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Analysis of genes involved in immune response in children with HLH - case series
Ewelina Gowin1, Witold Szaflarski2, Danuta Januszkiewicz-Lewandowska3
1Department of Immunology, Department of Health Promotion Poznan University of Medical Sciences Poland, Poznań, Poland. ewego@ump.edu.pl.
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.
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