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



Rahmani F^{1, 2, 3} ; Rayzan E^{4, 5} ; Rahmani MR⁶ ; Shahkarami S⁷ ; Zoghi S⁸ ; Rezaei A⁵ ; Aryan Z⁵ ; Najafi M⁹ ; Rohlfs M¹⁰ ; Jeske T¹⁰ ; Aflatoonian M¹¹ ; Chavoshzadeh Z¹² ; Farahmand F⁹ ; Motamed F⁹ Show All Authors
Source: Immunological Investigations Published:2020

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. © 2020, © 2020 Taylor & Francis Group, LLC.