The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutations
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Allergy, Asthma & Clinical Immunology Open Access
RESEARCH
The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutations Li Lin1, Ying Wang1, Bijun Sun1, Luyao Liu1, Wenjing Ying1, Wenjie Wang1, Qinhua Zhou1, Jia Hou1, Haili Yao1, Liyuan Hu2*, Jinqiao Sun1* and Xiaochuan Wang1*
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. Keywords: STAT3, Hyperimmunoglobulin E syndrome, HIES, Primary immunodeficiency disease, STAT3 deficiency Background Loss-of-function (LOF) mutations in the signal transducer and activator of transcription 3 (STAT3) gene constitute one of the underlying causes of the autosomal dominant (AD) hyperimmunoglobulin E (IgE) syndrome
*Correspondence: [email protected]; [email protected]; [email protected] 1 Department of Clinical Immunology, Children’s Hospital of Fudan University, 399 Wanyuan Road, Shanghai 201102, China 2 Department of Neonatology, Children’s Hospital of Fudan University, 399 Wanyuan Road, Shanghai 201102, China
(HIES). The most current disease abbreviation is STAT3HIES [1]. STAT3-HIES was first described as Job syndrome in 1966, and it is characterized by eczematous dermatitis, recurrent skin and pulmonary abscesses and elevated serum IgE levels [2–4]. Non-immunological abnormalities are bone abnormalities, retention of the primary teeth, specific facial features and lack of growth [5]. There is no predominant sex or ethnicity among STAT3-HIES patients [6]. Staphylococcus aureus and candidiasis are the most common pathogens [7]. In addition, STAT3-deficie
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