دورية أكاديمية
Genomic testing identifies monogenic causes in patients with very early-onset inflammatory bowel disease: a multicenter survey in an Iranian cohort.
| العنوان: | Genomic testing identifies monogenic causes in patients with very early-onset inflammatory bowel disease: a multicenter survey in an Iranian cohort. |
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| المؤلفون: | Eslamian G; Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Jamee M; Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Pediatric Infections Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Pediatric Nephrology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Momen T; Department of Allergy and Clinical Immunology, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran., Rohani P; Pediatric Gastroenterology and Hepatology Research Center, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran., Ebrahimi S; Department of Pediatrics, Kerman University of Medical Sciences, Kerman, Iran., Mesdaghi M; Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Ghadimi S; School of Medicine, Azad University of Medical Sciences, Tehran, Iran., Mansouri M; Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Mahdaviani SA; Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran., Sadeghi-Shabestari M; Immunology Research Center, TB and Lung Research Center, Children Hospital, Tabriz University of Medical Sciences, Tabriz, Iran., Fallahpour M; Allergy Department, Rasoul Akram Complex, Clinical Research Development Center (RCRDC), Iran University of Medical Sciences, Tehran, Iran., Shamsian BS; Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Eslami N; Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Sharafian S; Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Dara N; Pediatric Gastroenterology, Hepatology and Nutrition Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Nasri P; Department of Allergy and Clinical Immunology, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.; Metabolic Liver Disease Research Center, Isfahan University of Medical Sciences, Isfahan, Iran., Amini N; Department of Allergy and Clinical Immunology, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran., Enayat J; Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Fallahi M; Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Ghasemi Hashtrodi L; Children Growth Research Center, Research Institute for Prevention of Non-Communicable Diseases, Qazvin University of Medical Sciences, Ghods Hospital, Qazvin, Iran., Shojaei M; School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Guevara Becerra M; Translational Gastroenterology Unit, University of Oxford, Oxford, UK.; Oxford Biomedical Research Centre, University of Oxford, Oxford, UK., Uhlig HH; Translational Gastroenterology Unit, University of Oxford, Oxford, UK.; Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.; Department of Paediatrics, University of Oxford, Oxford, UK., Chavoshzadeh Z; Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. |
| المصدر: | Clinical and experimental immunology [Clin Exp Immunol] 2024 Jun 20; Vol. 217 (1), pp. 1-11. |
| نوع المنشور: | Journal Article; Multicenter Study |
| اللغة: | English |
| بيانات الدورية: | Publisher: Oxford University Press Country of Publication: England NLM ID: 0057202 Publication Model: Print Cited Medium: Internet ISSN: 1365-2249 (Electronic) Linking ISSN: 00099104 NLM ISO Abbreviation: Clin Exp Immunol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2022- : Oxford : Oxford University Press Original Publication: Oxford : Blackwell Scientific Publications |
| مواضيع طبية MeSH: | Inflammatory Bowel Diseases*/genetics , Exome Sequencing*, Humans ; Male ; Female ; Iran ; Child, Preschool ; Infant ; Age of Onset ; Child ; Genetic Testing/methods ; Cohort Studies ; Mutation ; I-kappa B Kinase/genetics ; Consanguinity ; Receptors, Interleukin-10/genetics |
