BACKGROUND ACTA2 gene is a specific gene that encodes actin α2. Multisystem smooth muscle dysfunction syndrome (MSMDS) is a multisystem disease characterized by aortic and cerebrovascular lesions caused by ACTA2 gene mutations. There have been many reports of cardiac, pulmonary and cerebrovascular lesions caused by MSMDS; however, few studies have focused on seizures caused by MSMDS. CASE SUMMARY Our patient was a girl aged 7 years and 8 mo with recurrent cough, asthma and seizures for 7 years. She was diagnosed with severe pneumonia, congenital heart disease, cardiac insufficiency, and malnutrition in the local hospital. Cardiac ultrasonography revealed congenital heart disease, patent ductus arteriosus (with a diameter of 0.68 cm), left coronary arteriectasis, patent oval foramen (0.12 cm), tricuspid and pulmonary regurgitation, and pulmonary hypertension. Cerebral magnetic resonance imaging and magnetic resonance angiography indicated stiffness in the brain vessels, together with multiple aberrant signaling shadows in bilateral paraventricular regions. A heterozygous mutation ( c.536 G>A) was identified in the ACTA2 gene, resulting in generation of p.R179H. Finally, the girl was diagnosed with MSMDS combined with epilepsy. The patient had 4 episodes of seizures before treatment, and no onset of seizure was reported after oral administration of sodium valproate for 1 year. CONCLUSION MSMDS has a variety of clinical manifestations and unique cranial imaging features. Cerebrovascular injury and white matter injury may lead to seizures. Gene detection can confirm the diagnosis and prevent missed diagnosis or misdiagnosis.

Background: Previously, many genetic epidemiological studies have investigated associations between Th1-related cytokine polymorphisms and the risk of asthma, with inconsistent results. Accordingly, we carried out a meta-analysis to more precisely estimate associations between Th1-related cytokine polymorphisms and the risk of asthma. Methods: Systematic literature searching of Medline, Embase, Wanfang, VIP, and CNKI was conducted by the authors to identify eligible publications, and 69 genetic epidemiological studies were finally found to be eligible for quantitative analyses. Results: We found that genotypic frequencies of TNF-α-238G/A

Background: Several genetic epidemiological studies have already investigated associations between Th1-related cytokine polymorphisms and the risk of asthma, with inconsistent findings. Accordingly, the authors conducted a meta-analysis to more robustly assess associations between Th1-related cytokine polymorphisms and the risk of asthma by integrating the results of eligible literatures.Methods: A through literature searching in Medline, Embase, Wanfang, VIP and CNKI was conducted by the authors to identify eligible literatures, and sixty-nine genetic epidemiological studies were finally found to be eligible for integrated quantitative analyses.Results: We noticed that genotypic frequencies of TNF-α -238G/A (dominant comparison: OR=0.47, p=0.006; over-dominant comparison: OR=1.87, p=0.03; allele comparison: OR=0.50, p=0.004), TNF-α -308G/A (dominant comparison: OR=0.76, p=0.001; over-dominant comparison: OR=1.29, p=0.002; allele comparison: OR=0.81, p=0.0009) and IL-6 -174G/C (dominant comparison: OR=0.55, p=0.0008) polymorphisms among cases with asthma and population-based controls differed significantly. However, we did not detect such genotypic distribution difference for the IL-1B −511C/T polymorphism. Conclusions: The present meta-analysis shows that TNF-α -238G/A, TNF-α -308G/A and IL-6 -174G/C polymorphisms may affect the risk of asthma.

Major histocompatibility complex (MHC) II deficiency is a rare primary immunodeficiency disorder which is characterized by the deficiency of MHC class II molecules. The disease is caused by transcription factor mutations including class II transactivator (CIITA), regulatory factor X-5 (RFX5), RFX associated protein (RFXAP) and RFXAP containing ankyrin repeat (RFXANK), respectively. Mutations in the RFXANK gene account for more than 70% of all known patients worldwide. Herein, we reported a 10-month-old boy with MHC II deficiency caused by a novel mutation in RFXANK gene (c.337+1G>C) The boy was admitted to the hospital due to pneumonia and diarrhea at four months of age. Genetic analysis revealed a novel homozygous mutation in the RFXANK gene which derived from the c.337+1G>C heterozygous mutations in the RFXANK gene of his parents. The boy died 3 months after the diagnosis. More than 200 cases have been reported; and literature review revealed different mutation rates of four transcription factors in different countries or regions. This is the first case report of MHC II deficiency from East Asia. We also described all gene mutations which causing MHC II deficiency and epidemiology of MHC II deficiency with gene mutations in this paper.