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Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

MedGen UID:
1661450
•Concept ID:
C4749850
•
Disease or Syndrome
Synonym: Autosomal recessive early-onset inflammatory bowel disease
SNOMED CT: IL10-related early-onset inflammatory bowel disease (771333006); Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome (771333006); Interleukin 10 related early-onset inflammatory bowel disease (771333006); IL10 (interleukin 10) related early-onset inflammatory bowel disease (771333006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016542
Orphanet: ORPHA238569

Definition

A rare immune dysregulation disease with immunodeficiency and characteristics of severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

Professional guidelines

PubMed

British Society of Gastroenterology guidelines on the management of irritable bowel syndrome.
Vasant DH, Paine PA, Black CJ, Houghton LA, Everitt HA, Corsetti M, Agrawal A, Aziz I, Farmer AD, Eugenicos MP, Moss-Morris R, Yiannakou Y, Ford AC
Gut 2021 Jul;70(7):1214-1240. Epub 2021 Apr 26 doi: 10.1136/gutjnl-2021-324598. PMID: 33903147
An approach to the diagnosis and management of Rome IV functional disorders of chronic constipation.
Aziz I, Whitehead WE, Palsson OS, Törnblom H, Simrén M
Expert Rev Gastroenterol Hepatol 2020 Jan;14(1):39-46. Epub 2020 Jan 2 doi: 10.1080/17474124.2020.1708718. PMID: 31893959
Eosinophilic esophagitis: Current concepts in diagnosis and treatment.
Gómez-Aldana A, Jaramillo-Santos M, Delgado A, Jaramillo C, Lúquez-Mindiola A
World J Gastroenterol 2019 Aug 28;25(32):4598-4613. doi: 10.3748/wjg.v25.i32.4598. PMID: 31528089Free PMC Article

Recent clinical studies

Etiology

Neutrophilic dermatoses.
Delaleu J, Lepelletier C, Calugareanu A, De Masson A, Charvet E, Petit A, Giurgea I, Amselem S, Karabina S, Jachiet M, Mahevas T, Ram-Wolff C, Vignon-Pennamen MD, Bagot M, Battistella M, Bouaziz JD
Rev Med Interne 2022 Dec;43(12):727-738. Epub 2022 Jul 20 doi: 10.1016/j.revmed.2022.06.007. PMID: 35870984
Irritable bowel syndrome.
Ford AC, Sperber AD, Corsetti M, Camilleri M
Lancet 2020 Nov 21;396(10263):1675-1688. Epub 2020 Oct 10 doi: 10.1016/S0140-6736(20)31548-8. PMID: 33049223
The epidemiology of hidradenitis suppurativa.
Ingram JR
Br J Dermatol 2020 Dec;183(6):990-998. Epub 2020 Sep 3 doi: 10.1111/bjd.19435. PMID: 32880911
Thirty Years of Lactobacillus rhamnosus GG: A Review.
Capurso L
J Clin Gastroenterol 2019 Mar;53 Suppl 1:S1-S41. doi: 10.1097/MCG.0000000000001170. PMID: 30741841
Pathophysiology of irritable bowel syndrome.
Holtmann GJ, Ford AC, Talley NJ
Lancet Gastroenterol Hepatol 2016 Oct;1(2):133-146. Epub 2016 Sep 8 doi: 10.1016/S2468-1253(16)30023-1. PMID: 28404070

