Tehran University of Medical Sciences Iranian Journal of Allergy, Asthma and Immunology 1735-1502 0 0 2025 11 04 Phenotypic Diversity of Chronic Granulomatous Disease within a Family Carrying the Same NCF1 Gene Mutation 1 7 EN Sarvin Yazdizadeh Department of General Practice, School of Medicine, Urmia University of Medical Sciences, Urmia, Iran Mohammad Saberi Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran Abdollah Karimi Pediatric Infectious Research Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran Samin Sharafian Department of Immunology and Allergy, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran Sedigheh Rafiei Tabatabaei Pediatric Infectious Research Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran Sahar Seraj Department of Immunology and Allergy, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran Maryam Sadat Seyedmehdi Department of Cell and Molecular Biology, Faculty of Life Sciences and Biotechnology, Shahid Beheshti University, Tehran, Iran Shahrzad Fallah Department of Immunology and Allergy, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran 2025 03 26 2025 08 01 Chronic Granulomatous Disease (CGD) is a defect or abnormality in the immune system that produces severe and persistent signs and symptoms in affected individuals. Phenotypic diversity and genetic heterogeneity exist among patients with inborn errors of immunity (IEI). Symptoms may vary even when the mutations are identical; conversely, patients with different mutations may have similar clinical features. The expression of phenotype may be determined by the gene sequence, epigenetic changes, and sometimes environmental factors. Some of these outcomes are influenced by the individual’s past immunological exposure. This study discusses two CGD cases, a father and son; after the diagnosis of CGD in the child and confirmation of the genetic mutation, the same mutation was also identified in the father. Therefore, physicians should have more awareness that a single genetic mutation can have different clinical manifestations. https://ijaai.tums.ac.ir/index.php/ijaai/article/view/4355 https://ijaai.tums.ac.ir/index.php/ijaai/article/download/4355/2257