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Inflammatory bowel disease 25(IBD25)

MedGen UID:
393403
Concept ID:
C2675508
Disease or Syndrome
Synonyms: Inflammatory bowel disease 25, autosomal recessive; Inflammatory bowel disease 25, early onset, autosomal recessive
 
Gene (location): IL10RB (21q22.11)
 
Monarch Initiative: MONDO:0012941
OMIM®: 612567

Definition

Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene. [from MONDO]

Clinical features

From HPO
Enterocolitis
MedGen UID:
4966
Concept ID:
C0014356
Disease or Syndrome
An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).
Perianal abscess
MedGen UID:
14677
Concept ID:
C0031019
Disease or Syndrome
The presence of an abscess located around the anus.
Rectovaginal fistula
MedGen UID:
11152
Concept ID:
C0034895
Finding
The presence of a fistula between the vagina and the rectum.
Enterocutaneous fistula
MedGen UID:
137955
Concept ID:
C0341318
Anatomical Abnormality
An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin.
Pancolitis
MedGen UID:
1720692
Concept ID:
C0868908
Disease or Syndrome
Inflammation of the entire colon.
Recurrent bronchitis
MedGen UID:
148159
Concept ID:
C0741796
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
Folliculitis
MedGen UID:
4752
Concept ID:
C0016436
Disease or Syndrome
Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule.

Professional guidelines

PubMed

Parian AM, Obi M, Fleshner P, Schwartz DA
Am J Gastroenterol 2023 Aug 1;118(8):1323-1331. Epub 2023 Jun 19 doi: 10.14309/ajg.0000000000002326. PMID: 37207318
Claytor J, Kumar P, Ananthakrishnan AN, Colombel JF, Agrawal M, Ungaro RC
Curr Gastroenterol Rep 2023 Mar;25(3):45-51. Epub 2023 Feb 8 doi: 10.1007/s11894-023-00863-y. PMID: 36753033
Fragoulis GE, Liava C, Daoussis D, Akriviadis E, Garyfallos A, Dimitroulas T
World J Gastroenterol 2019 May 14;25(18):2162-2176. doi: 10.3748/wjg.v25.i18.2162. PMID: 31143068Free PMC Article

Recent clinical studies

Etiology

Chen J, Xu F, Ruan X, Sun J, Zhang Y, Zhang H, Zhao J, Zheng J, Larsson SC, Wang X, Li X, Yuan S
EBioMedicine 2023 Mar;89:104494. Epub 2023 Feb 27 doi: 10.1016/j.ebiom.2023.104494. PMID: 36857861Free PMC Article
Din S, Selinger CP, Black CJ, Ford AC
Aliment Pharmacol Ther 2023 Mar;57(6):666-675. Epub 2022 Dec 31 doi: 10.1111/apt.17379. PMID: 36585944
Li Y, Guo J, Cao Z, Wu J
Front Immunol 2022;13:916645. Epub 2022 Jun 10 doi: 10.3389/fimmu.2022.916645. PMID: 35757704Free PMC Article
Ahmed W, Galati J, Kumar A, Christos PJ, Longman R, Lukin DJ, Scherl E, Battat R
Clin Gastroenterol Hepatol 2022 Mar;20(3):e361-e379. Epub 2021 Mar 31 doi: 10.1016/j.cgh.2021.03.034. PMID: 33798711
Ferro JM, Oliveira Santos M
J Neurol Sci 2021 May 15;424:117426. Epub 2021 Mar 27 doi: 10.1016/j.jns.2021.117426. PMID: 33810878

Diagnosis

Ashton JJ, Beattie RM
Arch Dis Child 2024 Apr 18;109(5):370-376. doi: 10.1136/archdischild-2023-325668. PMID: 37468139Free PMC Article
Jiao X, Wu WY, Zhan SF, Liu JB, Zhang XJ
Front Immunol 2023;14:1240811. Epub 2023 Nov 8 doi: 10.3389/fimmu.2023.1240811. PMID: 38022582Free PMC Article
Xu D, Chen Y, Gao X, Xie W, Wang Y, Shen J, Yang G, Xie B
Front Immunol 2023;14:1148107. Epub 2023 May 18 doi: 10.3389/fimmu.2023.1148107. PMID: 37275908Free PMC Article
Li Y, Guo J, Cao Z, Wu J
Front Immunol 2022;13:916645. Epub 2022 Jun 10 doi: 10.3389/fimmu.2022.916645. PMID: 35757704Free PMC Article
Kaplan GG
Nat Rev Gastroenterol Hepatol 2015 Dec;12(12):720-7. Epub 2015 Sep 1 doi: 10.1038/nrgastro.2015.150. PMID: 26323879