| مستخلص: | Patients with very early-onset inflammatory bowel disease (VEO-IBD) may present because of underlying monogenic inborn errors of immunity (IEI). Strong differences have been observed in the causes of monogenic IBD among ethnic populations. This multicenter study was carried out on 16 Iranian patients with VEO-IBD. We reviewed clinical and basic immunologic evaluation including flow cytometry and immunoglobulin levels. All patients underwent clinical whole exome sequencing (WES). Sixteen patients (8 females and 8 males) with a median age of 43.5 months were enrolled. The median age at the onset of symptoms was 4 months. Most patients (12, 75%) had consanguineous parents. Chronic non-bloody diarrhea (13, 81.3%) and perianal diseases including perianal abscess (6, 37.5%), anal fissure (6, 37.5%), or anal fistula (2, 12.5%) were the most common manifestations. WES identified a spectrum of genetic variants in 13 patients (81.3%): IL10RB (6, 37.5%), MVK (3, 18.8%), and CASP8, SLC35C1, G6PC3, and IKBKB in 1 patient, respectively. In 3 patients (18.7%), no variant was identified. Flow cytometry identified a spectrum of abnormalities that helped to assess the evidence of genetic diagnosis. At the end of the survey, 3 (18.8%) patients were deceased. This high rate of monogenic defects with a broad spectrum of genes reiterates the importance of investigating IEI in patients with infantile-onset IBD. (© The Author(s) 2024. Published by Oxford University Press on behalf of the British Society for Immunology. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.) |
| References: | J Clin Immunol. 2023 Feb;43(2):495-511. (PMID: 36370291) J Allergy Clin Immunol Pract. 2020 Sep;8(8):2747-2760.e7. (PMID: 32428713) Allergy Asthma Clin Immunol. 2023 Apr 10;19(1):29. (PMID: 37038193) Nature. 2017 Nov 23;551(7681):521-524. (PMID: 29143814) World J Gastroenterol. 2015 Nov 21;21(43):12296-310. (PMID: 26604638) J Pediatr Gastroenterol Nutr. 2021 Mar 1;72(3):456-473. (PMID: 33346580) Paediatr Drugs. 2022 May;24(3):207-216. (PMID: 35467244) BMC Gastroenterol. 2021 May 6;21(1):204. (PMID: 33957874) Am J Med Genet. 1992 Oct 1;44(3):297-302. (PMID: 1488976) Mol Syst Biol. 2011 Oct 11;7:539. (PMID: 21988835) Intest Res. 2022 Oct;20(4):475-481. (PMID: 35686293) Gastroenterology. 2014 Oct;147(4):803-813.e7; quiz e14-5. (PMID: 24951840) Lancet Gastroenterol Hepatol. 2023 Mar;8(3):271-286. (PMID: 36634696) J Pediatr Gastroenterol Nutr. 2020 Mar;70(3):389-403. (PMID: 32079889) Nat Commun. 2020 Feb 21;11(1):995. (PMID: 32081864) Gastroenterology. 2014 Nov;147(5):990-1007.e3. (PMID: 25058236) Nature. 2021 Aug;596(7873):583-589. (PMID: 34265844) Gastroenterology. 2022 Mar;162(3):859-876. (PMID: 34780721) Inflamm Bowel Dis. 2023 Oct 3;29(10):1572-1578. (PMID: 36594920) Protein Sci. 2021 Jan;30(1):70-82. (PMID: 32881101) Clin Gastroenterol Hepatol. 2022 Apr;20(4):e653-e663. (PMID: 33746097) Immunol Invest. 2021 May;50(4):445-459. (PMID: 32633164) N Engl J Med. 1992 Dec 17;327(25):1789-92. (PMID: 1279426) Genet Med. 2015 May;17(5):405-24. (PMID: 25741868) Inflamm Bowel Dis. 2020 May 12;26(6):820-842. (PMID: 31833544) J Crohns Colitis. 2017 Jan;11(1):60-69. (PMID: 27302973) Clin Immunol. 2022 Jul;240:109047. (PMID: 35613698) J Hum Genet. 2020 Sep;65(9):743-750. (PMID: 32313197) Adv Anat Pathol. 2022 Mar 1;29(2):71-80. (PMID: 34620740) Int J Pediatr Adolesc Med. 2019 Mar;6(1):1-5. (PMID: 31304220) Nat Genet. 2001 May;28(1):73-6. (PMID: 11326280) Gastroenterology Res. 2017 Apr;10(2):65-69. (PMID: 28496525) J Pediatr Gastroenterol Nutr. 2020 Sep;71(3):333-339. (PMID: 32487952) Digestion. 2021;102(3):368-376. (PMID: 32422640) Intest Res. 2019 Jul;17(3):330-339. (PMID: 31006228) Clin Immunol. 2022 Nov;244:109131. (PMID: 36179983) Hum Mol Genet. 2014 Jun 1;23(11):2880-7. (PMID: 24403049) Clin Exp Immunol. 2022 Jun 23;208(3):281-291. (PMID: 35481870) Nucleic Acids Res. 2010 Jul;38(Web Server issue):W695-9. (PMID: 20439314) J Inherit Metab Dis. 2021 Nov;44(6):1441-1452. (PMID: 34389986) Aliment Pharmacol Ther. 2022 Jun;55(11):1414-1422. (PMID: 35187668) |
| معلومات مُعتمدة: | Oxford Biomedical Research Centre; Leona M. and Harry B. Helmsley Charitable Trust |
| فهرسة مساهمة: | Keywords: VEO-IBD; hematopoietic stem cell transplantation; inborn error of immunity; inflammatory bowel disease; monogenic IBD; primary immunodeficiency |
| المشرفين على المادة: | EC 2.7.11.10 (I-kappa B Kinase) 0 (Receptors, Interleukin-10) |
| تواريخ الأحداث: | Date Created: 20240423 Date Completed: 20240620 Latest Revision: 20240622 |
| رمز التحديث: | 20240622 |
| مُعرف محوري في PubMed: | PMC11188541 |
| DOI: | 10.1093/cei/uxae037 |
| PMID: | 38651248 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1365-2249 |
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| DOI: | 10.1093/cei/uxae037 |