BACKGROUND Immune dysregulation,polyendocrinopthy,enteropathy,X-linked(IPEX)syndrome is a rare X-linked recessive disease caused by mutations in the forkhead box protein 3(FOXP3)gene,which is a master transcriptional ...BACKGROUND Immune dysregulation,polyendocrinopthy,enteropathy,X-linked(IPEX)syndrome is a rare X-linked recessive disease caused by mutations in the forkhead box protein 3(FOXP3)gene,which is a master transcriptional regulator for the development and function of CD4+CD25+regulatory T(Treg)cells.The dysfunction of these cells leads to multiple system autoimmune diseases.We present a case of IPEX due to a mutation not reported in the literature before.CASE SUMMARY We report a male patient with IPEX syndrome who presented with refractory diarrhea and malabsorption leading to failure to thrive,as well as with hypothyroidism and nephrotic syndrome.Laboratory investigation showed increased total IgE and Treg cells,decreased free triiodothyronine(FT3)and free thyroxine(FT4),and proteinuria.Multiple dietary and supportive treatments were introduced but did not improve the diarrhea during his hospital stay.Ultimately,whole exome sequencing revealed that the patient was hemizygous for the exon 5,c.542G>A(p.Ser181Asn)mutation of the FOXP3 gene,which has not been previously reported.The patient remains on prednisone and euthyrox while awaiting hematopoietic stem cell transplantation at the time of the compilation of this case report.CONCLUSION We report a novel FOXP3 gene mutation involved in IPEX.A high level of suspicion should be maintained in an early-onset refractory diarrhea patient.展开更多
目的探讨梅毒患者外周血单个核细胞(PBMCs)中转录因子FOXP3 m RNA的表达水平。方法采用反转录聚合酶链式反应(RT-PCR)方法检测70例未治疗的梅毒患者PBMCs中转录因子FOXP3 m RNA的表达进行相关性分析,以20例健康志愿者作为正常对照。结...目的探讨梅毒患者外周血单个核细胞(PBMCs)中转录因子FOXP3 m RNA的表达水平。方法采用反转录聚合酶链式反应(RT-PCR)方法检测70例未治疗的梅毒患者PBMCs中转录因子FOXP3 m RNA的表达进行相关性分析,以20例健康志愿者作为正常对照。结果血清固定组梅毒患者外周血中FOXP3 m RNA表达较正常对照组增高,差异有统计学意义(t=7.86,P<0.01)。而潜伏梅毒患者、妊娠梅毒、RPR阴转组患者外周血中FOXP3 m RNA表达与正常对照组比较差异无统计学意义(t分别为0.99,0.10,0.06,P>0.05)。结论梅毒患者外周血中FOXP3 m RNA表达增高造成的免疫抑制可能在梅毒血清固定的发生中起着一定的作用。展开更多
AIM: To study the biological and clinical characteristics of transcription factor forkhead box protein 3 (FOXP3) in hepatocellular carcinoma (HCC). METHODS: We analyzed the expression and localization of FOXP3 in HCC ...AIM: To study the biological and clinical characteristics of transcription factor forkhead box protein 3 (FOXP3) in hepatocellular carcinoma (HCC). METHODS: We analyzed the expression and localization of FOXP3 in HCC tissues and cell lines to evaluate its biological features. The relationship between FOXP3 staining and clinical risk factors of HCC was assessedto identify the clinical characteristics of FOXP3 in HCC. RESULTS: The mRNA and protein expression of FOXP3 were found in some hepatoma cell lines. Immunohistochemical (IHC) analysis of HCC sections revealed that 48% of HCC displayed FOXP3 staining, but we did not find any FOXP3 staining in normal liver tissues and para-tumor tissues. IHC and Confocal analysis showed that the expressions of FOXP3 were mainly present in the nucleus and cytoplasm of tumor cells in tissues or cell lines. In HCC, the distribution of FOXP3 was similar to that of the cirrhosis, but not to the hepatitis B virus. Those findings implicate that FOXP3 staining seems to be associated with the high risk of HCC. CONCLUSION: The clinical characteristics of FOXP3 in HCC warrants further studies to explore its functions and roles in the cirrhosis and development of HCC.展开更多
文摘BACKGROUND Immune dysregulation,polyendocrinopthy,enteropathy,X-linked(IPEX)syndrome is a rare X-linked recessive disease caused by mutations in the forkhead box protein 3(FOXP3)gene,which is a master transcriptional regulator for the development and function of CD4+CD25+regulatory T(Treg)cells.The dysfunction of these cells leads to multiple system autoimmune diseases.We present a case of IPEX due to a mutation not reported in the literature before.CASE SUMMARY We report a male patient with IPEX syndrome who presented with refractory diarrhea and malabsorption leading to failure to thrive,as well as with hypothyroidism and nephrotic syndrome.Laboratory investigation showed increased total IgE and Treg cells,decreased free triiodothyronine(FT3)and free thyroxine(FT4),and proteinuria.Multiple dietary and supportive treatments were introduced but did not improve the diarrhea during his hospital stay.Ultimately,whole exome sequencing revealed that the patient was hemizygous for the exon 5,c.542G>A(p.Ser181Asn)mutation of the FOXP3 gene,which has not been previously reported.The patient remains on prednisone and euthyrox while awaiting hematopoietic stem cell transplantation at the time of the compilation of this case report.CONCLUSION We report a novel FOXP3 gene mutation involved in IPEX.A high level of suspicion should be maintained in an early-onset refractory diarrhea patient.
文摘目的探讨梅毒患者外周血单个核细胞(PBMCs)中转录因子FOXP3 m RNA的表达水平。方法采用反转录聚合酶链式反应(RT-PCR)方法检测70例未治疗的梅毒患者PBMCs中转录因子FOXP3 m RNA的表达进行相关性分析,以20例健康志愿者作为正常对照。结果血清固定组梅毒患者外周血中FOXP3 m RNA表达较正常对照组增高,差异有统计学意义(t=7.86,P<0.01)。而潜伏梅毒患者、妊娠梅毒、RPR阴转组患者外周血中FOXP3 m RNA表达与正常对照组比较差异无统计学意义(t分别为0.99,0.10,0.06,P>0.05)。结论梅毒患者外周血中FOXP3 m RNA表达增高造成的免疫抑制可能在梅毒血清固定的发生中起着一定的作用。
基金the colleagues from the Department of Pathology of Xijing Hospital of Fourth Military Medical University for their excellent technical support
文摘AIM: To study the biological and clinical characteristics of transcription factor forkhead box protein 3 (FOXP3) in hepatocellular carcinoma (HCC). METHODS: We analyzed the expression and localization of FOXP3 in HCC tissues and cell lines to evaluate its biological features. The relationship between FOXP3 staining and clinical risk factors of HCC was assessedto identify the clinical characteristics of FOXP3 in HCC. RESULTS: The mRNA and protein expression of FOXP3 were found in some hepatoma cell lines. Immunohistochemical (IHC) analysis of HCC sections revealed that 48% of HCC displayed FOXP3 staining, but we did not find any FOXP3 staining in normal liver tissues and para-tumor tissues. IHC and Confocal analysis showed that the expressions of FOXP3 were mainly present in the nucleus and cytoplasm of tumor cells in tissues or cell lines. In HCC, the distribution of FOXP3 was similar to that of the cirrhosis, but not to the hepatitis B virus. Those findings implicate that FOXP3 staining seems to be associated with the high risk of HCC. CONCLUSION: The clinical characteristics of FOXP3 in HCC warrants further studies to explore its functions and roles in the cirrhosis and development of HCC.
