Abstract
BackgroundAutosomal 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 presentationA 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.ConclusionsTwo 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.
Highlights
Autosomal recessive hyper-IgE syndrome (AR-Hyper IgE Syndrome (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
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 Autosomal recessive hyper-IgE syndrome (AR-HIES), which extends our understanding of DOCK8 gene mutation spectrum and phenotype of AR-HIES in children
The results of serum lymphocyte subsets suggested that total T lymphocytes were low and total B lymphocytes were normal; helper T cell/suppressor T cell (Th/Ts) fluctuated between 0.21 and 0.42, which were significantly lower than normal levels (1.03– 2.09); the percentage of assisted/induced T lymphocytes fluctuated between 9.26%-14.75%, which were lower than the normal level (18.2%-30.6%); the natural killer cell (NK cell) ranged from 18.01% to 31.79%, which was higher than the normal level (6.9%-19.3%)
Summary
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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