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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).
 
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

Lee WS, Chew KS, Ng RT, Kasmi KE, Sokol RJ
Hepatol Int 2020 May;14(3):305-316. Epub 2020 Apr 30 doi: 10.1007/s12072-020-10048-8. PMID: 32356227
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
Takeshita J, Grewal S, Langan SM, Mehta NN, Ogdie A, Van Voorhees AS, Gelfand JM
J Am Acad Dermatol 2017 Mar;76(3):393-403. doi: 10.1016/j.jaad.2016.07.065. PMID: 28212760Free PMC Article

Recent clinical studies

Etiology

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
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
Capurso L
J Clin Gastroenterol 2019 Mar;53 Suppl 1:S1-S41. doi: 10.1097/MCG.0000000000001170. PMID: 30741841
Takeshita J, Grewal S, Langan SM, Mehta NN, Ogdie A, Van Voorhees AS, Gelfand JM
J Am Acad Dermatol 2017 Mar;76(3):393-403. doi: 10.1016/j.jaad.2016.07.065. PMID: 28212760Free PMC Article
Saper RB, Rash R
Am Fam Physician 2009 May 1;79(9):768-72. PMID: 20141096Free PMC Article

Diagnosis

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
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
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
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
Takeshita J, Grewal S, Langan SM, Mehta NN, Ogdie A, Van Voorhees AS, Gelfand JM
J Am Acad Dermatol 2017 Mar;76(3):393-403. doi: 10.1016/j.jaad.2016.07.065. PMID: 28212760Free PMC Article

Therapy

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
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
Capurso L
J Clin Gastroenterol 2019 Mar;53 Suppl 1:S1-S41. doi: 10.1097/MCG.0000000000001170. PMID: 30741841
Hidalgo-Cantabrana C, Delgado S, Ruiz L, Ruas-Madiedo P, Sánchez B, Margolles A
Microbiol Spectr 2017 Jun;5(3) doi: 10.1128/microbiolspec.BAD-0010-2016. PMID: 28643627
Williams NT
Am J Health Syst Pharm 2010 Mar 15;67(6):449-58. doi: 10.2146/ajhp090168. PMID: 20208051

Prognosis

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
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
Clarke K, Chintanaboina J
Clin Rev Allergy Immunol 2019 Oct;57(2):179-193. doi: 10.1007/s12016-018-8690-3. PMID: 29754190
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
Fabre A, Martinez-Vinson C, Goulet O, Badens C
Orphanet J Rare Dis 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. PMID: 23302111Free PMC Article

Clinical prediction guides

van Dam KPJ, Wieske L, Stalman EW, Kummer LYL, Roosen J, van Kempen ZLE, Killestein J, Volkers AG, Boekel L, Wolbink GJ, van der Kooi AJ, Raaphorst J, Löwenberg M, Takkenberg RB, D'Haens GRAM, Spuls PI, Bekkenk MW, Musters AH, Post NF, Bosma AL, Hilhorst ML, Vegting Y, Bemelman FJ, Voskuyl AE, Broens B, Sanchez AP, van Els CACM, de Wit J, Rutgers A, de Leeuw K, Horváth B, Verschuuren JJGM, Ruiter AM, van Ouwerkerk L, van der Woude D, Allaart RCF, Teng YKO, van Paassen P, Busch MH, Jallah PBP, Brusse E, van Doorn PA, Baars AE, Hijnen DJ, Schreurs CRG, van der Pol WL, Goedee HS, Steenhuis M, Keijzer S, Keijser JBD, Cristianawati O, Rispens T, Brinke AT, Verstegen NJM, Marieke van Ham S, Tas SW, Kuijpers TW, Eftimov F; T2B! Immunity against SARS-CoV-2 study group
J Autoimmun 2023 Feb;135:102984. Epub 2023 Jan 2 doi: 10.1016/j.jaut.2022.102984. PMID: 36621174Free PMC Article
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
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
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
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

Juvet LK, Robertson AH, Laake I, Mjaaland S, Trogstad L
Front Immunol 2021;12:740048. Epub 2021 Oct 28 doi: 10.3389/fimmu.2021.740048. PMID: 34777351Free PMC Article
Le Hingrat Q, Sereti I, Landay AL, Pandrea I, Apetrei C
Front Immunol 2021;12:695674. Epub 2021 Jul 21 doi: 10.3389/fimmu.2021.695674. PMID: 34367156Free PMC Article
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
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
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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