JBCGenetics |

Original Article

Published: Jun 25, 2025 | DOI: 10.24911/JBCGenetics.183-1742198402

Genetic characterization and clinical correlation in a cohort of Turkish patients with immunodeficiency: insights from whole exome sequencing

Authors: Aslı Güner Öztürk Demir , Akif Ayaz , Serdar Nepesov , Alper Gezdirici , Muhsin Elmas

Article Info

Authors

Aslı Güner Öztürk Demir

Department of Genetic Disorders Evaluation Center, İstanbul Medipol University, İstanbul, Turkey

ORCID

Akif Ayaz

Department of Genetic Disorders Evaluation Center, İstinye University, İstanbul, Turkey

ORCID

Serdar Nepesov

Department of Pediatric Immunology and Allergy, Bahçeşehir University Medical Park Göztepe Hospital, İstanbul, Turkey

ORCID

Alper Gezdirici

Department of Genetic Disorders Evaluation Center, Istanbul Başakşehir Cam and Sakura City Hospital, İstanbul, Turkey

ORCID

Muhsin Elmas

Department of Genetic Disorders Evaluation Center, İstanbul Medipol University, İstanbul, Turkey

Publication History

Received: March 17, 2025

Accepted: June 17, 2025

Published: June 25, 2025

Abstract

Background: This retrospective study aims to present the clinical and genetic data of patients diagnosed with immunodeficiency through genetic diagnostic methods. It is essential to investigate the impact of genetic risk factors, such as consanguinity, on immunodeficiency, identify the underlying genetic variants, and assess potential risks. Identifying genetic defects in patients with unknown etiology is critical for accurate diagnosis and effective treatment.

Methodology: Patient histories were evaluated, and detailed clinical findings were recorded. Genetic analyses were performed, identifying eight different variants consistent with autosomal recessive inheritance. The American College of Medical Genetics and Genomics classification criteria were utilized to assess several pathogenic and likely pathogenic variants associated with various immunodeficiency disorders.

Results: Several pathogenic and likely pathogenic variants were identified, related to immunodeficiency disorders such as severe combined ımmunodeficiency due to ADA deficiency and LIG4 syndrome. A significant proportion of patients had a history of consanguinity. The clinical variability observed emphasizes the importance of comprehensive genetic evaluation. Whole exome sequencing (WES) proved effective in uncovering the genetic causes of unexplained immunodeficiency symptoms.

Conclusion: This study highlights the critical role of genetic testing in diagnosing immunodeficiency disorders. WES and next-generation sequencing technologies were particularly useful in identifying the genetic basis of immunodeficiency in patients with unexplained symptoms. Genetic evaluation enables personalized treatment strategies, improving patient management and outcomes. Comprehensive genetic assessments are especially important in populations with high consanguinity rates.

Keywords: Immunodeficiency, consanguinity, whole exome sequencing (WES).

Pubmed Style

Aslı Güner Öztürk Demir, Akif Ayaz, Serdar Nepesov, Alper Gezdirici, Muhsin Elmas. Genetic characterization and clinical correlation in a cohort of Turkish patients with immunodeficiency: insights from whole exome sequencing. JBC Genetics. 2025; 25 (June 2025): -. doi:10.24911/JBCGenetics.183-1742198402

Web Style

Aslı Güner Öztürk Demir, Akif Ayaz, Serdar Nepesov, Alper Gezdirici, Muhsin Elmas. Genetic characterization and clinical correlation in a cohort of Turkish patients with immunodeficiency: insights from whole exome sequencing. https://www.jbcgenetics.com/articles/2292 [Access: July 31, 2025]. doi:10.24911/JBCGenetics.183-1742198402

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Aslı Güner Öztürk Demir, Akif Ayaz, Serdar Nepesov, Alper Gezdirici, Muhsin Elmas. Genetic characterization and clinical correlation in a cohort of Turkish patients with immunodeficiency: insights from whole exome sequencing. JBC Genetics. (2025), [cited July 31, 2025]; 25 (June 2025): -. doi:10.24911/JBCGenetics.183-1742198402

Harvard Style

Aslı Güner Öztürk Demir, Akif Ayaz, Serdar Nepesov, Alper Gezdirici, Muhsin Elmas (2025) Genetic characterization and clinical correlation in a cohort of Turkish patients with immunodeficiency: insights from whole exome sequencing. JBC Genetics, 25 (June 2025): -. doi:10.24911/JBCGenetics.183-1742198402

Chicago Style

Aslı Güner Öztürk Demir, Akif Ayaz, Serdar Nepesov, Alper Gezdirici, Muhsin Elmas. "Genetic characterization and clinical correlation in a cohort of Turkish patients with immunodeficiency: insights from whole exome sequencing." 25 (2025), -. doi:10.24911/JBCGenetics.183-1742198402

MLA (The Modern Language Association) Style

Aslı Güner Öztürk Demir, Akif Ayaz, Serdar Nepesov, Alper Gezdirici, Muhsin Elmas. "Genetic characterization and clinical correlation in a cohort of Turkish patients with immunodeficiency: insights from whole exome sequencing." 25.June 2025 (2025), -. Print. doi:10.24911/JBCGenetics.183-1742198402

APA (American Psychological Association) Style

Aslı Güner Öztürk Demir, Akif Ayaz, Serdar Nepesov, Alper Gezdirici, Muhsin Elmas (2025) Genetic characterization and clinical correlation in a cohort of Turkish patients with immunodeficiency: insights from whole exome sequencing. , 25 (June 2025), -. doi:10.24911/JBCGenetics.183-1742198402