Diagnosis

Neutrophilic dermatoses.
Delaleu J, Lepelletier C, Calugareanu A, De Masson A, Charvet E, Petit A, Giurgea I, Amselem S, Karabina S, Jachiet M, Mahevas T, Ram-Wolff C, Vignon-Pennamen MD, Bagot M, Battistella M, Bouaziz JD
Rev Med Interne 2022 Dec;43(12):727-738. Epub 2022 Jul 20 doi: 10.1016/j.revmed.2022.06.007. PMID: 35870984
Gastrointestinal and Abdominal Tuberculosis.
Eraksoy H
Gastroenterol Clin North Am 2021 Jun;50(2):341-360. doi: 10.1016/j.gtc.2021.02.004. PMID: 34024445
Irritable bowel syndrome.
Ford AC, Sperber AD, Corsetti M, Camilleri M
Lancet 2020 Nov 21;396(10263):1675-1688. Epub 2020 Oct 10 doi: 10.1016/S0140-6736(20)31548-8. PMID: 33049223
An approach to the diagnosis and management of Rome IV functional disorders of chronic constipation.
Aziz I, Whitehead WE, Palsson OS, Törnblom H, Simrén M
Expert Rev Gastroenterol Hepatol 2020 Jan;14(1):39-46. Epub 2020 Jan 2 doi: 10.1080/17474124.2020.1708718. PMID: 31893959
Pathophysiology of irritable bowel syndrome.
Holtmann GJ, Ford AC, Talley NJ
Lancet Gastroenterol Hepatol 2016 Oct;1(2):133-146. Epub 2016 Sep 8 doi: 10.1016/S2468-1253(16)30023-1. PMID: 28404070

Therapy

Irritable bowel syndrome.
Ford AC, Sperber AD, Corsetti M, Camilleri M
Lancet 2020 Nov 21;396(10263):1675-1688. Epub 2020 Oct 10 doi: 10.1016/S0140-6736(20)31548-8. PMID: 33049223
An approach to the diagnosis and management of Rome IV functional disorders of chronic constipation.
Aziz I, Whitehead WE, Palsson OS, Törnblom H, Simrén M
Expert Rev Gastroenterol Hepatol 2020 Jan;14(1):39-46. Epub 2020 Jan 2 doi: 10.1080/17474124.2020.1708718. PMID: 31893959
Thirty Years of Lactobacillus rhamnosus GG: A Review.
Capurso L
J Clin Gastroenterol 2019 Mar;53 Suppl 1:S1-S41. doi: 10.1097/MCG.0000000000001170. PMID: 30741841
Pathophysiology of irritable bowel syndrome.
Holtmann GJ, Ford AC, Talley NJ
Lancet Gastroenterol Hepatol 2016 Oct;1(2):133-146. Epub 2016 Sep 8 doi: 10.1016/S2468-1253(16)30023-1. PMID: 28404070
Probiotics.
Williams NT
Am J Health Syst Pharm 2010 Mar 15;67(6):449-58. doi: 10.2146/ajhp090168. PMID: 20208051

Prognosis

Efficacy and Acceptability of Dietary Therapies in Non-Constipated Irritable Bowel Syndrome: A Randomized Trial of Traditional Dietary Advice, the Low FODMAP Diet, and the Gluten-Free Diet.
Rej A, Sanders DS, Shaw CC, Buckle R, Trott N, Agrawal A, Aziz I
Clin Gastroenterol Hepatol 2022 Dec;20(12):2876-2887.e15. Epub 2022 Feb 28 doi: 10.1016/j.cgh.2022.02.045. PMID: 35240330
Irritable bowel syndrome.
Ford AC, Sperber AD, Corsetti M, Camilleri M
Lancet 2020 Nov 21;396(10263):1675-1688. Epub 2020 Oct 10 doi: 10.1016/S0140-6736(20)31548-8. PMID: 33049223
Extra-Skeletal Effects of Vitamin D.
Marino R, Misra M
Nutrients 2019 Jun 27;11(7) doi: 10.3390/nu11071460. PMID: 31252594Free PMC Article
Very early onset inflammatory bowel disease.
Moran CJ
Semin Pediatr Surg 2017 Dec;26(6):356-359. Epub 2017 Oct 10 doi: 10.1053/j.sempedsurg.2017.10.004. PMID: 29126503
Whipple's disease.
El-Abassi R, Soliman MY, Williams F, England JD
J Neurol Sci 2017 Jun 15;377:197-206. Epub 2017 Feb 16 doi: 10.1016/j.jns.2017.01.048. PMID: 28477696

