Blanco Quirós A, Arranz Sanz E, Bernardo Ordiz D, Garrote Adrados J A
Department of Pediatrics and Immunology, IBGM, University of Valladolid, Spain.
Allergol Immunopathol (Madr). 2009 Jul-Aug;37(4):208-15. doi: 10.1016/j.aller.2009.04.002. Epub 2009 Aug 26.
The term autoimmune enteropathy (AIE) was applied to a form of "intractable diarrhoea" with serum gut autoantibodies, characterized by male predominance, early onset, poor response to parenteral nutrition and several autoimmune diseases, mainly type 1 diabetes. In recent years the vague concept of AIE has became more precise thanks to the discovery of its genetic and molecular basis. The FOXP3 molecule is crucial for the generation and maturation of regulatory T cells (Treg) expressing CD4+ and CD25+ molecules. Mutations of the FOXP3 gene, located in X chromosome, produce a syndrome with Immune dysfunction, Polyendocrinopathy, Enteropathy and X-linked inheritance (IPEX). The majority of the ancient so-called AIE cases probably correspond to the new IPEX syndrome, even in female patients who may have some autosomal genetic variants. Besides FOXP3, other molecules are likely to be involved in the generation and function of Treg and its deficiency may also enhance autoimmune disease and IPEX-like syndromes. Meanwhile, the important pathogenic role previously ascribed to gut autoantibodies has vanished, with it remaining as having only certain screening usefulness.
自身免疫性肠病（AIE）这一术语用于描述一种伴有血清肠道自身抗体的“顽固性腹泻”，其特征为男性居多、发病早、对肠外营养反应不佳以及多种自身免疫性疾病，主要是1型糖尿病。近年来，由于发现了其遗传和分子基础，AIE这一模糊的概念变得更加精确。FOXP3分子对于表达CD4 +和CD25 +分子的调节性T细胞（Treg）的产生和成熟至关重要。位于X染色体上的FOXP3基因突变会产生一种具有免疫功能障碍、多内分泌腺病、肠病和X连锁遗传（IPEX）的综合征。大多数过去所谓的AIE病例可能对应于新的IPEX综合征，即使在可能具有某些常染色体遗传变异的女性患者中也是如此。除了FOXP3之外，其他分子可能也参与了Treg的产生和功能，其缺陷也可能会加重自身免疫性疾病和类IPEX综合征。与此同时，先前归因于肠道自身抗体的重要致病作用已不复存在，其仅保留一定的筛查用途。
