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Autoimmune enteropathy

MedGen UID:
83322
Concept ID:
C0341305
Disease or Syndrome
Synonym: Enteropathy, autoimmune
SNOMED CT: Autoimmune enteropathy (235728001)
 
Monarch Initiative: MONDO:0019787
Orphanet: ORPHA94075

Definition

Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX; see this term) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss. [from ORDO]

Professional guidelines

PubMed

Charbit-Henrion F, Haas M, Chaussade S, Cellier C, Cerf-Bensussan N, Malamut G; Contributors from the AUTOIMMUNE ENTEROPATHY WORKING GROUP, Khater S, Khiat A, Cording S, Parlato M, Dragon-Durey MA, Beuvon F, Brousse N, Terris B, Picard C, Fusaro M, Rieux-Laucat F, Stolzenberg MC, Jannot AS, Mathian A, Allez M, Malphettes M, Fieschi C, Aubourg A, Zallot C, Roblin X, Abitbol V, Belle A, Wils P, Cheminant M, Matysiak-Budnik T, Vuitton L, Pouderoux P, Abramowitz L, Castelle M, Suarez F, Hermine O, Ruemmele F, Mouthon L
Clin Gastroenterol Hepatol 2023 May;21(5):1368-1371.e2. Epub 2022 Aug 6 doi: 10.1016/j.cgh.2022.07.030. PMID: 35944833Free PMC Article
Green PHR, Paski S, Ko CW, Rubio-Tapia A
Gastroenterology 2022 Nov;163(5):1461-1469. Epub 2022 Sep 19 doi: 10.1053/j.gastro.2022.07.086. PMID: 36137844
Elli L, Ferretti F, Orlando S, Vecchi M, Monguzzi E, Roncoroni L, Schuppan D
Eur J Intern Med 2019 Mar;61:15-24. Epub 2018 Dec 5 doi: 10.1016/j.ejim.2018.11.012. PMID: 30528262

Recent clinical studies

Etiology

Charbit-Henrion F, Haas M, Chaussade S, Cellier C, Cerf-Bensussan N, Malamut G; Contributors from the AUTOIMMUNE ENTEROPATHY WORKING GROUP, Khater S, Khiat A, Cording S, Parlato M, Dragon-Durey MA, Beuvon F, Brousse N, Terris B, Picard C, Fusaro M, Rieux-Laucat F, Stolzenberg MC, Jannot AS, Mathian A, Allez M, Malphettes M, Fieschi C, Aubourg A, Zallot C, Roblin X, Abitbol V, Belle A, Wils P, Cheminant M, Matysiak-Budnik T, Vuitton L, Pouderoux P, Abramowitz L, Castelle M, Suarez F, Hermine O, Ruemmele F, Mouthon L
Clin Gastroenterol Hepatol 2023 May;21(5):1368-1371.e2. Epub 2022 Aug 6 doi: 10.1016/j.cgh.2022.07.030. PMID: 35944833Free PMC Article
Russo P
Surg Pathol Clin 2020 Dec;13(4):581-600. Epub 2020 Oct 9 doi: 10.1016/j.path.2020.08.001. PMID: 33183722
Umetsu SE, Brown I, Langner C, Lauwers GY
Virchows Arch 2018 Jan;472(1):55-66. Epub 2017 Oct 11 doi: 10.1007/s00428-017-2243-7. PMID: 29022145
Barton SH, Murray JA
Gastroenterol Clin North Am 2008 Jun;37(2):411-28, vii. doi: 10.1016/j.gtc.2008.02.001. PMID: 18499028Free PMC Article
Chand N, Mihas AA
J Clin Gastroenterol 2006 Jan;40(1):3-14. doi: 10.1097/01.mcg.0000190644.01661.2b. PMID: 16340626

Diagnosis

Charbit-Henrion F, Haas M, Chaussade S, Cellier C, Cerf-Bensussan N, Malamut G; Contributors from the AUTOIMMUNE ENTEROPATHY WORKING GROUP, Khater S, Khiat A, Cording S, Parlato M, Dragon-Durey MA, Beuvon F, Brousse N, Terris B, Picard C, Fusaro M, Rieux-Laucat F, Stolzenberg MC, Jannot AS, Mathian A, Allez M, Malphettes M, Fieschi C, Aubourg A, Zallot C, Roblin X, Abitbol V, Belle A, Wils P, Cheminant M, Matysiak-Budnik T, Vuitton L, Pouderoux P, Abramowitz L, Castelle M, Suarez F, Hermine O, Ruemmele F, Mouthon L
Clin Gastroenterol Hepatol 2023 May;21(5):1368-1371.e2. Epub 2022 Aug 6 doi: 10.1016/j.cgh.2022.07.030. PMID: 35944833Free PMC Article
Green PHR, Paski S, Ko CW, Rubio-Tapia A
Gastroenterology 2022 Nov;163(5):1461-1469. Epub 2022 Sep 19 doi: 10.1053/j.gastro.2022.07.086. PMID: 36137844
Gu B, Liu K, McKenzie C, MacGregor D, Corte C
J Gastroenterol Hepatol 2022 Apr;37(4):606. Epub 2021 Oct 10 doi: 10.1111/jgh.15692. PMID: 34632628
Jimenez J, Loveridge-Lenza B, Horvath K
Pediatr Clin North Am 2021 Dec;68(6):1205-1219. doi: 10.1016/j.pcl.2021.07.007. PMID: 34736585
Watkins RD, Zawahir S
Pediatr Clin North Am 2017 Jun;64(3):563-576. doi: 10.1016/j.pcl.2017.01.013. PMID: 28502438

