Disease-modifying factors in hereditary angioedema: an RNA expression-based screening.

ABSTRACT:

Background

Hereditary Angioedema due to C1-Inhibitor deficiency (HAE types I and II) is a monogenic disease characterized by sudden, self-limited episodes of cutaneous and mucosal swelling due to local deregulation of vascular permeability. Despite its monogenic pattern of inheritance, HAE exhibits great clinical variability and low genotype/phenotype correlation among those affected, which ultimately hinders therapeutic approach and probably underlies yet unknown genetic and environmental factors.

Methods

We studied whole-genome RNA expression of PBMCs in three HAE type-I families (accounting for 40 individuals), 24 of which carry the same R472X mutation in the C1-Inhibitor gene and show large variability in terms of disease expression. Those included in this study were ana

SUBMITTER: Lopez-Lera A 

PROVIDER: S-EPMC3671971 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature