A Novel RFXANK Mutation in a Chinese Child With MHC II Deficiency: Case Report and Literature Review.

Major histocompatibility complex (MHC) II deficiency is a rare primary immunodeficiency disorder that 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 >70% of all known patients worldwide. Herein, we reported a 10-month-old boy with MHC II deficiency caused by a novel mutation in the RFXANK gene (c.337 + 1G>C). The boy was admitted to the hospital due to pneumonia and diarrhea at 4 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 diagnosis. More than 200 cases have been reported, and a review of the literature revealed different mutation rates of 4 transcription factors in different countries or regions. This is the first case report of MHC II deficiency from East Asia. We also describe all gene mutations that cause MHC II deficiency and the epidemiology of MHC II deficiency with gene mutations in this paper.

Sonic hedgehog (Shh) and CC chemokine ligand 2 signaling pathways in asthma.

Asthma is a chronic inflammatory disease of the airways in which many cells are involved, including mast cells, eosinophils, T lymphocytes, and so on. During the process, many chemokines and mediators are released to engage in recruiting and activating eosinophils and other inflammatory cells. Also, some signaling pathways are involved in the pathobiology of asthma. Sonic hedgehog (Shh) is one of the members of hedgehog gene families. Shh signaling plays a critical role in the embryonic development, including the lung. Previous findings from our team reveal that Shh is involved in the asthma pathogenesis. Recombinant Shh could induce the CC chemokine ligand 2 (CCL2) overexpressing and Smo inhibitor GDC-O449 could inhibit CCL2 expression in airway epithelial cells, monocytes, or macrophages. Hence, we reviewed the effects of Shh and CCL2 signaling pathways, and the interaction between signaling pathways in asthma.

Relationship Between Immune Parameters and Non-alcoholic Fatty Liver Disease in Obese Children.

OBJECTIVE: To investigate the relationship between immune parameters and non-alcoholic fatty liver disease (NAFLD) in obese children. DESIGN: Cross-sectional study. SETTING: Hospital-based study in Zhejiang Province, China between July to September 2015. PARTICIPANTS: A total of 117 obese children and 209 healthy non-obese children were studied as the obese and control groups. Depending on the severity of NAFLD, the obese group was divided into subgroups 1 (without NAFLD), 2 (with simple fatty liver) and 3 (with steatohepatitis). OUTCOME MEASURES: Glucose metabolism, lipid metabolism and immune parameters. RESULTS: In the obese group, body mass index (BMI), waist-and hip-circumferences, fasting insulin, Homeostasis model of assessment for insulin resistance (HOMA-IR), triglyceride, total cholesterol, low density lipoprotein cholesterol (LDL-C), apolipoprotein (Apo)B/ApoA1, alanine aminotransferase, uric acid, white blood cells, neutrophils percentage, platelet and interleukin (IL)-6 were significantly higher than those in the controls (P<0.05), while lower high density lipoprotein cholesterol and lymphocyte percentage were noted (P<0.05). IL-10 in the subgroup 3 was higher than those in the control group, subgroup 1 and 2 (P<0.05). Logistic regression analysis showed that BMI, LDL-C, HOMA-IR and IL-10 were independent factors of NAFLD (P<0.05). CONCLUSION: These results support a low-grade chronic inflammation in obese children. Moreover, obesity, dyslipidaemia and IR are risk factors while IL-10 may be a protective factor for NAFLD.