Autosomal recessive hyper‐IgE syndrome in two brothers of a Chinese family with a novel mutation in <i>DOCK8</i> gene

Wang, S.; Mou, Wenjun; Xu, Zhe; Gui, Jingang; Ma, Lin

doi:10.1111/jdv.14847

Cited by 3 publications

(1 citation statement)

References 5 publications

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“…To date, more than 130 mutations have been reported in DOCK8 gene all over the world, gross deletions are the most mutations among them. There are 11 different mutations of DOCK8 gene in Chinese patients with autosomal recessive high IgE syndrome (Table 1) [6][7][8][9][10][11]. Among the 11 patients, 3 patients had atopic dermatitis, 8 patients had eczema, 10 patients had a certain degree of infection and allergy symptoms.…”

Section: Literature Review Of Chinese Patients With Dock8 Gene Mutationmentioning

confidence: 99%

Autosomal recessive hyper-IgE syndrome caused by DOCK8 gene mutation with new clinical features: a case report

Yang

Liu

2021

BMC Neurol

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Background Autosomal recessive hyper-IgE syndrome (AR-HIES) caused by DOCK8 gene is a rare immunodeficiency disease, the main clinical manifestations include recurrent Eczema-like rash, skin and lung abscesses, accompanied with increased serum IgE level. Here, we report a 7-year-old Chinese girl with a new clinic features caused by DOCK8 gene mutations. Case presentation A 7-year-old girl was admitted to our hospital because of abnormal walking posture. The clinical manifestations of the patient included abnormal gait, eczema-like rash, fingertip abscess, high muscle tone, and facial paralysis. Among them, high muscle tone and facial paralysis are new clinic features which have not been reported previously. The blood eosinophils and serum IgE levels were significantly increased, and the lymphocyte subsets indicated a decrease of T lymphocytes. The magnetic resonance imaging (MRI) of her brain suggested myelin dysplasia and brain atrophy. Two novel compound heterozygous mutations (c.1868 + 2 T > C and c.5962-2A > G) of DOCK8 gene were identified by whole exome sequencing. By literature review, there are 11 mutations of DOCK8 gene in Chinese AR-HIES patients. Conclusions Two novel splice-site mutations(c.1868 + 2 T > C and c.5962-2A > G) of DOCK8 gene and new clinic features were found in a Chinese girl with AR-HIES, which extends our understanding of DOCK8 gene mutation spectrum and phenotype of AR-HIES in children.

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Section: Literature Review Of Chinese Patients With Dock8 Gene Mutationmentioning

confidence: 99%

Autosomal recessive hyper-IgE syndrome caused by DOCK8 gene mutation with new clinical features: a case report

Yang

Liu

2021

BMC Neurol

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Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review

Biglari,

Moghaddam,

Tabatabaiefar

et al. 2024

Genetics in Medicine

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Phenotypic and Genotypic Spectrum of Children with Autosomal Recessive Hyperimmunoglobulin E Syndrome Caused by DOCK8 Mutation: A Systematic Review of Case Reports

Sampath,

Yadav,

Juluri

et al. 2024

Indian Pediatrics Case Reports

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Background: Hyperimmunoglobulin E (IgE) syndrome (HIES) is a rare primary immunodeficiency disease, with features of recurrent eczema-like rashes, skin and lung infections, and elevated serum IgE. Common genetic mutations involve STAT3 and DOCK8 in autosomal dominant and recessive types, respectively. Objectives: Here, we aimed to systematically review all previously published case reports/series describing the clinical features, laboratory findings, and genetic analyses of children with autosomal recessive HIES (AR-HIES) caused by DOCK8 immunodeficiency. Methods: A comprehensive search was done in PubMed and Google Scholar, using defined search terms encompassing case reports or case series on AR-HIES. The identified reports underwent screening by different authors for inclusion and exclusion criteria. Results: A review of 50 articles covering 203 patients with DOCK8 immunodeficiency syndrome was done. Most cases were reported in countries such as Turkey, the USA, and Iran, with no significant gender disparity (92 males: 111 females). Patients exhibited a broad age range and early disease onset, with consanguinity present in 82% of cases. The most common clinical features included eczema (99%), allergic manifestations (93%), and respiratory infections (91%), associated with high IgE levels and eosinophilia. Exonic deletions were the most common mutations. Conclusion: This is one of the largest reviews collating data on DOCK8 deficiency, leading to AR-HIES. Exonic deletions were the most common mutations, with eczema and allergy being the most consistent clinical features.

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Autosomal recessive hyper‐IgE syndrome in two brothers of a Chinese family with a novel mutation in DOCK8 gene

Cited by 3 publications

References 5 publications

Autosomal recessive hyper-IgE syndrome caused by DOCK8 gene mutation with new clinical features: a case report

Autosomal recessive hyper-IgE syndrome caused by DOCK8 gene mutation with new clinical features: a case report

Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review

Phenotypic and Genotypic Spectrum of Children with Autosomal Recessive Hyperimmunoglobulin E Syndrome Caused by DOCK8 Mutation: A Systematic Review of Case Reports

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