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Review
. 2022 Feb;114(1):32-39.
doi: 10.32074/1591-951X-339. Epub 2021 Dec 2.

Pediatric autoimmune disorders with gastrointestinal expressions: from bench to bedside

Paola Francalanci  1 , Barbara Cafferata  1 , Rita Alaggio  1 , Paola de Angelis  2 , Antonella Diamanti  3 , Paola Parente  4 , Massimo Granai  5 , Stefano Lazzi  6
Affiliations
Review

Pediatric autoimmune disorders with gastrointestinal expressions: from bench to bedside

Paola Francalanci et al. Pathologica. 2022 Feb.

Abstract

The gastrointestinal (GI) tract may be involved in systemic autoimmune diseases or may be the target of organ-specific autoimmunity. Autoimmune enteropathy (AIE) is a rare disorder characterized by severe and protracted diarrhea, weight loss from malabsorption and immune-mediated damage to the intestinal mucosa, generally occurring in infants and young children, only rarely in adult. The salient histopathologic features of AIE are most prominent in the small intestine: villous blunting, crypt hyperplasia, mononuclear cell inflammatory expansion of the lamina propria with intraepithelial lymphocytosis, crypt apoptosis and absence of Paneth cells, goblet cells or both. Esophagus, stomach and colon are frequently also involved. Anti-enterocyte antibodies are identified in the majority of cases, and their presence, even if variable, can help confirming the diagnosis.

The purpose of this review is to provide an overview of the latest immunological advances in AIE, as well as to offer a practical approach for histological diagnosis for 'general' pathologist.

Keywords: autoantibody; autoimmune disease; autoimmune enteropathy (AIE); large bowel; pediatric disease; small bowel.

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Conflict of interest statement

Conflict of interest

The Authors declare no conflict of interest.

Figures

Figure 1.
Figure 1.
Duodenal biopsy from a 4-month-old boy with AIE. A) Marked mucosal crypt-destructive inflammatory infiltrate with villous atrophy (H&E, 4x). B) Significant reduction of goblet and Paneth cells (H&E, 20x). C) Increased basal crypt apoptosis (H&E, 40x). D) CD3 immunostaining shows few intraepithelial T-lymphocytes (20x), in the inset CD3 immunostaining in celiac disease displays > 25/10 T-lymphocytes/enterocytes (20x).
Figure 2.
Figure 2.
Gastric biopsy from a 4-month-old boy with AIE showing chronic gastritis (A, H&E, 10x) and chronic quiescent colitis (B, H&E, 10x).
Figure 3.
Figure 3.
Indirect immunofluorescence using serum from a 4-month-old boy with AIE syndrome on frozen sections of normal human small bowel. There is diffuse linear staining along the apical border of the enterocytes all along the villi (20x).
See this image and copyright information in PMC

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References

    1. Pituch-Noworolska A, Mach-Tomalska M. Autoimmunity of gastrointestinal tract immunopathogenesis and immune-based therapy for selected autoimmune disorders. Mourad Aribi, ed. Intech Open March 22nd 2017. https://doi.org/10.5772/63032 10.5772/63032 - DOI
    1. Cojocaru M, Cojocaru IM, Silosi I, et al. . Gastrointestinal manifestations in systemic autoimmune diseases. Maedica (Bucur) 2011;6:45-51. - PMC - PubMed
    1. Unsworth DJ, Walker-Smith JA. Autoimmunity in diarrhoeal disease. J Pediatr Gastroenterol Nutr 1985;4:375-380. https://doi.org/10.1097/00005176-198506000-00009 10.1097/00005176-198506000-00009 - DOI - PubMed
    1. Ensari A, Kelsen J, Russo P. Newcomers in paediatric GI pathology: childhood enteropathies including very early onset monogenic IBD. Virchows Arch 2018;472:111-123. https://doi.org/10.1007/s00428-017-2197-9 10.1007/s00428-017-2197-9 - DOI - PMC - PubMed
    1. Rossi C, Simoncelli G, Arpa G, et al. . Histopathology of intestinal villi in neonatal and paediatric age: main features with clinical correlation Part I. Pathologica 2021. Epub December 2. https://doi.org/10.32074/1591-951X-337 10.32074/1591-951X-337 - DOI - PMC - PubMed