Article
Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR).
Immunological investigations - 1 May 2021
Rahmani Farzaneh, Rayzan Elham, Rahmani Mohammad Reza, Shahkarami Sepideh, Zoghi Samaneh, Rezaei Arezoo, Aryan Zahra, Najafi Mehri, Rohlfs Meino, Jeske Tim, Aflatoonian Majid, Chavoshzadeh Zahra, Farahmand Fatemeh, Motamed Farzaneh, Rohani Pejman, Alimadadi Hossein, Mahdaviani Alireza, Mansouri Mahboubeh, Tavakol Marzieh, Vanderberg Mirjam, Kotlarz Daniel, Klein Christoph, Rezaei Nima
Abstract excerpt
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...
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