Pediatric autoimmune enteropathy: An entity frequently associated with immunodeficiency disorders

Modern Pathology

Volumn 27, Issue 4, 2014, Pages 543-553

  Singhi, Aatur D ^a   Goyal, Alka ^b   Davison, Jon M ^a   Regueiro, Miguel D ^b   Roche, Robyn L ^a   Ranganathan, Sarangarajan ^a  

^a PRESBYTERIAN UNIVERSITY HOSPITAL   (United States)

^b UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

Author keywords

autoimmune enteropathy; celiac disease; crypt apoptosis; intractable diarrhea

Indexed keywords

AUTOANTIBODY; IMMUNOGLOBULIN; IMMUNOMODULATING AGENT; IMMUNOSUPPRESSIVE AGENT; STEROID;

ABSCESS; ACUTE CRYPTITIS; ADOLESCENT; APOPTOSIS; ARTICLE; AUTOIMMUNE DISEASE; CELIAC DISEASE; CHILD; CHRONIC DIARRHEA; CLINICAL ARTICLE; CRYPT ABSCESS; DISEASE ASSOCIATION; ENTEROPATHY; FEMALE; GASTROINTESTINAL BIOPSY; GOBLET CELL; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERPLASIA; IMMUNE DEFICIENCY; IMMUNOSUPPRESSIVE TREATMENT; INFANT; INFLAMMATION; INTESTINE ATRESIA; INTESTINE CRYPT; INTESTINE VILLUS; KIDNEY INJURY; LAMINA PROPRIA; LUNG GRANULOMATOSIS; LYMPHOCYTOSIS; LYMPHOMATOID GRANULOMATOSIS; MALE; MALNUTRITION; MONONUCLEAR CELL; NEWBORN; PANETH CELL; PEDIATRIC AUTOIMMUNE ENTEROPATHY; PRIORITY JOURNAL; SEPSIS; SMALL INTESTINE; TREATMENT RESPONSE; AUTOIMMUNITY; BIOPSY; DIARRHEA; DRUG EFFECTS; GASTROINTESTINAL TRACT; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOLOGY; INTESTINE CELL; MORTALITY; PATHOLOGY; POLYENDOCRINOPATHIES, AUTOIMMUNE; PREDICTIVE VALUE; PRESCHOOL CHILD; TREATMENT OUTCOME;

ADOLESCENT; AUTOANTIBODIES; AUTOIMMUNITY; BIOPSY; CHILD; CHILD, PRESCHOOL; DIARRHEA; ENTEROCYTES; FEMALE; GASTROINTESTINAL TRACT; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOSUPPRESSIVE AGENTS; INFANT; INFANT, NEWBORN; MALE; POLYENDOCRINOPATHIES, AUTOIMMUNE; PREDICTIVE VALUE OF TESTS; SEPSIS; TREATMENT OUTCOME;

EID: 84897477861     PISSN: 08933952     EISSN: 15300285     Source Type: Journal    
DOI: 10.1038/modpathol.2013.150     Document Type: Article

References (36)

