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Background <p>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.</p> Results <p>Four HLH patients had changes in the following five genes: <i>NLRP1</i> (c·923 G &gt; A), <i>DOCK 8</i> (Dedicator of Cytokinesis 8) (c·3067A &gt; G), <i>AIRE</i> gene (c·10 G &gt; A) and one in the <i>RNASEH2B</i> (c·649T &gt; C), <i>PSTPIP1</i> (c·1213C &gt; T). No mutations in genes previously associated with HLH syndrome were found.</p> Conclusions <p>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.</p>

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Analysis of genes involved in immune response in children with HLH – case series

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月21日

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  • Ewelina Gowin,
  • Witold Szaflarski,
  • Danuta Januszkiewicz-Lewandowska

摘要

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: NLRP1 (c·923 G > A), DOCK 8 (Dedicator of Cytokinesis 8) (c·3067A > G), AIRE gene (c·10 G > A) and one in the RNASEH2B (c·649T > C), PSTPIP1 (c·1213C > T). 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.