Clinical and Experimental Pediatrics

Original Article

Infection

Association between vitamin D polymorphisms and binding protein and COVID-19 risk and severity in children

Victoria Giatraki, Helen Dimitriou, Georgia Martimianaki, Christos Tsatsanis, Emmanouil Galanakis, Chrysoula Perdikogianni

Clin Exp Pediatr. 2025;68(12):998-1006. Published online October 22, 2025

Question: Addressing crucial genetic variants within the vitamin D pathway and coronavirus disease 2019 (COVID-19) susceptibility, the vitamin D receptor, vitamin D binding protein, and CYP27B1-1260 polmorphisms might be associated with COVID-19 occurrence and severity in children.
Finding: The FokI FF genotype might be an independent risk factor for COVID-19 severity in childhood.
Meaning: This research may further elucidate genetic susceptibility to multisystem viral infections and establish genetic markers for severe clinical outcomes.

DOI: https://doi.org/10.3345/cep.2025.00577

Pulmonology

Association of macrophage migration-inhibitory factor gene and growth differentiation factor 15 gene polymorphisms and their circulating levels with respiratory distress syndrome among preterm neonates

Ali Helmi Bakri, Mohammed H. Hassan, Khaled Abdalla Abd-Elbaseer, Mahmoud Abo-Alhassan Sayed, Ahmed Alamir Mahmoud Abdallah, Eman Ahmed Abd-Elmawgood

Clin Exp Pediatr. 2025;68(9):680-689. Published online April 1, 2025

Web of Science 2

Question: Do macrophage migration-inhibitory factor (MIF) and growth differentiation factor-15 (GDF-15) levels and their gene polymorphisms affect RDS among preterm babies?
Finding: Significantly higher serum MIF and GDF-15 levels were observed in patients with severe respiratory distress syndrome (RDS). The mutant G- and C-alleles of GDF-15 rs4808793 C>G single nucleotide polymorphism (SNP) and MIF rs755622 G>C SNP were present at significantly higher frequencies in preterm neonates with RDS.
Meaning: MIF and GDF-15 play a significant role in neonatal RDS and its severity.

DOI: https://doi.org/10.3345/cep.2025.00416

Infection

Clinical, biochemical, and genetic study of TACE/TNF-α/ACE signaling pathway in pediatric COVID-19 infection

Ahmed El-Abd Ahmed, Sawsan M.A. Abuhamdah, Mohammed H. Hassan, Nagwan I. Rashwan, Eman A. Abd-Elmawgood, Haggagy Mansour, Hoda S. Sherkawy, Shymaa G. Rizk

Clin Exp Pediatr. 2024;67(12):704-717. Published online November 27, 2024

Question: Is the tumor necrosis factor (TNF) signaling pathway (TNF-α-converting enzyme [TACE]/TNF-α/angiotensin converting enzyme [ACE]) involved in pediatric coronavirus disease 2019 (COVID-19) infection?
Finding: Significantly increased circulating TACE/TNF-α and decreased ACE2 levels were noted. TNF-α-308G/A plays a significant role in susceptibility to COVID-19 infection among children. The ACE (I/D) (rs4646994) and ACE2 (rs2285666) single nucleotide polymorphisms lack significant associations with pediatric COVID-19 infection.
Meaning: The TNF signaling pathway participates in pediatric COVID-19 infection.

DOI: https://doi.org/10.3345/cep.2024.00941

Case Report

Immunology

A familial case of Blau syndrome caused by a novel NOD2 genetic mutation

Woojoong Kim, Eujin Park, Yo Han Ahn, Jiwon M. Lee, Hee Gyung Kang, Byung Joo Kim, Il-Soo Ha, Hae Il Cheong

Clin Exp Pediatr. 2016;59(Suppl 1):S5-S9. Published online November 30, 2016

Crossref 13

Blau syndrome (BS) is a rare autosomal dominant, inflammatory syndrome that is characterized by the clinical triad of granulomatous dermatitis, symmetric arthritis, and recurrent uveitis. Mutations in the nucleotide oligomerization domain 2 (NOD2) gene are responsible for causing BS. To date, up to 30 Blau-associated genetic mutations have been identified within this gene. We report a novel NOD2 genetic mutation...

DOI: https://doi.org/10.3345/kjp.2016.59.11.S5

Original Article

Polymorphisms of the NR3C1 gene in Korean children with nephrotic syndrome

Hee Yeon Cho, Hyun Jin Choi, So Hee Lee, Hyun Kyung Lee, Hee Kyung Kang, Il Soo Ha, Yong Choi, Hae Il Cheong

Clin Exp Pediatr. 2009;52(11):1260-1266. Published online November 15, 2009

Purpose : Idiopathic nephrotic syndrome (NS) can be clinically classified as steroid-sensitive and steroid-resistant. The detailed mechanism of glucocorticoid action in NS is currently unknown. Methods : In this study, we investigated 3 known single nucleotide polymorphisms (SNPs) (ER22/23EK, N363S, and BclI) of the glucocorticoid receptor gene (the NR3C1 gene) in 190 children with NS using polymerase chain reaction-restriction fragment...

PDF

Medical Lecture Course

Impact of Host Genetics on Susceptibility and Outcome of Viral Infections

Eun Hwa Choi

Clin Exp Pediatr. 2004;47(8):815-820. Published online August 15, 2004

The generation of a draft sequence of the human genome has lead to an opportunity to characterize human diversity, including the differences in host response to numerous pathogens. Host responses upon exposure to a pathogen can determine the wide spectrum of illness from subclinical or mild to severe diseases. Host factors, particularly genetic backgrounds, influence the pathogenesis of infectious diseases....

PDF

Cited By 32	Prevalence of anxiety, depression, and stress among parents of neonates admitted to neonatal intensive care unit: a systematic review and meta-analysis
Cited By 26	Microplastic and human health with focus on pediatric well-being: a comprehensive review and call for future studies
Cited By 25	Community-acquired pneumonia in children: updated perspectives on its etiology, diagnosis, and treatment
Cited By 19	Development of orphan drugs for rare diseases
Cited By 18	Neonatal family-centered care: evidence and practice models

Search