Year: 2025
Type: article
Study design: Case Report
Abstract: Background Hemophagocytic lymphohistiocytosis (HLH) is an excessive immune activation syndrome. The genetic studies on every patient diagnosed with HLH recently became a standard of care. The likelihood of identifying a gene mutation is highest in the youngest patients. Results [Four HLH patients had changes in the following five genes](mailto:[email protected]): [NLRP1 (c.923G>A)](mailto:[email protected]), [DOCK 8 (Dedicator of Cytokinesis 8) (c.3067A>G)](mailto:[email protected]), [AIRE gene (c.10G>A) and one in the RNASEH2B (c.649T>C)](mailto:[email protected]), [PSTPIP1 (c.1213C>T)](mailto:[email protected]). No mutations in genes previously associated with HLH syndrome were found. Conclusions [The described cases show that genetic analysis is helpful for the diagnosis of HLH in pediatric patients. The functional analysis of a putative mutation is essential for understanding the pathological mechanism; while not every change in DNA might be responsible for the disease. Each patient might have different mutations; however, they all develop the same clinical outcome. Disruption at different levels can result in a similar picture.](mailto:[email protected])
Source: Pediatric Rheumatology
Institution: Poznan University of Medical Sciences
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,090
OpenAlex ID: W4416504390