Autoimmune enteropathy in children and adults

References

• Corazza GR, Biagi F, Volta U, Andreani ML, De Franceschi L, Gasbarrini G. Autoimmune enteropathy and villous atrophy in adults. Lancet 1997; 350: 106–9
   PubMed Web of Science ®Google Scholar
• Mais DD, Mulhall BP, Adolphson KR, Yamamoto K. Thymoma-associated autoimmune enteropathy. A report of two cases. Am J Clin Pathol 1999; 112: 810–5
   PubMed Web of Science ®Google Scholar
• Daum S, Sahin E, Jansen A, Heine B, Riecken EO, Zeitz M, et al. Adult autoimmune enteropathy treated successfully with tacrolimus. Digestion 2003; 68: 86–90
   PubMed Web of Science ®Google Scholar
• Carroccio A, Volta U, Di Prima L, Petrolini N, Florena AM, Averna MR, et al. Autoimmune enteropathy and colitis in an adult patient. Dig Dis Sci 2003; 48: 1600–6
   PubMed Web of Science ®Google Scholar
• Leòn F, Olivencia P, Rodriguez-Pena R, Sanchez L, Redondo C, Alvarez I, et al. Clinical and immunological features of adult-onset generalized autoimmune gut disorder. Am J Gastroenterol 2004; 99: 1563–71
   PubMed Web of Science ®Google Scholar
• Rolny P, Sigurjonsdottir HA, Remoti H, Nilsson LA, Ascher H, Tlaskalova-Hogenova H, et al. Role of immunosuppressive therapy in refractory sprue-like disease. Am J Gastroenterol 1999; 94: 219–25
   PubMed Web of Science ®Google Scholar
• Akram S, Murray JA, Pardi DS, Alexander GL, Schaffner JA, Russo PA, et al. Adult autoimmune enteropathy: Mayo Clinic Rochester experience. Clin Gastroenterol Hepatol 2007; 5: 1282–90
   PubMed Web of Science ®Google Scholar
• Mitomi H, Tanabe S, Igarashi M, Katsumata T, Arai N, Kikuchi S, et al. Autoimmune enteropathy with severe atrophic gastritis and colitis in an adult: proposal of a generalized autoimmune disorder of the alimentary tract. Scand J Gastroenterol 1998; 33: 716–20
   PubMed Web of Science ®Google Scholar
• Walker-Smith JA, Unsworth DJ, Hurchins P, Phillips AD, Holborow EJ. Autoantibodies against gut epithelium in child with small intestinal enteropathy. Lancet 1982; 319: 566–7
   Google Scholar
• McCarthy DM, Katz SI, Gazze L, Waldmann TA, Nelson DL, Strober W. Selective IgA deficiency associated with total villous atrophy of the small intestine and an organ-specific anti-epithelial cell antibody. J Immunol 1978; 120: 932–8
   PubMed Web of Science ®Google Scholar
• Van Thiel DH, Smith WI, Jr, Rabin BS, Fisher SE, Lester R. A syndrome of Immunoglobulin A deficiency, diabetes mellitus, malabsorption and a common HLA haplotype. Ann Int Med 1977; 86: 10–9
   PubMed Web of Science ®Google Scholar
• Powell BR, Buist NRM, Stenzel P. An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. J Pediatr 1982; 100: 731–7
   PubMed Web of Science ®Google Scholar
• Catassi, C, Fabiani, E, Spagnuolo, MI, Barera, G, Guarino, A, and the Working Group of the Italian Society of Pediatric Gastroenterology and Hepatology (SIGEP). Severe and protracted diarrhea: results of the 3-year SIGEP multicenter survey. J Ped Gastroenterol Nutr 1999;29:63–8.
