Repository of Research and Investigative Information

Repository of Research and Investigative Information

Kurdistan University of Medical Sciences

Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR)

(2020) Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR). Immunological Investigations.

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Abstract

We describe a cohort of 25 Iranian patients with infantile inflammatory bowel disease (IBD), 14 (56%) of whom had monogenic defects. After proper screening, patients were referred for whole exome sequencing (WES). Four patients had missense mutations in the IL10 RA, and one had a large deletion in the IL10 RB. Four patients had mutations in genes implicated in host:microbiome homeostasis, including TTC7A deficiency, and two patients with novel mutations in the TTC37 and NOX1. We found a novel homozygous mutation in the SRP54 in a deceased patient and the heterozygous variant in his sibling with a milder phenotype. Three patients had combined immunodeficiency: one with ZAP-70 deficiency (T+B+NK−), and two with atypical SCID due to mutations in RAG1 and LIG4. One patient had a G6PC3 mutation without neutropenia. Eleven of the 14 patients with monogenic defects were results of consanguinity and only 4 of them were alive to this date.

Item Type: Article
Keywords: G6Pc3IL-10 ReceptorSRP54TTC37Very-early-onset inflammatory bowel diseasewhole Exome Sequencing
Subjects: WI Digestive System > WI 190-260 Gastrointestinal Tract
Divisions: Education Vice-Chancellor Department > Faculty of Medicine > Department of Basic Science > Immunology Department
Page Range: pp. 1-15
Journal or Publication Title: Immunological Investigations
Journal Index: ISI, Pubmed, Scopus
Publisher: Taylor and Francis Ltd
Identification Number: 10.1080/08820139.2020.1776725
ISSN: 08820139
Depositing User: دکتر علیرضا غریب
URI: http://eprints.muk.ac.ir/id/eprint/4695

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