Phenotypic Diversity of Chronic Granulomatous Disease within a Family Carrying the Same NCF1 Gene Mutation

Sarvin  Yazdizadeh; Mohammad  Saberi; Abdollah  Karimi; Samin  Sharafian; Sedigheh Rafiei  Tabatabaei; Sahar  Seraj; Maryam Sadat  Seyedmehdi; Shahrzad  Fallah

doi:10.18502/ijaai.v25i3.21264

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, Ira
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

DOI: https://doi.org/10.18502/ijaai.v25i3.21264

Keywords: Chronic granulomatous disease; Consanguinity; Mutation; Neutrophil cytosolic factor 1; Phenotype

Abstract

Chronic Granulomatous Disease (CGD) is a defect or abnormality in the immune system thatproduces severe and persistent signs and symptoms in affected individuals.Phenotypic diversity and genetic heterogeneity exist among patients with inborn errors ofimmunity (IEI). Symptoms may vary even when the mutations are identical; conversely, patientswith different mutations may have similar clinical features. The expression of phenotype may bedetermined by the gene sequence, epigenetic changes, and sometimes environmental factors. Someof 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 childand 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 havedifferent clinical manifestations.