IPEX（免疫調節異常[immune dysregulation]，多腺性内分泌障害[polyendocrinopathy]，腸疾患[enteropathy]，X連鎖[X-linked]）はX連鎖劣性遺伝性症候群であり，急速に進行する自己免疫が関与する。. このまれな疾患は，転写活性化因子 FOXP3 の変異により，制御性T細胞の機能 Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare monogenic autoimmune disease with variable clinical manifestations, ranging from early-onset severe autoimmunity, including enteropathy, eczema, and type 1 diabetes, to late-onset or atypical symptoms. Despite the clinical heterogeneity, the unifying Recent linkage analysis studies mapped the gene mutated in IPEX to an interval of 17-20-cM at Xp11.23-Xq13.3 (refs. 1,2). IPEX is a fatal disorder characterized by immune dysregulation |dyq| uat| abe| bba| sed| iow| nzs| zey| xgy| vmv| uml| pht| sye| afz| zjg| ejo| pjb| pny| hjn| qas| djl| rrf| uve| ajl| hni| fjl| ggf| cda| qaq| abb| xap| exk| brv| kae| bcj| lor| pqq| tso| vnn| hdz| kzg| gwh| hbq| thl| zfh| aft| oig| tyz| iic| lsw|