   PubMed Web of Science ®Google Scholar
• Goulet OJ, Brousse N, Canioni D, Walker-Smith JA, Schmitz J, Phillips AD. Syndrome of intractable diarrhea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases. J Pediatr Gastroenterol Nutr 1998; 26: 151–61
   PubMed Web of Science ®Google Scholar
• Bland P. MHC class II expression by the gut epithelium. Immunol Today 1988; 9: 174–8
   PubMedGoogle Scholar
• Kaiserlian D, Vidal K, Revillard JP. Murine enterocytes can present soluble antigen to specific class II-restricted CD4+ T cells. Eur J Immunol 1989; 10: 396–7
   Google Scholar
• Meyer L, Shlien R. Evidence for function of Ia molecules on gut epithelial cells in man. J Exp Med 1987; 166: 1471–83
   PubMed Web of Science ®Google Scholar
• Bottazzo GF, Todd I, Mirakian R, Belfiore A, Pujol-Borrell R. Organ-specific autoimmunity: a 1986 overview. Immunol Rev 1986; 94: 137–69
   PubMed Web of Science ®Google Scholar
• Londei M, Lamb JR, Bottazzo GF, Feldmann M. Epithelial cells expressing aberrant MHC class II determinants can present antigen to cloned human T cells. Nature 1984; 312: 639–41
   PubMed Web of Science ®Google Scholar
• Mirakian R, Hill S, Richardson A, Milla PJ, Walker-Smith JA, Bottazzo GF. HLA product expression and lymphocyte subpopulation in jejunum biopsies of children with idiopathic protracted diarrhoea and enterocyte autoantibodies. J Autoimmun 1988; 1: 263–77
   PubMed Web of Science ®Google Scholar
• Cuenod B, Brousse N, Goulet O, De Potter S, Mougenot JF, Ricour C, et al. Classification of intractable diarrhea in infancy using clinical and immunohistological criteria. Gastroenterology 1990; 99: 1037–43
   PubMed Web of Science ®Google Scholar
• Moore L, Xu X, Davidson G, Moore D, Carli M, Ferrante A. Autoimmune enteropathy with anti-goblet cell antibodies. Human Pathol 1995; 26: 1162–8
   PubMed Web of Science ®Google Scholar
• Lachaux A, Loras-Duclaux I, Bouvier R. Autoimmune enteropathy in infants: pathological study of the disease in two familial cases. Virchows Arch 1998; 433: 481–5
   PubMed Web of Science ®Google Scholar
• Yamamoto H, Sugiyama K, Nomura T, Taki M, Okazaki T. A case of intractable diarrhea firmly suspected to have autoimmune enteropathy. Acta Paediatr Jpn 1994; 36: 97–103
   PubMedGoogle Scholar
• Guy-Grand D, Vassalli P. Gut injury in mouse graft-versus-host reaction. Study of its occurrence and mechanisms. J Clin Invest 1986; 77: 1584–95
   PubMed Web of Science ®Google Scholar
• Mowat A McI, Ferguson A. Hypersensitivity reactions in the small intestine. 6. Pathogenesis of the graft-versus-host reaction in the small intestinal mucosa of the mouse. Transplantation 1981; 32: 238–43
   PubMed Web of Science ®Google Scholar
• Mowat A McI, Borland A, Parrott DMV. Hypersensitivity reactions in the small intestine. VII. Induction of the intestinal phase of murine graft-versus-host reactions by lyt.2− T cells activated by Ia alloantigens. Transplantation 1986; 41: 192–7
   PubMed Web of Science ®Google Scholar
• Ciccocioppo R, D'Alò S, Di Sabatino A, Parroni R, Rossi M, Doglioni C, et al. Mechanisms of villous atrophy in autoimmune enteropathy and coeliac disease. Clin Exp Immunol 2002; 128: 88–93
   PubMed Web of Science ®Google Scholar
• Pullen AM, Marrack P, Kappler JW. The T cell repertoire is heavily influenced by tolerance to polymorphic self antigens. Nature 1988; 335: 796–801
   PubMed Web of Science ®Google Scholar