Clinical prediction guides

Bifidobacterium adolescentis - a beneficial microbe.
Leser T, Baker A
Benef Microbes 2023 Nov 27;14(6):525-551. doi: 10.1163/18762891-20230030. PMID: 38350464
Efficacy and Acceptability of Dietary Therapies in Non-Constipated Irritable Bowel Syndrome: A Randomized Trial of Traditional Dietary Advice, the Low FODMAP Diet, and the Gluten-Free Diet.
Rej A, Sanders DS, Shaw CC, Buckle R, Trott N, Agrawal A, Aziz I
Clin Gastroenterol Hepatol 2022 Dec;20(12):2876-2887.e15. Epub 2022 Feb 28 doi: 10.1016/j.cgh.2022.02.045. PMID: 35240330
Direct impact of commonly used dietary emulsifiers on human gut microbiota.
Naimi S, Viennois E, Gewirtz AT, Chassaing B
Microbiome 2021 Mar 22;9(1):66. doi: 10.1186/s40168-020-00996-6. PMID: 33752754Free PMC Article
Hidradenitis suppurativa: an update on epidemiology, phenotypes, diagnosis, pathogenesis, comorbidities and quality of life.
Nguyen TV, Damiani G, Orenstein LAV, Hamzavi I, Jemec GB
J Eur Acad Dermatol Venereol 2021 Jan;35(1):50-61. Epub 2020 Jul 16 doi: 10.1111/jdv.16677. PMID: 32460374
Multidisciplinary approach to prostatitis.
Magri V, Boltri M, Cai T, Colombo R, Cuzzocrea S, De Visschere P, Giuberti R, Granatieri CM, Latino MA, Larganà G, Leli C, Maierna G, Marchese V, Massa E, Matteelli A, Montanari E, Morgia G, Naber KG, Papadouli V, Perletti G, Rekleiti N, Russo GI, Sensini A, Stamatiou K, Trinchieri A, Wagenlehner FME
Arch Ital Urol Androl 2019 Jan 18;90(4):227-248. doi: 10.4081/aiua.2018.4.227. PMID: 30655633

Recent systematic reviews

Effectiveness and Durability of COVID-19 Vaccination in 9447 Patients With IBD: A Systematic Review and Meta-Analysis.
Jena A, James D, Singh AK, Dutta U, Sebastian S, Sharma V
Clin Gastroenterol Hepatol 2022 Jul;20(7):1456-1479.e18. Epub 2022 Feb 19 doi: 10.1016/j.cgh.2022.02.030. PMID: 35189387Free PMC Article
SARS-CoV-2 vaccination in patients with inflammatory bowel disease: A systemic review and meta-analysis.
Sung KY, Chang TE, Wang YP, Lin CC, Chang CY, Hou MC, Lu CL
J Chin Med Assoc 2022 Apr 1;85(4):421-430. doi: 10.1097/JCMA.0000000000000682. PMID: 34974509
Feeling down? A systematic review of the gut microbiota in anxiety/depression and irritable bowel syndrome.
Simpson CA, Mu A, Haslam N, Schwartz OS, Simmons JG
J Affect Disord 2020 Apr 1;266:429-446. Epub 2020 Jan 22 doi: 10.1016/j.jad.2020.01.124. PMID: 32056910
Pediatric pyoderma gangrenosum: a systematic review and update.
Kechichian E, Haber R, Mourad N, El Khoury R, Jabbour S, Tomb R
Int J Dermatol 2017 May;56(5):486-495. Epub 2017 Feb 23 doi: 10.1111/ijd.13584. PMID: 28233293
Is there a role of food allergy in irritable bowel syndrome and functional dyspepsia? A systematic review.
Park MI, Camilleri M
Neurogastroenterol Motil 2006 Aug;18(8):595-607. doi: 10.1111/j.1365-2982.2005.00745.x. PMID: 16918724

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