Author:
Lin Li,Wang Ying,Sun Bijun,Liu Luyao,Ying Wenjing,Wang Wenjie,Zhou Qinhua,Hou Jia,Yao Haili,Hu Liyuan,Sun Jinqiao,Wang Xiaochuan
Abstract
Abstract
Background
Loss-of-function (LOF) mutations in signal transducer and activator of transcription 3 (STAT3) is one of the causes of STAT3 hyperimmunoglobulin E (IgE) syndrome (STAT3-HIES), while gain-of-function (GOF) mutations in STAT3 lead to immune dysregulation diseases. We retrospectively analyzed the age, common clinical symptoms, immunologic and molecular manifestations in 11 patients with LOF STAT3 mutations and 1 patient with a GOF STAT3 mutation.
Methods
Twelve patients were enrolled in our study. Serum immunoglobulin measurements, lymphocyte subset detection and whole-exome sequencing were performed.
Results
The median age at diagnosis of STAT3-HIES patients was 4.74 years. Eczema, recurrent respiratory infections, fevers, abscesses and Staphylococcus aureus infections were the classic manifestations. Elevated serum IgE levels are not always observed in conjunction with high eosinophil counts. A moderate viral DNA load was also measured in peripheral blood mononuclear cells. We noticed that c. 1144C>T was the most common mutation site, followed by c.1311C>A. Additionally, c.1311C>A and c. 1826G>C are two novel mutations. Eight patients achieved notable improvement after receiving intravenous immunoglobulin.
Conclusion
We updated the current knowledge of this topic. We found an earlier median age at diagnosis, a higher survival rate, and a general lack of nonimmunological abnormalities; we also described the treatment details and novel mutations involve in STAT3-HIES and compared STAT3 LOF and GOF mutations.
Funder
National Natural Science Foundation of China
Children’s Hospital of Fudan University Funding
Shanghai Science and Technology Commission
Publisher
Springer Science and Business Media LLC
Subject
Pulmonary and Respiratory Medicine,Immunology,Immunology and Allergy
Cited by
10 articles.
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