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Genomic Testing Identifies Monogenic Causes in Patients With Very Early-Onset Inflammatory Bowel Disease: A Multicenter Survey in an Iranian Cohort Publisher Pubmed



Eslamian G1 ; Jamee M1, 2, 3 ; Momen T4 ; Rohani P5 ; Ebrahimi S6 ; Mesdaghi M1 ; Ghadimi S7 ; Mansouri M1 ; Mahdaviani SA8 ; Sadeghishabestari M9 ; Fallahpour M10 ; Shamsian BS11 ; Eslami N1 ; Sharafian S1 Show All Authors
Authors
  1. Eslamian G1
  2. Jamee M1, 2, 3
  3. Momen T4
  4. Rohani P5
  5. Ebrahimi S6
  6. Mesdaghi M1
  7. Ghadimi S7
  8. Mansouri M1
  9. Mahdaviani SA8
  10. Sadeghishabestari M9
  11. Fallahpour M10
  12. Shamsian BS11
  13. Eslami N1
  14. Sharafian S1
  15. Dara N12
  16. Nasri P4, 13
  17. Amini N4
  18. Enayat J1
  19. Fallahi M1
  20. Hashtrodi LG14
  21. Shojaei M15
  22. Becerra MG16, 17
  23. Uhlig HH16, 17, 18
  24. Chavoshzadeh Z1

Source: Clinical and Experimental Immunology Published:2024


Abstract

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.
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