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Primary autoimmune enteropathy

MedGen UID:
1842843
Concept ID:
C5681441
Disease or Syndrome
Synonym: primary autoimmune enteropathy
 
Monarch Initiative: MONDO:0033862
Orphanet: ORPHA522037

Definition

A rare intestinal disease characterized by immune-mediated injury of the intestinal mucosa, leading to severe, chronic, intractable diarrhea, malabsorption, and severe weight loss or failure to thrive. Characteristic histologic findings in the small intestine include partial or complete blunting of the villi, deep crypt lymphocytosis, increased crypt apoptosis, and minimal surface intraepithelial lymphocytosis. In addition, the stomach, colon, and esophagus may also be involved. Circulating autoantibodies against enterocytes and/or goblet cells are found in many, but not all, patients. The diagnosis requires exclusion of other causes of villous atrophy. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrimary autoimmune enteropathy

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
Soltesz K, Mosebach J, Paruch E, Covino J
JAAPA 2022 May 1;35(5):39-44. doi: 10.1097/01.JAA.0000824940.10046.5d. PMID: 35472034
Walter JE, Farmer JR, Foldvari Z, Torgerson TR, Cooper MA
J Allergy Clin Immunol Pract 2016 Nov-Dec;4(6):1089-1100. doi: 10.1016/j.jaip.2016.08.004. PMID: 27836058Free PMC Article

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
Villanacci V, Lougaris V, Ravelli A, Buscarini E, Salviato T, Lionetti P, Salemme M, Martelossi S, De Giacomo C, Falchetti D, Pelizzo G, Bassotti G
Clin Immunol 2019 Oct;207:10-17. Epub 2019 Jul 4 doi: 10.1016/j.clim.2019.07.001. PMID: 31279857
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
Leonard MM, Fogle R, Asch A, Katz A
Clin Pediatr (Phila) 2016 Mar;55(3):214-8. Epub 2015 Jul 6 doi: 10.1177/0009922815593879. PMID: 26149846Free PMC Article
Guarino A, Spagnuolo MI, Russo S, Albano F, Guandalini S, Capano G, Cucchiara S, Vairano P, Liguori R, Casola A
J Pediatr Gastroenterol Nutr 1995 Feb;20(2):173-8. doi: 10.1097/00005176-199502000-00006. PMID: 7714682

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
Soltesz K, Mosebach J, Paruch E, Covino J
JAAPA 2022 May 1;35(5):39-44. doi: 10.1097/01.JAA.0000824940.10046.5d. PMID: 35472034
Bacchetta R, Barzaghi F, Roncarolo MG
Ann N Y Acad Sci 2018 Apr;1417(1):5-22. Epub 2016 Feb 25 doi: 10.1111/nyas.13011. PMID: 26918796
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
Di Sabatino A, Biagi F, Lenzi M, Frulloni L, Lenti MV, Giuffrida P, Corazza GR
Dig Liver Dis 2017 Sep;49(9):947-956. Epub 2017 Jun 23 doi: 10.1016/j.dld.2017.06.010. PMID: 28733178

Therapy

Kalaidina E, Utterson EC, Mokshagundam D, He M, Shenoy S, Cooper MA
Front Immunol 2022;13:863218. Epub 2022 Apr 5 doi: 10.3389/fimmu.2022.863218. PMID: 35450071Free PMC Article
Zhou QY, Zhou WX, Sun XY, Wu B, Zheng WY, Li Y, Qian JM
World J Gastroenterol 2021 Aug 7;27(29):4929-4938. doi: 10.3748/wjg.v27.i29.4929. PMID: 34447236Free PMC Article
Parlato M, Charbit-Henrion F, Abi Nader E, Begue B, Guegan N, Bruneau J, Khater S, Macintyre E, Picard C, Frédéric RL, Le Bourhis L, Allez M, Goulet O, Cellier C, Hermine O, Cerf-Bensussan N, Malamut G
Gastroenterology 2019 Mar;156(4):1206-1210.e1. Epub 2018 Dec 15 doi: 10.1053/j.gastro.2018.11.065. PMID: 30557559Free PMC Article
Croese J, Giacomin P, Navarro S, Clouston A, McCann L, Dougall A, Ferreira I, Susianto A, O'Rourke P, Howlett M, McCarthy J, Engwerda C, Jones D, Loukas A
J Allergy Clin Immunol 2015 Feb;135(2):508-16. Epub 2014 Sep 20 doi: 10.1016/j.jaci.2014.07.022. PMID: 25248819
Murray JA, Rubio-Tapia A
Best Pract Res Clin Gastroenterol 2012 Oct;26(5):581-600. doi: 10.1016/j.bpg.2012.11.013. PMID: 23384804Free PMC Article

Prognosis

Kalaidina E, Utterson EC, Mokshagundam D, He M, Shenoy S, Cooper MA
Front Immunol 2022;13:863218. Epub 2022 Apr 5 doi: 10.3389/fimmu.2022.863218. PMID: 35450071Free PMC Article
Halabi I, Barohom MN, Peleg S, Trougouboff P, Elias-Assad G, Agbaria R, Tenenbaum-Rakover Y
Front Endocrinol (Lausanne) 2021;12:645279. Epub 2021 Jun 14 doi: 10.3389/fendo.2021.645279. PMID: 34194389Free PMC Article
Croese J, Giacomin P, Navarro S, Clouston A, McCann L, Dougall A, Ferreira I, Susianto A, O'Rourke P, Howlett M, McCarthy J, Engwerda C, Jones D, Loukas A
J Allergy Clin Immunol 2015 Feb;135(2):508-16. Epub 2014 Sep 20 doi: 10.1016/j.jaci.2014.07.022. PMID: 25248819
Guarino A, De Marco G; Italian National Network for Pediatric Intestinal Failure
J Pediatr Gastroenterol Nutr 2003 Aug;37(2):136-41. doi: 10.1097/00005176-200308000-00010. PMID: 12883298

Clinical prediction guides

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
Croese J, Giacomin P, Navarro S, Clouston A, McCann L, Dougall A, Ferreira I, Susianto A, O'Rourke P, Howlett M, McCarthy J, Engwerda C, Jones D, Loukas A
J Allergy Clin Immunol 2015 Feb;135(2):508-16. Epub 2014 Sep 20 doi: 10.1016/j.jaci.2014.07.022. PMID: 25248819
Bizzaro N, Villalta D, Tonutti E, Tampoia M, Bassetti D, Tozzoli R
Autoimmun Rev 2003 Oct;2(6):358-63. doi: 10.1016/s1568-9972(03)00055-7. PMID: 14550877
Guarino A, De Marco G; Italian National Network for Pediatric Intestinal Failure
J Pediatr Gastroenterol Nutr 2003 Aug;37(2):136-41. doi: 10.1097/00005176-200308000-00010. PMID: 12883298

Recent systematic reviews

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

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