ArticleProceedings of the National Academy of Sciences of the United States of America2019
A deep intronic splice mutation of
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In one paragraph
Article in Proceedings of the National Academy of Sciences of the United States of America, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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21citing papers in PubMed
1.0field-weighted citation impact, top 24% of its field
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Who cites it
21 citing papers in PubMed, 29 citations in OpenAlex.
- STAT3 haploinsufficiency is associated with autosomal dominant hyper-IgE syndrome.Science advances · 2025Article
- Signal Transducer and Activator of Transcription 3 (STAT3) Variant p.K709N Causes Hyper-IgE Syndrome Likely by Impaired STAT3-Dimer Formation.European journal of immunology · 2025Article
- Pulmonary features and stage of disease in adult patients with hyper-IgE syndrome: a single-centre clinical study and literature review.Orphanet journal of rare diseases · 2025Article
- Hyper-IgE Syndrome: A Case Report with Insights from Bioinformatics Analysis of Key Pathways and Genes.Infection and drug resistance · 2025Article
- Unraveling the unphosphorylated STAT3-unphosphorylated NF-κB pathway in loss of function STAT3 Hyper IgE syndrome.Frontiers in immunology · 2024Article
- Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks.Frontiers in immunology · 2024Article
- JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences.Journal of clinical immunology · 2023Review
- Cellular population dynamics shape the route to human pluripotency.Nature communications · 2023Article
- The complementary roles of STAT3 and STAT1 in cancer biology: insights into tumor pathogenesis and therapeutic strategies.Frontiers in immunology · 2023Review
- Transcription factor defects in inborn errors of immunity with atopy.Frontiers in allergy · 2023Review
- Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8.Journal of clinical immunology · 2022Article
- Inborn errors of IL-6 family cytokine responses.Current opinion in immunology · 2021Review
- Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.The Journal of experimental medicine · 2021Article
- STAT3 Hyper-IgE Syndrome-an Update and Unanswered Questions.Journal of clinical immunology · 2021Review
- An appraisal of the Wilson & Jungner criteria in the context of genomic-based newborn screening for inborn errors of immunity.The Journal of allergy and clinical immunology · 2021Review
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- STAT3 deficiency in B cells exacerbates uveitis by promoting expansion of pathogenic lymphocytes and suppressing regulatory B cells (Bregs) and Tregs.Scientific reports · 2020Article
- Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.The Journal of experimental medicine · 2020Article
- Recent advances in primary immunodeficiency: from molecular diagnosis to treatment.F1000Research · 2020Review
- AllergoOncology: ultra-low IgE, a potential novel biomarker in cancer-a Position Paper of the European Academy of Allergy and Clinical Immunology (EAACI).Clinical and translational allergy · 2020Review
Corrections and comments
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Authors and funding
25 authors at 10 institutions in 4 countries.
Joëlle KhouriehLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France.
Geetha RaoImmunology Division, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
Tanwir HabibResearch Branch, Sidra Medicine, Qatar Foundation, Doha, Qatar.
Danielle T AveryImmunology Division, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
Alain Lefèvre-UtileLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France.
Marie-Olivia ChandesrisImagine Institute, Paris Descartes University, 75015 Paris, France.
Aziz BelkadiLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France.
Maya ChrabiehLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France.
Hanan AlwaseemProteomic Center, The Rockefeller University, New York, NY 10065.
Virginie GrandinStudy Center for Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.
Françoise Sarrot-ReynauldInternal Medicine Unit, Grenoble Hospital, 38043 Grenoble, France.
Agathe SénéchalPneumology Unit, Louis Pradel Hospital, 69500 Bron, France.
Olivier LortholaryImagine Institute, Paris Descartes University, 75015 Paris, France.
Xiao-Fei KongSt. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065.
Stéphanie Boisson-DupuisLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France.
Capucine PicardLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France.ORCID 0000-0001-8788-5056
Anne PuelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France.
Vivien BéziatLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France.ORCID 0000-0002-4020-824X
Qian ZhangSt. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065.
Laurent AbelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France.
Henrik MolinaProteomic Center, The Rockefeller University, New York, NY 10065.
Nico MarrResearch Branch, Sidra Medicine, Qatar Foundation, Doha, Qatar.
Stuart G TangyeImmunology Division, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
Jean-Laurent CasanovaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France; casanova@rockefeller.edu bebo283@rockefeller.edu.
Bertrand BoissonLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France; casanova@rockefeller.edu bebo283@rockefeller.edu.
Inserm · FRRockefeller University · USGarvan Institute of Medical Research · AUHôpital Necker-Enfants Malades · FRCentre National de la Recherche Scientifique · FRHamad bin Khalifa University · QAHôpital Louis Pradel · FRHoward Hughes Medical Institute · USQatar Foundation · QAUniversité Paris Cité · FR
Funding
Howard Hughes Medical Institute
Abstract
Heterozygous in-frame mutations in coding regions of human
Indexed as
AdultAllelesB-LymphocytesChild, PreschoolDNA-Binding ProteinsExonsFemaleGene Expression RegulationHeterozygoteHumansJob SyndromeLoss of Function MutationMaleMiddle AgedRNA Splice SitesSTAT3 Transcription FactorDNA-Binding ProteinsRNA Splice SitesSTAT3 Transcription Factordominant negativehyper IgE syndromeimmunodeficiencyinfectious diseasesSTAT3
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.