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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
Rossi CM, Lenti MV, Merli S, Santacroce G, Di Sabatino A
Autoimmun Rev 2022 Jan;21(1):102958. Epub 2021 Sep 21 doi: 10.1016/j.autrev.2021.102958. PMID: 34560305
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
Consonni F, Dotta L, Todaro F, Vairo D, Badolato R
Curr Opin Pediatr 2017 Dec;29(6):711-717. doi: 10.1097/MOP.0000000000000551. PMID: 28914637
Ryan BM, Kelleher D
Gastroenterology 2000 Jul;119(1):243-51. doi: 10.1053/gast.2000.8530. PMID: 10889175

Diagnosis

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
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
Chen CB, Tahboub F, Plesec T, Kay M, Radhakrishnan K
Dig Dis Sci 2020 Nov;65(11):3079-3090. Epub 2020 Aug 24 doi: 10.1007/s10620-020-06540-8. PMID: 32833153
Elli L, Ferretti F, Vaira V
Curr Opin Gastroenterol 2019 May;35(3):243-249. doi: 10.1097/MOG.0000000000000515. PMID: 30747741
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

Therapy

van Wanrooij RLJ, Bontkes HJ, Neefjes-Borst EA, Mulder CJ, Bouma G
J Autoimmun 2021 Mar;118:102609. Epub 2021 Feb 17 doi: 10.1016/j.jaut.2021.102609. PMID: 33607573
Elli L, Ferretti F, Vaira V
Curr Opin Gastroenterol 2019 May;35(3):243-249. doi: 10.1097/MOG.0000000000000515. PMID: 30747741
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
Ahmed Z, Imdad A, Connelly JA, Acra S
Dig Dis Sci 2019 Mar;64(3):643-654. Epub 2018 Nov 10 doi: 10.1007/s10620-018-5364-1. PMID: 30415406Free PMC Article
Cristofori F, Indrio F, Miniello VL, De Angelis M, Francavilla R
Nutrients 2018 Nov 23;10(12) doi: 10.3390/nu10121824. PMID: 30477107Free PMC Article

Prognosis

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
Ahmed Z, Imdad A, Connelly JA, Acra S
Dig Dis Sci 2019 Mar;64(3):643-654. Epub 2018 Nov 10 doi: 10.1007/s10620-018-5364-1. PMID: 30415406Free PMC Article
Montalto M, D'Onofrio F, Santoro L, Gallo A, Gasbarrini A, Gasbarrini G
Scand J Gastroenterol 2009;44(9):1029-36. doi: 10.1080/00365520902783691. PMID: 19255930
Ryan BM, Kelleher D
Gastroenterology 2000 Jul;119(1):243-51. doi: 10.1053/gast.2000.8530. PMID: 10889175

Clinical prediction guides

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
Ahmed Z, Imdad A, Connelly JA, Acra S
Dig Dis Sci 2019 Mar;64(3):643-654. Epub 2018 Nov 10 doi: 10.1007/s10620-018-5364-1. PMID: 30415406Free PMC Article
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
Garnier-Lengliné H, Cerf-Bensussan N, Ruemmele FM
Clin Res Hepatol Gastroenterol 2015 Oct;39(5):544-51. Epub 2015 Jul 15 doi: 10.1016/j.clinre.2015.05.024. PMID: 26186878
Rossi T
Adolesc Med Clin 2004 Feb;15(1):91-103, ix. doi: 10.1016/j.admecli.2003.11.006. PMID: 15272258

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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