The Novel ZBTB24 Mutation Identified in an Iranian Patient with Type 2 ICF Syndrome

Saba Arshi; Mohammad Nabavi; Mohammad Hasan Bemanian; Morteza Fallahpour; Samaneh Delavari; Nima Rezaei; Sima Shokri

doi:10.18502/igj.v4i3.12117

Saba Arshi Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran
Mohammad Nabavi Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran
Mohammad Hasan Bemanian Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran
Morteza Fallahpour Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran
Samaneh Delavari Research Center for Primary Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
Nima Rezaei Research Center for Primary Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
Sima Shokri Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran

DOI: https://doi.org/10.18502/igj.v4i3.12117

Keywords: Chromosomal Instability; Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome; Mental Retardation

Abstract

Autosomal-recessive immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is mainly determined by recurrent tract respiratory and gastrointestinal infections in early childhood due to agammaglobulinemia. Most patients with ICF syndrome die of infection at a young age, usually in the first or second decade of life. The leading cause of ICF disorders is mutations in genes whose products play a role in DNA methylation. ICF syndrome is classified into two groups: type 1 (ICF1) patients have mutations in the DNMT3B gene, and about half of type 2 (ICF2) patients have mutations in the ZBTB24 gene. In this study, we report the case of a 34-year-old female of Iranian consanguineous parents, who was diagnosed at one year of age with ICF-2 syndrome with recurrent infections, mental retardation, and a homozygous novel mutation in the ZBTB24 gene.