Study On Intestinal Flora And Thymus-derived Regulatory T Cells Of IBD Caused By WASp Deficiency And Alstrom Syndrome:A Case Report

Part ? Study on Intestinal Flora and Thymus-derived Regulatory T Cells of IBD Caused by WASp DeficiencyObjective: To determine the composition of gut microbiota in WAS-deficient children and WASp-deficient mice and to explore whether they are different from the normal control intestinal flora.We want to explore the changes of intestinal t Treg cells in the inflammation of WASp-deficient mice.Methods: The stool specimens of WAS children and WASp-deficient mice older than 6 months were collected and the stool DNA was extracted.Based on the 16 s rRNA gene sequence,the intestinal flora was amplified against V4 and V5 regions,and the dominant sequences were screened.The intestinal flora was sequenced and the diversity of intestinal flora was analyzed.The intestine lymph node cells in each layer of WKO mice were extracted and flow cytometry was used to detect intestinal thymus-derived regulatory T cells.Results: The diversity of intestinal flora in children with WAS was different from that of normal children.When the WAS protein was defective,it shared its own OTU,in addition to the normal OTU.Proteobacteria in the intestinal microflora of children with WAS predominated,whereas the level of Bacteroidetes decreased.The level of thick-walled bacteria in WKO mice declined.In the WKO mouse model,there were more colonic tTreg than wild type,but the Foxp3 expression level was decreased,but this phenomenon was not observed in the small intestine,indicating that tTreg is mainly affected by colonic microbial flora.Conclusions: In this study,it was found that in the case of inflammation of the intestinal flora,or in the case of inflammatory bowel disease caused by defects in the host's genetic background,the intestinal microflora did change,and the changes were concentrated in common categories.Colonic tTreg levels may be affected by intestinal flora.Part ? Alstrom Syndrome: a Case Report Objective: To investigate the possible immunomodulatory changes in patients with Alzheimer's disease by analyzing the clinical manifestations of a child with suspected Alstrom syndrome and analysis of peripheral blood lymphocytes.Methods: The history of children was collected and their condition was analyzed.Peripheral blood was collected from the children and DNA was extracted and verified by one-generation sequencing.Peripheral blood lymphocytes were extracted and flow cytometric analysis was performed to analyze changes in lymphocyte subsets.Results: There were repeated infections after birth in this patient.Although there were systemic multiple organ lesions,the classic clinical phenotype of Alstrom syndrome was not demonstrated.Gene sequencing revealed that there was ALMS1 mutation in the patient and there were two mutation sites.The study monitored the lymphocyte immune phenotype in this patient and found that the number of B cells in this patient was decreased,which may be the reason for the repeated infection of the child.Conclusions: Alstrom syndrome is generally characterized by multiple organ metabolism disorders.The immune system abnormality occurs in this case.Therefore,the mutation type and regulatory mechanism of ALMS1 need to be further explored.