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Original Article
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.
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

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...

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...
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....