ArticleJournal of clinical immunology2014
Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients.
Article in Journal of clinical immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- A systematic review regarding the prevalence of malignancy in patients with the hyper-IgE syndrome.Clinical and experimental medicine · 2023Pooled it
- STAT3 haploinsufficiency is associated with autosomal dominant hyper-IgE syndrome.Science advances · 2025Article
- Understanding and Managing Hyper IgE Syndromes.ImmunoTargets and therapy · 2025Review
- JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences.Journal of clinical immunology · 2023Review
- DisseminatedOpen forum infectious diseases · 2023Article
- Genetic diagnosis of inborn errors of immunity using clinical exome sequencing.Frontiers in immunology · 2023Article
- A Young Woman with Autosomal Dominant Hyper Immunoglobulin E (job's) Syndrome Presenting with Acute Abdomen: a Case Report.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2022Article
- Investigation of the causal etiology in a patient with T-B+NK+ immunodeficiency.Frontiers in immunology · 2022Article
- Diagnostic challenge in a series of eleven patients with hyper IgE syndromes.Frontiers in immunology · 2022Article
- 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
- A deep intronic splice mutation ofProceedings of the National Academy of Sciences of the United States of America · 2019Article
- A curated transcriptome dataset collection to investigate inborn errors of immunity.F1000Research · 2019Article
- Eosinophilia and reduced STAT3 signaling affect neutrophil cell death in autosomal-dominant Hyper-IgE syndrome.European journal of immunology · 2018Article
- The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation.Immunologic research · 2017Article
- The Potential and Limits of Hematopoietic Stem Cell Transplantation for the Treatment of Autosomal Dominant Hyper-IgE Syndrome.Journal of clinical immunology · 2016Article
- The Ying and Yang of STAT3 in Human Disease.Journal of clinical immunology · 2015Review
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeAutosomal dominant Hyper IgE syndrome (AD-HIES) is a rare and complex primary immunodeficiency that affects multiple systems. Mutations in signal transducer and activator of transcription 3 (STAT3) gene cause AD-HIES. These mutations have a dominant-negative effect and the presence of such mutations is associated with a clinical phenotype. We aim to describe genetic and clinical characteristics of patients with AD-HIES in our clinic and to highlight the variability of clinical patterns in the same family.
methodsWe describe six patients, four individuals of the same family and two unrelated patients. All patients were given a clinical score based on disease phenotype according to the National Institute of Health (NIH) score. Mutation analysis of STAT3 was done by PCR amplification of all coding exons followed by bidirectional sequencing using the BigDye kit v1.1 and an ABI3700 genetic analyzer (Applied Biosystems).
resultsAll six patients had DNA binding region point mutations: a proband and his three children with p.Phe384Leu mutation, a patient with p.Arg382Trp substitution and a patient with p.Arg382Gln mutation. All of these mutations were previously reported. Patients differed in infectious, immunologic and somatic features. We observed an extreme variability in disease phenotype within the reported family with one genetically affected patient displaying an 'unaffected' phenotype.
conclusionsAlthough the genetic cause of AD-HIES is known, more studies are required to better understand the possible additional factors that may affect disease expressivity within families and the clinical diversity of the disease.
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