A new study published in Frontiers in Genetics has provided valuable insights into the complex gene expression dynamics in myeloid cells from patients with hereditary angioedema (HAE).

According to the results, patients with HAE have a greater number of dysregulated genes and significant alterations in their gene expression profiles compared with control individuals. However, the researchers did not identify any specific gene variant associated with disease severity.

“While the modifying effect of identified gene variants on HAE severity has not been proved, transcriptomic analysis of selected myeloid lineage cells showed that some genes were differently expressed and that the overall balance between gene expression depended on HAE severity,” the study’s authors wrote.

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In addition, the study showed that patients with HAE associated with C1 esterase inhibitor deficiency (C1-INH), in particular those carrying mutations that potentially activate nonsense-mediated decay, exhibited reduced expression of SERPING1.

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Among the dysregulated genes in patients with HAE were proinflammatory CXC chemokine superfamily members (CXCL8, CXCL10, and CXCL11), which were found to be downregulated, while FCGR1A and the long non-coding RNA NEAT1 were upregulated.

Moreover, coexpression within specific gene groups, including a gene group related to the nuclear factor kappa B function, was enhanced in patients with severe and/or mild disease courses compared with control subjects.

Altogether, these findings suggest that transcript levels in myeloid cells differ in patients with HAE with C1-INH compared with controls, potentially contributing to the HAE phenotype.

The study enrolled a cohort of 159 patients with HAE from the Czech Republic for DNA analysis. Transcriptomic analysis was conducted in a subset of 40 patients and 20 healthy controls.


Ballonová L, Souček P, Slanina P, et al. Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity. Front Genet. Published online July 4, 2023. doi:10.3389/fgene.2023.1123914.