Immunological investigations · 2020
Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR).
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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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
Аннотация
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.