Tehran University of Medical Sciences

Science Communicator Platform

Share By
Phenotypic Diversity of Chronic Granulomatous Disease Within a Family Carrying the Same Ncf1 Gene Mutation Publisher Pubmed



Yazdizadeh S ; Saberi M ; Karimi A ; Sharafian S ; Tabatabaei SR ; Seraj S ; Seyedmehdi MS ; Fallah S
Authors

Source: Iranian Journal of Allergy, Asthma and Immunology Published:2026


Abstract

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. Copyright © 2026 Yazdizadeh et al.
Related Docs
View other Related Docs
1. The Spectrum of Atm Gene Mutations in Iranian Patients With Ataxia-Telangiectasia, Pediatric Allergy and Immunology (2021)
2. Human Inborn Errors of Immunity: 2024 Update on the Classification From the International Union of Immunological Societies Expert Committee, Journal of Human Immunity (2025)
3. Overview of Clinical Presentation: Pathologic and Radiologic Findings of Gaucher Disease, Gaucher Disease: An Updated Guide to Diagnosis and Management and patients presentation (2025)
Experts (# of related papers)
View all Related Experts
Nima Rezaei (5)
Parastoo Rostami (2)
Other Related Docs
4. Identification of Eleven Different Mutations Including Six Novel, in the Arylsulfatase B Gene in Iranian Patients With Mucopolysaccharidosis Type Vi, Molecular Biology Reports (2019)
5. Genetic and Molecular Findings of 38 Iranian Patients With Chronic Granulomatous Disease Caused by P47-Phox Defect, Scandinavian Journal of Immunology (2019)
6. A Novel Homozygous Rag1 Mutation Is Associated With Severe Combined Immunodeficiency and Neurological Presentations, Allergologia et Immunopathologia (2021)
7. Clinical Heterogeneity in Families With Multiple Cases of Inborn Errors of Immunity, Clinical Immunology (2024)
8. Dna Repair-Related Heritable Photosensitivity Syndromes: Mutation Landscape in a Multiethnic Cohort of 17 Multigenerational Families With High Degree of Consanguinity, DNA Repair (2024)
9. Genetic Mutations and Immunological Features of Severe Combined Immunodeficiency Patients in Iran, Immunology Letters (2019)
10. Diagnostic Whole Exome Sequencing in Presumably Autosomal Recessive Inherited Retinal Dystrophies in an Iranian Population, Scientific Reports (2025)
11. Next-Generation Sequencing Identified Novel Truncating Mutations in Bbs9 Causing Bardet Biedl Syndrome in Two Iranian Consanguineous Families, Iranian Journal of Child Neurology (2022)
12. From Variant of Uncertain Significance to Likely Pathogenic in Two Siblings With Atypical Rag2 Deficiency: A Case Report and Review of the Literature, BMC Pediatrics (2024)
13. Genotype-Phenotype Correlation and Description of Two Novel Mutations in Iranian Patients With Glycogen Storage Disease 1B (Gsd1b), Orphanet Journal of Rare Diseases (2020)
14. A Case Series: Congenital Hyperinsulinism, International Journal of Endocrinology and Metabolism (2016)
15. High Occurrence of a Missense Variant (C.471C>A) in the Fgf23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect, Human Mutation (2025)
16. Clinical Implications of Systematic Phenotyping and Exome Sequencing in Patients With Primary Antibody Deficiency, Genetics in Medicine (2019)
17. Bvvl/ Fl: Features Caused by Slc52a3 Mutations; Wdfy4 and Tnfsf13b May Be Novel Causative Genes, Neurobiology of Aging (2021)
18. Common Mutations of the Methylenetetrahydrofolate Reductase (Mthfr) Gene in Non-Syndromic Cleft Lips and Palates Children in North-West of Iran, Iranian Journal of Otorhinolaryngology (2015)