• Martìn-Villa JM, Regueiro JR, De Juan D, Pérez-Aciego P, Pérez Blas M, Manzanares J, et al. T-lymphocyte dysfunctions occurring together with apical gut epithelial cell autoantibodies. Gastroenterology 1991; 101: 390–7
   PubMed Web of Science ®Google Scholar
• Sanderson IR, Phillips AS, Spencer J, Walker-Smith JA. Response to autoimmune enteropathy to cyclosporin A therapy. Gut 1991; 32: 1421–5
   PubMed Web of Science ®Google Scholar
• Larsson EL. Cyclosporin A and dexamethasone suppress T-cell responses by selectively acting at distinct sites of the triggering process. J Immunol 1980; 124: 2828–33
   PubMed Web of Science ®Google Scholar
• Dos Reis GA, Shevach EM. Effect of cyclosporin A on T-cell function in vitro: the mechanism of suppression of T-cell proliferation depends on the nature of the T-cell stimulus as well as the differentiation state of the responding T-cell. J Immunol 1982; 129: 2360–7
   PubMed Web of Science ®Google Scholar
• Andrus L, Lafferty KJ. Inhibition of T-cell activity by cyclosporin A. Scand J Immunol 1981; 15: 449–58
   PubMed Web of Science ®Google Scholar
• Halloran PF, Wadgymar A, Autenrie P. Inhibition of MHC product induction may contribute to the immunosuppressive action of cyclosporin. Proc Allergy 1986; 28: 258–68
   Google Scholar
• Mitton SG, Mirakian R, Larcher VF, Dillon MJ, Walker-Smith JA. Enteropathy and renal involvement in an infant with evidence of widespread autoimmune disturbance. J Pediatr Gastroenterol Nutr 1989; 8: 397–400
   PubMed Web of Science ®Google Scholar
• Kobayashi I, Imamura K, Yamada M, Okano M, Yara A, Ikema S, et al. A 75-kD autoantigen recognized by sera from patients with X-linked autoimmune enteropathy associated with nephropathy. Clin Exp Immunol 1998; 111: 527–31
   PubMed Web of Science ®Google Scholar
• Savilahti E, Pelkonen P, Holmberg C, Perkkio M, Unsworth J. 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: 472–6
   PubMed Web of Science ®Google Scholar
• Walker-Smith, JA. Coeliac disease and autoimmune enteropathy. In: ML Mearin, Mulder, CJJ, Coeliac disease. Leiden: Kluwer Academic Publishers; 1991. Pp 131–6.
   Google Scholar
• Unsworth J, Hutchins P, Mitchell J, Phillips A, Hindocha P, Holborow J, et al. Flat small intestinal mucosa and autoantibodies against the gut epithelium. J Pediatr Gastroenterol Nutr 1982; 1: 503–13
   PubMed Web of Science ®Google Scholar
• Skogh T, Heuman R, Tagesson C. Anti-brush border antibodies in Crohn's disease. J Clin Lab Immunol 1982; 9: 147–50
   PubMedGoogle Scholar
• Martin-Villa JM, Camblor S, Costa R, Arnaiz-Villena A. Gut epithelial cell autoantibodies in AIDS pathogenesis. Lancet 1993; 342: 80
   PubMed Web of Science ®Google Scholar
• Unsworth DJ, Walker-Smith JA. Auto-immunity in diarrheal disease. J Pediatr Gastroenterol Nutr 1985; 4: 375–80
   PubMed Web of Science ®Google Scholar
• Kobayashi I, Imamura K, Kubota M, Ishikawa S, Yamada M, Tonoki H, et al. Identification of an autoimmune enteropathy-related 75-kilodalton antigen. Gastroenterology 1999; 117: 823–30
   PubMed Web of Science ®Google Scholar
• Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, et al. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet 2000; 26: 51–5
   PubMed Web of Science ®Google Scholar
• Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, et al. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet 2000; 26: 56–60
   PubMed Web of Science ®Google Scholar
• Colletti RB, Guillot AP, Rosen S, Bhan AK, Hobson CD, Collins AB, et al. Autoimmune enteropathy and nephropathy with circulating anti-epithelial antibodies. J Pediatr 1991; 118: 853–64