Therapy

Chen J, Ruan X, Sun Y, Lu S, Hu S, Yuan S, Li X
EBioMedicine 2024 Jan;99:104934. Epub 2023 Dec 16 doi: 10.1016/j.ebiom.2023.104934. PMID: 38103512Free PMC Article
Chen J, Xu F, Ruan X, Sun J, Zhang Y, Zhang H, Zhao J, Zheng J, Larsson SC, Wang X, Li X, Yuan S
EBioMedicine 2023 Mar;89:104494. Epub 2023 Feb 27 doi: 10.1016/j.ebiom.2023.104494. PMID: 36857861Free PMC Article
Din S, Selinger CP, Black CJ, Ford AC
Aliment Pharmacol Ther 2023 Mar;57(6):666-675. Epub 2022 Dec 31 doi: 10.1111/apt.17379. PMID: 36585944
Ahmed W, Galati J, Kumar A, Christos PJ, Longman R, Lukin DJ, Scherl E, Battat R
Clin Gastroenterol Hepatol 2022 Mar;20(3):e361-e379. Epub 2021 Mar 31 doi: 10.1016/j.cgh.2021.03.034. PMID: 33798711
Berg DR, Colombel JF, Ungaro R
Inflamm Bowel Dis 2019 Nov 14;25(12):1896-1905. doi: 10.1093/ibd/izz059. PMID: 30934053Free PMC Article

Prognosis

Ashton JJ, Beattie RM
Arch Dis Child 2024 Apr 18;109(5):370-376. doi: 10.1136/archdischild-2023-325668. PMID: 37468139Free PMC Article
Jiao X, Wu WY, Zhan SF, Liu JB, Zhang XJ
Front Immunol 2023;14:1240811. Epub 2023 Nov 8 doi: 10.3389/fimmu.2023.1240811. PMID: 38022582Free PMC Article
Cao F, Liu YC, Ni QY, Chen Y, Wan CH, Liu SY, Tao LM, Jiang ZX, Ni J, Pan HF
Autoimmun Rev 2023 Aug;22(8):103359. Epub 2023 May 16 doi: 10.1016/j.autrev.2023.103359. PMID: 37201621
Fairbrass KM, Lovatt J, Barberio B, Yuan Y, Gracie DJ, Ford AC
Gut 2022 Sep;71(9):1773-1780. Epub 2021 Nov 1 doi: 10.1136/gutjnl-2021-325985. PMID: 34725197
Berg DR, Colombel JF, Ungaro R
Inflamm Bowel Dis 2019 Nov 14;25(12):1896-1905. doi: 10.1093/ibd/izz059. PMID: 30934053Free PMC Article

Clinical prediction guides

Chen J, Ruan X, Sun Y, Lu S, Hu S, Yuan S, Li X
EBioMedicine 2024 Jan;99:104934. Epub 2023 Dec 16 doi: 10.1016/j.ebiom.2023.104934. PMID: 38103512Free PMC Article
Ashton JJ, Beattie RM
Arch Dis Child 2024 Apr 18;109(5):370-376. doi: 10.1136/archdischild-2023-325668. PMID: 37468139Free PMC Article
Chen J, Xu F, Ruan X, Sun J, Zhang Y, Zhang H, Zhao J, Zheng J, Larsson SC, Wang X, Li X, Yuan S
EBioMedicine 2023 Mar;89:104494. Epub 2023 Feb 27 doi: 10.1016/j.ebiom.2023.104494. PMID: 36857861Free PMC Article
Li Y, Guo J, Cao Z, Wu J
Front Immunol 2022;13:916645. Epub 2022 Jun 10 doi: 10.3389/fimmu.2022.916645. PMID: 35757704Free PMC Article
Cox SR, Lindsay JO, Fromentin S, Stagg AJ, McCarthy NE, Galleron N, Ibraim SB, Roume H, Levenez F, Pons N, Maziers N, Lomer MC, Ehrlich SD, Irving PM, Whelan K
Gastroenterology 2020 Jan;158(1):176-188.e7. Epub 2019 Oct 2 doi: 10.1053/j.gastro.2019.09.024. PMID: 31586453

Recent systematic reviews

Din S, Selinger CP, Black CJ, Ford AC
Aliment Pharmacol Ther 2023 Mar;57(6):666-675. Epub 2022 Dec 31 doi: 10.1111/apt.17379. PMID: 36585944
Barberio B, Gracie DJ, Black CJ, Ford AC
Gut 2023 Feb;72(2):264-274. Epub 2022 Jul 30 doi: 10.1136/gutjnl-2022-328052. PMID: 35907636
Ahmed W, Galati J, Kumar A, Christos PJ, Longman R, Lukin DJ, Scherl E, Battat R
Clin Gastroenterol Hepatol 2022 Mar;20(3):e361-e379. Epub 2021 Mar 31 doi: 10.1016/j.cgh.2021.03.034. PMID: 33798711
Singh S, Murad MH, Fumery M, Sedano R, Jairath V, Panaccione R, Sandborn WJ, Ma C
Lancet Gastroenterol Hepatol 2021 Dec;6(12):1002-1014. Epub 2021 Oct 22 doi: 10.1016/S2468-1253(21)00312-5. PMID: 34688373Free PMC Article
Barberio B, Zamani M, Black CJ, Savarino EV, Ford AC
Lancet Gastroenterol Hepatol 2021 May;6(5):359-370. Epub 2021 Mar 12 doi: 10.1016/S2468-1253(21)00014-5. PMID: 33721557

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