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

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.