Therapy

Serena G, Kelly CP, Fasano A
Gastroenterol Clin North Am 2019 Mar;48(1):145-163. Epub 2018 Dec 13 doi: 10.1016/j.gtc.2018.09.011. PMID: 30711207
Owen DR, Owen DA
Arch Pathol Lab Med 2018 Jan;142(1):35-43. Epub 2017 Jul 31 doi: 10.5858/arpa.2016-0608-RA. PMID: 28758791
McCarville JL, Caminero A, Verdu EF
Curr Opin Pharmacol 2015 Dec;25:7-12. Epub 2015 Sep 27 doi: 10.1016/j.coph.2015.09.002. PMID: 26414923
Bernardos E, Solís-Herruzo JA
Rev Esp Enferm Dig 2003 Jul;95(7):494-6, 490-3. PMID: 12952510
Russo PA, Brochu P, Seidman EG, Roy CC
Pediatr Dev Pathol 1999 Jan-Feb;2(1):65-71. doi: 10.1007/s100249900092. PMID: 9841709

Prognosis

Christodoulidis G, Agko SE, Kouliou MN, Koumarelas KE, Zacharoulis D
World J Gastroenterol 2025 Jan 14;31(2):99118. doi: 10.3748/wjg.v31.i2.99118. PMID: 39811507Free PMC Article
Li MH, Ruan GC, Zhou WX, Li XQ, Zhang SY, Chen Y, Bai XY, Yang H, Zhang YJ, Zhao PY, Li J, Li JN
World J Gastroenterol 2024 May 21;30(19):2523-2537. doi: 10.3748/wjg.v30.i19.2523. PMID: 38817655Free PMC Article
Green PHR, Paski S, Ko CW, Rubio-Tapia A
Gastroenterology 2022 Nov;163(5):1461-1469. Epub 2022 Sep 19 doi: 10.1053/j.gastro.2022.07.086. PMID: 36137844
Elli L, Ferretti F, Vaira V
Curr Opin Gastroenterol 2019 May;35(3):243-249. doi: 10.1097/MOG.0000000000000515. PMID: 30747741
Chand N, Mihas AA
J Clin Gastroenterol 2006 Jan;40(1):3-14. doi: 10.1097/01.mcg.0000190644.01661.2b. PMID: 16340626

Clinical prediction guides

Christodoulidis G, Agko SE, Kouliou MN, Koumarelas KE, Zacharoulis D
World J Gastroenterol 2025 Jan 14;31(2):99118. doi: 10.3748/wjg.v31.i2.99118. PMID: 39811507Free PMC Article
Montón Rodríguez C, Sánchez Serrano J, Poyatos García P, Abril García C, Gómez Medina C, Capilla-Lozano M, Lluch Garcia P, Pascual Moreno I
Rev Esp Enferm Dig 2024 Jan;116(1):41-42. doi: 10.17235/reed.2023.9516/2023. PMID: 37204091
Moya DA, Nugent CA, Baker RD, Baker SS
Clin Pediatr (Phila) 2020 Jun;59(7):649-655. Epub 2020 Mar 24 doi: 10.1177/0009922820912216. PMID: 32207323
Serena G, Lima R, Fasano A
Curr Allergy Asthma Rep 2019 Jul 18;19(9):40. doi: 10.1007/s11882-019-0871-5. PMID: 31321608
Umetsu SE, Brown I, Langner C, Lauwers GY
Virchows Arch 2018 Jan;472(1):55-66. Epub 2017 Oct 11 doi: 10.1007/s00428-017-2243-7. PMID: 29022145

Recent systematic reviews

Gromny I, Neubauer K
Int J Environ Res Public Health 2023 Jan 14;20(2) doi: 10.3390/ijerph20021565. PMID: 36674320Free PMC Article
Jamee M, Hosseinzadeh S, Sharifinejad N, Zaki-Dizaji M, Matloubi M, Hasani M, Baris S, Alsabbagh M, Lo B, Azizi G
Clin Exp Immunol 2021 Jul;205(1):28-43. Epub 2021 May 3 doi: 10.1111/cei.13600. PMID: 33788257Free PMC Article
Ruemmele FM, Moes N, de Serre NP, Rieux-Laucat F, Goulet O
Curr Opin Gastroenterol 2008 Nov;24(6):742-8. doi: 10.1097/MOG.0b013e32830c9022. PMID: 19122524

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