ArticleMedicine2019
Hyper IgE syndrome associated with novel and recurrent STAT3 mutations: Two case reports.
Article in Medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 13 citations in OpenAlex.
- Clinical analysis of hyperimmunoglobulin E syndrome in children withTranslational pediatrics · 2025Article
- Mouse Model of STAT3 Mutation Resulting in Job's Syndrome Diverges from Human Pathology.International journal of molecular sciences · 2025Article
- Dermatologic presentations of hyper IgE syndrome in pediatric patients.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2025Review
- In Silico Analyses of All STAT3 Missense Variants Leading to Explore Divergent AD-HIES Clinical Phenotypes.Evolutionary bioinformatics online · 2023Article
- Delayed diagnosis of hyperimmunoglobulin E syndrome with STAT3 mutation in mainland China: a case report and literature review.The Journal of international medical research · 2021Review
- A Novel STAT3 Mutation in a Patient with Hyper-IgE Syndrome Diagnosed with a Severe Necrotizing Pulmonary Infection.Journal of asthma and allergy · 2021Article
- An aberrant STAT pathway is central to COVID-19.Cell death and differentiation · 2020Review
- CD4 T Helper Cell Subsets and Related Human Immunological Disorders.International journal of molecular sciences · 2020Review
- Paediatric pulmonary Langerhans cell histiocytosis.Breathe (Sheffield, England) · 2020Review
- The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutations.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2020Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
rationaleHyper-IgE syndrome (HIES) is a rare primary immunodeficiency presenting as two forms including autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES), which are mainly caused by mutations in STAT3 and DOCK8, respectively. To date, only about 500 cases have been reported worldwide including 37 cases in China. The spectrum and prevalence of mutations and molecular pathogenesis in HIES remain poorly understood. PATIENT CONCERNS: Here we reported two Chinese children presenting clinical manifestations of HIES. DIAGNOSIS: Based on medical history, clinical manifestations, and laboratory findings, a diagnosis of HIES was made for both children. Targeted next-generation sequencing (NGS) identified a novel heterozygous deletion of 15 bp (c.1960_1974del, p.G654_D658del or alternatively c.1966_1980del, and p.G656_D660del), and a recurrent missense mutation (c.1144C>T, p.R382W) in STAT3 in the two patients, respectively.
interventionsThe two patients have been given the successful treatment of skin infections with cefaclor. OUTCOMES: Both patients have been under follow-up for more than 6 months, with no signs of recurrent infections. LESSONS: Our results extend the spectrum of STAT3 mutations associated with ADHIES and highlight the value of targeted NGS in confirming diagnosis of genetic disorders.
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