1. Avery GB, Villavicencio O, Lilly JR, et al. Intractable diarrhea in early infancy. Pediatrics 1968;41: 712-722.
2. Goulet OJ, Brousse N, Canioni D, et al. Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases. J Pediatr Gastroenterol Nutr 1998;26:151-161.
3. Catassi C, Fabiani E, Spagnuolo MI, et al. Severe and protracted diarrhea: results of the 3-year SIGEP multicenter survey. Working Group of the Italian Society of Pediatric Gastroenterology and Hepatology (SIGEP). J Pediatr Gastroenterol Nutr 1999;29:63-68.
4. Unsworth DJ, Walker-Smith JA. Autoimmunity in diarrhoeal disease. J Pediatr Gastroenterol Nutr 1985;4:375-380.
5. Russo PA, Brochu P, Seidman EG, et al. Autoimmune enteropathy. Pediatr Dev Pathol 1999;2:65-71.
6. Montalto M, D'Onofrio F, Santoro L, et al. Autoimmune enteropathy in children and adults. Scand J Gastroenterol 2009;44:1029-1036.
7. Akram S, Murray JA, Pardi DS, et al. Adult autoimmune enteropathy: Mayo Clinic Rochester experience. Clin Gastroenterol Hepatol 2007;5:1282-1290; quiz 45.
8. Washington K, Stenzel TT, Buckley RH, et al. Gastrointestinal pathology in patients with common variable immunodeficiency and X-linked agammaglobulinemia. Am J Surg Pathol 1996;20:1240-1252.
9. Daniels JA, Lederman HM, Maitra A, et al. Gastrointestinal tract pathology in patients with common variable immunodeficiency (CVID): a clinicopathologic study and review. Am J Surg Pathol 2007;31: 1800-1812.
10. Lohr NJ, Molleston JP, Strauss KA, et al. Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease. Am J Hum Genet 2010;86:447-453.
11. Fisher SE, Boyle JT, Holtzapple P. Chronic protracted diarrhea and jejunal atrophy in an infant. Cimetidineassociated stimulation of jejunal mucosal growth. Dig Dis Sci 1981;26:181-186.
12. Unsworth J, Hutchins P, Mitchell J, et al. Flat small intestinal mucosa and autoantibodies against the gut epithelium. J Pediatr Gastroenterol Nutr 1982;1: 503-513.
13. Hill SM, Milla PJ, Bottazzo GF, et al. Autoimmune enteropathy and colitis: is there a generalised autoimmune gut disorder? Gut 1991;32:36-42.
14. Mirakian R, Richardson A, Milla PJ, et al. Protracted diarrhoea of infancy: evidence in support of an autoimmune variant. Br Med J (Clin Res Ed) 1986;293: 1132-1136.
15. Sanderson IR, Phillips AD, Spencer J, et al. Response to autoimmune enteropathy to cyclosporin A therapy. Gut 1991;32:1421-1425.
16. Moore L, Xu X, Davidson G, et al. Autoimmune enteropathy with anti-goblet cell antibodies. Hum Pathol 1995;26:1162-1168.
17. Bousvaros A, Leichtner AM, Book L, et al. Treatment of pediatric autoimmune enteropathy with tacrolimus (FK506). Gastroenterology 1996;111:237-243.
18. Bishu S, Arsenescu V, Lee EY, et al. Autoimmune enteropathy with a CD8\+ CD7-T-cell small bowel intraepithelial lymphocytosis: case report and literature review. BMC Gastroenterol 2011;11:131.
19. Oliva-Hemker MM, Loeb DM, Abraham SC, et al. Remission of severe autoimmune enteropathy after treatment with high-dose cyclophosphamide. J Pediatr Gastroenterol Nutr 2003;36:639-643.
20. Walker-Smith JA, Unsworth DJ, Hutchins P, et al. Autoantibodies against gut epithelium in child with small-intestinal enteropathy. Lancet 1982;1:566-567.
21. Savilahti E, Pelkonen P, Holmberg C, et al. Fatal unresponsive villous atrophy of the jejunum, connective tissue disease and diabetes in a girl with intestinal epithelial cell antibody. Acta Paediatr Scand 1985;74:472-476.
22. Mitton SG, Mirakion R, Larcher VF, et al. Enteropathy and renal involvement in an infant with evidence of widespread autoimmune disturbance. J Pediatr Gastroenterol Nutr 1989;8:397-400.
23. Skogh T, Heuman R, Tagesson C. Anti-brush border antibodies (ABBA) in Crohn's disease. J Clin Lab Immunol 1982;9:147-150.
24. Martin-Villa JM, Camblor S, Costa R, et al. Gut epithelial cell autoantibodies in AIDS pathogenesis. Lancet 1993;342:380.
25. Biagi F, Bianchi PI, Trotta L, et al. Anti-goblet cell antibodies for the diagnosis of autoimmune enteropathy? Am J Gastroenterol 2009;104:3112.
26. Folwaczny C, Noehl N, Tschop K, et al. Goblet cell autoantibodies in patients with inflammatory bowel disease and their first-degree relatives. Gastroenterology 1997;113:101-106.
27. McCarthy DM, Katz SI, Gazze L, et al. Selective IgA deficiency associated with total villous atrophy of the small intestine and an organ-specific anti-epithelial cell antibody. J Immunol 1978;120:932-938.
28. Murch SH, Fertleman CR, Rodrigues C, et al. Autoimmune enteropathy with distinct mucosal features in T-cell activation deficiency: the contribution of T cells to the mucosal lesion. J Pediatr Gastroenterol Nutr 1999;28:393-399.
29. Catassi C, Mirakian R, Natalini G, et al. Unresponsive enteropathy associated with circulating enterocyte autoantibodies in a boy with common variable hypogammaglobulinemia and type I diabetes. J Pediatr Gastroenterol Nutr 1988;7:608-613.
30. Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 1999;92:34-48.
31. Deane S, Selmi C, Naguwa SM, et al. Common variable immunodeficiency: etiological and treatment issues. Int Arch Allergy Immunol 2009;150:311-324.
32. Patey-Mariaud de Serre N, Canioni D, Ganousse S, et al. Digestive histopathological presentation of IPEX syndrome. Mod Pathol 2009;22:95-102.
33. Michels AW, Gottlieb PA. Autoimmune polyglandular syndromes. Nat Rev Endocrinol 2010;6:270-277.
34. Su J, Liu YC. Foxp3 positive regulatory T cells: a functional regulation by the E3 ubiquitin ligase Itch. Semin Immunopathol 2010;32:149-156.
35. Carter CR, Aravind G, Smalle NL, et al. CVID patients with autoimmunity have elevated T cell expression of granzyme B and HLA-DR and reduced levels of Treg cells. J Clin Pathol 2013;66:146-150.
36. Liu J, Farmer JD Jr., Lane WS, et al. Calcineurin is a common target of cyclophilin-cyclosporin A and FKBP-FK506 complexes. Cell 1991;66:807-815.