Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR).
G6Pc3
IL-10 Receptor
SRP54
TTC37
Very-early-onset inflammatory bowel disease
whole Exome Sequencing
Journal
Immunological investigations
ISSN: 1532-4311
Titre abrégé: Immunol Invest
Pays: England
ID NLM: 8504629
Informations de publication
Date de publication:
May 2021
May 2021
Historique:
pubmed:
8
7
2020
medline:
9
11
2021
entrez:
8
7
2020
Statut:
ppublish
Résumé
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
Identifiants
pubmed: 32633164
doi: 10.1080/08820139.2020.1776725
doi:
Substances chimiques
Receptors, Interleukin-10
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM