A 75-kD autoantigen recognized by sera from patients with X-linked autoimmune enteropathy associated with nephropathy

Abstract

Autoimmune enteropathy (AIE) is a rare disorder characterized by intractable diarrhoea and antienterocyte autoantibody. In this study, we detected a 75-kD autoantigen which distributed through the whole intestine and the kidney, as assessed by Western blot analysis using sera from two unrelated cases of AIE associated with nephropathy. Our results suggest that the detection of the autoantibody against the 75-kD antigen has a diagnostic value in AIE and that the autoimmune reaction against the 75-kD antigen may be implicated in the development of intestinal and renal tissue damage in this rare disorder.

Digestive histopathological presentation of IPEX syndrome

“…Characteristic antibodies against enterocytes or goblet cells and particularly the antibodies against the 75 kDa autoantigen can help to confirm the diagnosis of autoimmune enteropathy in IPEX syndrome. 21,22 Therefore, on the basis of this, we wanted to evaluate and describe the intestinal morphological changes in a well-characterized population of 12 children in whom IPEX syndrome was confirmed by a molecular analysis.…”

Dermatologic and Immunologic Findings in the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome

“…Serum was negative for antibodies to the AIE-75 intestinal antigen. 18,19 Pimecrolimus (0.1%) cream applied twice daily for 1 month was ineffective, but a retrial of an ultrapotent topical corticosteroid (clobetasol propionate) was successful with consistent therapy.…”

“…Since then, additional kindreds have been identified, and other observed features include hypothyroidism, hemolytic anemia, enteritis due to antienterocyte antibodies, increased incidence of infections, hemolytic anemia, food allergy, elevated IgE levels, and nephropathy. 1,[4][5][6][7][8]10,11,18,19 Recently, mutations of FOXP3, which encodes scurfin, a DNA-binding protein involved in the generation of regulatory T cells, were identified in several IPEX families. [11][12][13][14] Prior to this discovery, a naturally occurring mutation of FOXP3 was identified in the scurfy mutant mouse.…”

“…4 In a Japanese child with IPEX, diarrhea was transiently controlled with cyclosporine though long-term control was achieved only with combined betamethasone and tacrolimus treatment. 5,14,18,19,26 Allogeneic bone marrow transplantation has been used with mixed results (Table). Interestingly, the symptoms of IPEX in transplantation patient 1 remained controlled even when donor engraftment declined to 28%.…”

Entéropathies immunes et auto-immunes

“…Une caractérisation par Western blot a montré que les autoantigènes sont de 55 [17] ou 75 kDa [18,19] L'autoantigène de 75 kDa est exprimé dans l'intestin grêle, le côlon, le pancréas et les reins [20] . Avec le traitement (envisagé plus bas), les titres d'anticorps anti-entérocytes circulants diminuent ou disparaissent progressivement et totalement, tandis que la situation clinique s'améliore.…”