Enteropathy with loss of enteroendocrine and Paneth cells in a patient with immune dysregulation: a case of adult autoimmune enteropathy

Digestive histopathological presentation of IPEX syndrome

“…The number of intraepithelial lymphocytes can be significantly increased in the duodenum, stomach and colon. [17][18][19][20] Typically, patients with an autoimmune enteropathy develop circulating anti-enterocyte antibodies; however, as recently reviewed, the presence of these antibodies is of secondary nature, an accessory finding rather than pathogenic. 20 In various pathologies, the intestinal architecture can be preserved, and intraepithelial lymphocytes are not increased but goblet cells, Paneth cells and endocrine cells may be absent.…”

“…20 In various pathologies, the intestinal architecture can be preserved, and intraepithelial lymphocytes are not increased but goblet cells, Paneth cells and endocrine cells may be absent. 18 Finally, some patients presenting with autoimmune enteropathy show a combination of these patterns. 18 However, all these inflammatory changes are known to be nonspecific and do not allow to discriminate histologically autoimmune enteropathies from other inflammatory disorders.…”

“…18 Finally, some patients presenting with autoimmune enteropathy show a combination of these patterns. 18 However, all these inflammatory changes are known to be nonspecific and do not allow to discriminate histologically autoimmune enteropathies from other inflammatory disorders. 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.…”

“…It is important to emphasize that these lesions are not specific for IPEX or non-IPEX autoimmune enteropathies, as already exemplified by the nomenclature, because true graft-vs-host disease, coeliac-like disease and intestinal goblet cell autoantibody enteropathy are entities. 18 However, these histological changes are very distinct from those of inflammatory bowel disease (eg, ulcerative colitis and Crohn's disease). Whenever autoimmune enteropathy is suspected in a patient, especially in infants with severe protracted diarrhoea, the detection of circulating anti-enterocyte or anti-goblet cell antibodies should be combined with the histological analysis to rapidly orient the diagnosis.…”

“…18 These antibodies are usually not considered to be specific. However, circulating antibodies directed against the brush border have been described either in coeliac disease or in other inflammatory bowel diseases; their detection is simple, and appears to be specific and highly sensitive in the diagnosis of autoimmune enteropathy in IPEX syndrome.…”