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

Publisher: Informa Healthcare Country of Publication: England NLM ID: 8504629 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-4311 (Electronic) Linking ISSN: 08820139 NLM ISO Abbreviation: Immunol Invest Subsets: MEDLINE

Publication: London : Informa Healthcare
Original Publication: New York, N.Y. : M. Dekker, c1985-

Inflammatory Bowel Diseases/*genetics ; Primary Immunodeficiency Diseases/*genetics; Child, Preschool ; Cohort Studies ; Diarrhea/genetics ; Female ; Humans ; Infant ; Infant, Newborn ; Iran ; Male ; Mutation ; Receptors, Interleukin-10/genetics ; Registries ; Exome Sequencing

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.

Keywords: G6Pc3; IL-10 Receptor; SRP54; TTC37; Very-early-onset inflammatory bowel disease; whole Exome Sequencing

0 (Receptors, Interleukin-10)

Date Created: 20200708 Date Completed: 20211108 Latest Revision: 20221207

20240628

10.1080/08820139.2020.1776725

32633164