Tehran University of Medical Sciences Immunology and Genetics Journal 2645-4831 4 3 2021 09 22 166 170 Saba Arshi 1. Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran Mohammad Nabavi 1. Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran Mohammad Hasan Bemanian 1. Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran Morteza Fallahpour 1. Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran Samaneh Delavari Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran Nima Rezaei 2. Research Center for Primary Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran Sima Shokri 1. Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran 2023 01 02 2023 02 27 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. https://igj.tums.ac.ir/index.php/igj/article/view/116 https://igj.tums.ac.ir/index.php/igj/article/download/116/81