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Rahmani, Farzaneh; Rayzan, Elham; Rahmani, Mohammad Reza; Shahkarami, Sepideh; Zoghi, Samaneh; Rezaei, Arezoo; Aryan, Zahra; Najaf, Mehri; Rohlfs, Meino; Jeske, Tim; Aflatoonian, Majid; Chavoshzadeh, Zahra; Farahnnand, Fatemeh; Motamed, Farzaneh; Rohani, Pejman; Alinnadadi, Hossein; Mandaviani, Alireza; Mansouri, Mahboubeh; Tavakol, Marzieh; Vanderberg, Mirjam; Kotlarz, Daniel; Klein, Christoph; Rezaei, Nima (2020): Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR). In: Immunological Investigations, Vol. 50, No. 4: pp. 445-459
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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 theIL10 RA, and one had a large deletion in theIL10 RB. Four patients had mutations in genes implicated in host:microbiome homeostasis, includingTTC7Adeficiency, and two patients with novel mutations in theTTC37andNOX1. We found a novel homozygous mutation in theSRP54in 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 inRAG1andLIG4. One patient had aG6PC3mutation without neutropenia. Eleven of the 14 patients with monogenic defects were results of consanguinity and only 4 of them were alive to this date.