   Web of Science ®Google Scholar
• Wildin RS, Ramsell F, Peake J, Faravelli F, Casanova JL, Buist N, et al. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat Genet 2001; 27: 18–20
   PubMed Web of Science ®Google Scholar
• Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, et al. The immune dysregulation, polyendocrinopathy, enteropathy X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet 2001; 27: 20–1
   PubMed Web of Science ®Google Scholar
• Hori S, Nomura T, Sakaguchi S. Control of regulatory T cell development by the transcription factor FOXP3. Science 2003; 299: 1057–61
   PubMed Web of Science ®Google Scholar
• Brunkow ME, Jeffery EW, Hjerrild KA, Paeper B, Clark LB, Yasayko SA, et al. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. Nat Genet 2001; 27: 68–73
   PubMed Web of Science ®Google Scholar
• Wildin RS, Smyk-Pearson S, Filipovich AH. Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. J Med Genet 2002; 9: 537–45
   Web of Science ®Google Scholar
• Owen CJ, Jennings CE, Imrie H, Lachaux A, Bridges NA, Cheetham TD, et al. Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome. J Clin Endocrinol Metab 2003; 88: 6034–9
   PubMed Web of Science ®Google Scholar
• Bennett CL, Brunkow ME, Ramsdell F, O'Briant KC, Zhu Q, Fulehian RL, et al. A rare polyadenylation signal mutation of the FOXP3 gene leads to the IPEX syndrome. Immunogenetics 2001; 53: 435–9
   PubMed Web of Science ®Google Scholar
• Tommasini A, Ferrari S, Moratto D, Badolato R, Boniotto M, Pirulli D, et al. X-chromosome inactivation analysis in a female carrier of FOXP3 mutation. Clin Exp Immunol 2002; 130: 127–30
   PubMed Web of Science ®Google Scholar
• Perheentupa J. APS-I/APECED: the clinical disease and therapy. Endocrinol Metab Clin North Am 2002; 31: 295–320
   PubMed Web of Science ®Google Scholar
• Russo PA, Brochu P, Seidman EG, Roy CC. Autoimmune enteropathy. Pediatr Dev Pathol 1999; 2: 65–71
   PubMed Web of Science ®Google Scholar
• Hill SM, Milla PJ, Bottazzo GF, Mirakian R. Autoimmune enteropathy and colitis: is there a generalised autoimmune gut disorder?. Gut 1991; 32: 36–42
   PubMed Web of Science ®Google Scholar
• Lachaux A. L'entéropathie auto-immune. Arch Pédiatr 1996; 3: 261–6
   PubMed Web of Science ®Google Scholar
• Volta U, De Angelis GL, Granito A, Petrolini N, Fiorini E, Guidi M, et al. Autoimmune enteropathy and rheumatoid arthritis: a new association in the field of autoimmunity. Dig Liver Dis 2006; 38: 926–9
   PubMedGoogle Scholar
• Elwing JE, Clouse RE. Adult-onset autoimmune enteropathy in the setting of thymoma successfully treated with infliximab. Dig Dis Sci 2005; 5: 928–32
   Web of Science ®Google Scholar
• Sherman PM, Mitchell DJ, Cutz E. Neonatal enteropathies: defining the causes of protracted diarrhea of infancy. J Pediatr Gastroenterol Nutr 2004; 38: 16–26
   PubMed Web of Science ®Google Scholar
• Torgerson TR, Ochs HD. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells. J Allergy Clin Immunol 2007; 120: 744–50
   PubMed Web of Science ®Google Scholar
• Wildin RS, Freitas A. IPEX and FOXP3: clinical and research perspectives. J Autoimmun 2005; 25: 56–62
   PubMed Web of Science ®Google Scholar
• Peterson P, Peltonen L. Autoimmune polyendocrinopathy syndrome type 1 (APS 1) and AIRE gene: new views on molecular basis of autoimmunity. J Autoimmun 2005; 25: 49–55
   PubMed Web of Science ®Google Scholar
• Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metabol 2006; 91: 2843–50
   PubMed Web of Science ®Google Scholar
• Al Khalidi H, Kandel G, Streutker CS. Enteropathy with loss of enteroendocrine and Paneth cells in a patient with immune dysregulation: a case of adult autoimmune enteropathy. Hum Pathol 2006; 37: 373–6
   PubMed Web of Science ®Google Scholar
• Catassi C, Mirakian R, Natalizi G, Sbarbati A, Cinti S, Coppa GV, et al. Unresponsive enteropathy associated with circulating enterocyte autoantibodies in a boy with common variable hypogammaglobulinaemia and type I diabetes. J Pediatr Gastroenterol Nutr 1988; 7: 608–13
   PubMed Web of Science ®Google Scholar
• Lifschitz CH, Carrazza F. Effect of formula carbohydrate concentration on tolerance and macronutrient absorption in infants with severe, chronic diarrhea. J Pediatr 1990; 117: 378–91
   PubMed Web of Science ®Google Scholar
• Seidman EG, Lacaille F, Russo P, Galeano N, Murphy G, Roy CC. Successful treatment of autoimmune enteropathy with cyclosporin. J Pediatr 1990; 117: 929–32
   PubMed Web of Science ®Google Scholar
• Bousvaros A, Leichtner AM, Book L, Shigeoka A, Bilodeau J, Semeao E, et al. Treatment of pediatric autoimmune enteropathy with tacrolimus (FK506). Gastroenterology 1996; 111: 237–43
   PubMed Web of Science ®Google Scholar
• Quiros-Tejeira R, Ament ME, Vargas JH. Induction of remission in a child with autoimmune enteropathy using mycophenolate mofetil. J Pediatr Gastroenterol Nutr 2003; 36: 482–5
   PubMed Web of Science ®Google Scholar
• Vanderhoof JA, Young RJ. Autoimmune enteropathy in a child: response to infliximab therapy. J Pediatr Gastroenterol Nutr 2002; 34: 312–6
   PubMed Web of Science ®Google Scholar
• Yu Z, Lennon VA. Mechanism of intravenous immune globulin therapy in antibody-mediated autoimmune diseases. N Engl J Med 1999; 340: 227–8
   PubMed Web of Science ®Google Scholar
• Oliva-Hemker MM, Loeb DM, Abraham SC, Lederman HM. Remission of severe autoimmune enteropathy after treatment with high-dose cyclophosphamide. J Pediatr Gastroenterol Nutr 2003; 36: 639–43
   PubMed Web of Science ®Google Scholar
• Brodsky RA, Fuller AK, Ratner LE, Leffell MS, Jones RJ. Elimination of alloantibodies by immunoablative high-dose cyclophosphamide. Transplantation 2001; 71: 482–4
   PubMed Web of Science ®Google Scholar
• Kobayashi I, Nakanishi M, Okano M, Sakiyama Y, Matsumoto S. Combination therapy with tacrolimus and betamethasone for a patient with X-linked autoimmune enteropathy with haemolytic anaemia and polyendocrinopathy. Eur J Pediatr 1993; 152: 313–5
   PubMed Web of Science ®Google Scholar
• Kobayashi I, Kowamura N, Okano M. A long-term survivor with the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. N Engl J Med 2001; 345: 999–1000
   PubMed Web of Science ®Google Scholar
• Bindl L, Torgerson T, Perroni L, Youssef N, Ochs HD, Goulet O, et al. Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome). J Pediatr 2005; 147: 256–9
   PubMed Web of Science ®Google Scholar
• Baud O, Goulet O, Canioni D, Le Deist F, Radford I, Rieu D, et al. Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogenic bone marrow transplantation. N Engl J Med 2001; 344: 1758–62
   PubMed Web of Science ®Google Scholar
• Yagi H, Nomura T, Nakamura K, Yamazaki S, Kitawaki T, Hori S, et al. Crucial role of FOXP3 in the development and function of human CD25 + CD4+ regulatory T cells. Int Immunol 2004; 16: 1643–56
   PubMed Web of Science ®Google Scholar