Clinical Features and Genetic Analysis of Autosomal Dominant and Recessive Hyperimmunoglobulin E Syndrome
10.12376/j.issn.2097-0501.2022.03.007
- VernacularTitle:常染色体显性及隐性遗传高免疫球蛋白E综合征临床特征及基因分析
- Author:
Shan WANG
1
;
Ying LIU
1
;
Zigang XU
1
;
Zhaoyang WANG
1
;
Lei JIAO
1
;
Yuan LIANG
1
;
Zhe XU
1
;
Lin MA
1
Author Information
1. Department of Dermatology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
- Publication Type:Journal Article
- Keywords:
hyperimmunoglobulin E syndrome;
STAT3 gene;
DOCK8 gene;
eczema;
primary immunodeficiency diseases
- From:
JOURNAL OF RARE DISEASES
2022;1(3):268-277
- CountryChina
- Language:Chinese
-
Abstract:
Objective To summarize the clinical and genetic features of children with autosomal dominant and recessive hyperimmunoglobulin E syndrome (HIES). Methods HIES patients were studied at the dermatology department of Beijing Children's Hospital, Capital Medical University were collected, from January 2013 to December 2021, diagnosed by both clinical manifestation and genetic assessment. The general data were summarized, the clinical and genetic characteristics were analyzed, and the similarities and differences between autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES) were compared. Results A total of 7 children with HIES were studied, including 3 cases of AD-HIES and 4 cases of AR-HIES. There were 4 males and 3 females. All children had recurrent eczema-like lesions, recurrent skin and pulmonary infections, and elevated serum IgE and eosinophil levels. The differences between AD-HIES and AR-HIES mainly include: the main cutaneous infection in 3 children with AD-HIES were bacterial infections (such as abscess and impetigo), while in 4 children with AR-HIES, cutaneous infections were mostly severe viral infection (such as verruca vulgaris and molluscum contagiosum). There were pulmonary parenchymal changes (such as pneumatoceles, cyst and atelectasis) in 3 children with AD-HIES, whilst there were no similar changes in the lungs of 4 children with AR-HIES; 75% of children with AR-HIES had allergic diseases (including asthma and food allergy), while there were no reports of allergic diseases in children with AD-HIES. As for manifestations outside of immune system, AD-HIES was more likely to appear facial dysmorphism(such a broad nasal bridge and a high-arched palate). Furthermore, the incidence of tumor in AR-HIES was higher than that in AD-HIES. AD-HIES was mainly caused by the mutation of STAT3 gene, and AR-HIES was mainly caused by the mutation of DOCK8 gene. We reported two new mutation sites of DOCK8 gene c.1798-2A > T and c.874G > A in two cases, respectively. Conclusions For children with clinical manifestations of recurrent eczema-like lesions, repeated infection and significant increase in serum IgE levels, HIES should be suspected, and genetic screening should be carried out to make definite diagnosis and classification, to achieve better long-term management and improve prognosis.
