Bocchini et al. BLOOD
- Elucidating the effects of disease-causing mutations on STAT3 function in autosomal-dominant hyper-IgE syndrome
- (2016) Simon J. Pelham et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- 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
- Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children
- (2016) Beate Hagl et al. PEDIATRIC ALLERGY AND IMMUNOLOGY
- 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
- The JAK-STAT Pathway: Impact on Human Disease and Therapeutic Intervention
- (2015) John J. O'Shea et al. Annual Review of Medicine
- Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort
- (2015) J.C. Alcántara-Montiel et al. CLINICAL GENETICS
- 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
- Successful Haploidentical Donor Hematopoietic Stem Cell Transplant and Restoration of STAT3 Function in an Adolescent with Autosomal Dominant Hyper-IgE Syndrome
- (2015) N. C. Patel et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
- (2015) Alexandra Y. Kreins et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Mutations in the linker domain affect phospho-STAT3 function and suggest targets for interrupting STAT3 activity
- (2015) Claudia Mertens et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- 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
- 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
- Variable Clinical expressivity of STAT3 Mutation in Hyperimmunoglobulin E Syndrome: Genetic and Clinical Studies of Six Patients
- (2014) Ofir Wolach et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Novel STAT3 Mutation Causing Hyper-IgE Syndrome: Studies of the Clinical Course and Immunopathology
- (2014) Mikael Sundin et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Hyper IgE syndrome: anaphylaxis in a patient carrying the N567DSTAT3mutation
- (2014) Pietro Merli et al. PEDIATRIC ALLERGY AND IMMUNOLOGY
- Dominant-negative activity of the STAT3-Y705F mutant depends on the N-terminal domain
- (2013) Anne Mohr et al. Cell Communication and Signaling
- Severe eczema and Hyper-IgE in Loeys–Dietz-syndrome — Contribution to new findings of immune dysregulation in connective tissue disorders
- (2013) Kerstin Felgentreff et al. CLINICAL IMMUNOLOGY
- Genetic, Clinical, and Laboratory Markers for DOCK8 Immunodeficiency Syndrome
- (2013) Jeremiah C. Davis et al. DISEASE MARKERS
- 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
- Lung Parenchyma Surgery in Autosomal Dominant Hyper-IgE Syndrome
- (2013) Alexandra F. Freeman et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells
- (2013) Elissa K. Deenick et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Clinical Features, STAT3 Gene Mutations and Th17 Cell Analysis in Nine Children with Hyper-IgE Syndrome in Mainland China
- (2013) L.-Y. Zhang et al. SCANDINAVIAN JOURNAL OF IMMUNOLOGY
- DOCK8 deficiency
- (2012) Helen C. Su 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 JAKs and STATs
- (2012) Jean-Laurent Casanova et al. IMMUNITY
- STAT3 mutations correlated with hyper-IgE syndrome lead to blockage of IL-6/STAT3 signalling pathway
- (2012) Jianxin He et al. JOURNAL OF BIOSCIENCES
- Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome
- (2012) Marie-Olivia Chandesris et al. MEDICINE
- Identification of a novelSTAT3mutation in a patient with hyper-IgE syndrome
- (2012) Trine H. Mogensen et al. SCANDINAVIAN JOURNAL OF INFECTIOUS DISEASES
- Paucity of genotype–phenotype correlations in STAT3 mutation positive Hyper IgE Syndrome (HIES)
- (2011) Jennifer Heimall et al. CLINICAL IMMUNOLOGY
- SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function
- (2011) Mauro Giacomelli et al. EUROPEAN JOURNAL OF IMMUNOLOGY
- 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
- 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
- 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
- Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis
- (2010) Lena F. Schimke et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome
- (2010) Evgenios Goussetis et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
- (2010) Cristina Woellner et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- 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
- Rapid Molecular Analysis of the STAT3 Gene in Job Syndrome of Hyper-IgE and Recurrent Infectious Diseases
- (2010) Attila Kumánovics et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- A novel mutation in the signal transducer and activator of transcription 3 (STAT3) gene, in hyper-IgE syndrome
- (2010) Anastasios D. Papanastasiou et al. MOLECULAR IMMUNOLOGY
- Milder clinical hyperimmunoglobulin E syndrome phenotype is associated with partial interleukin-17 deficiency
- (2009) F. L. van de Veerdonk et al. CLINICAL AND EXPERIMENTAL IMMUNOLOGY
- Hyper-IgE syndrome
- (2009) Yoshiyuki Minegishi CURRENT OPINION IN IMMUNOLOGY
- A novel mutation in the linker domain of the signal transducer and activator of transcription 3 gene, p.Lys531Glu, in hyper-IgE syndrome
- (2009) Hee-Jin Kim et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Defects along the TH17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome
- (2009) Shadi Al Khatib et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- 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
- Combined Immunodeficiency Associated withDOCK8Mutations
- (2009) Qian Zhang et al. NEW ENGLAND JOURNAL OF MEDICINE
- Human Splicing Finder: an online bioinformatics tool to predict splicing signals
- (2009) François-Olivier Desmet et al. NUCLEIC ACIDS RESEARCH
- COCCIDIOIDES IMMITIS MENINGITIS IN A PATIENT WITH HYPERIMMUNOGLOBULIN E SYNDROME DUE TO A NOVEL MUTATION IN SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION
- (2009) Annie E. Powers et al. PEDIATRIC INFECTIOUS DISEASE JOURNAL
- Defects in Jak-STAT-mediated cytokine signals cause hyper-IgE syndrome: lessons from a primary immunodeficiency
- (2008) Y. Minegishi et al. INTERNATIONAL IMMUNOLOGY
- Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome
- (2008) Ellen D. Renner et al. JOURNAL OF 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
- Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups
- (2008) Hong Jiao et al. MOLECULAR IMMUNOLOGY
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