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\begin{document}

\title{Relevance of epigenetic alterations of \emph{H19} locus with androgen
and estrogen in patients with C1-inhibitor deficiency}



\author[1]{Sujoy Khan}%
\author[2]{Hilary Longhurst}%
\affil[1]{Hull University Teaching Hospitals NHS Trust}%
\affil[2]{Addenbrooke's Hospital}%


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  \date{May 27, 2024}


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\begin{abstract}
The interesting report by Karagianni P et al on the finding of increased
DNA methylation of \emph{H19} locus imprinting control region in saliva
samples of Sj\selectlanguage{ngerman}ögren's syndrome patients correlating with low complement
C4 levels, may offer insights into how C4 level may be regulated in
serpinopathies such as C1-inhibitor deficiency. An undetectable or low
C4 level in patients with severe angioedema is a feature of C1-inhibitor
deficiency (hereditary angioedema (HAE) type I with low to absent
function and antigenic levels; HAE type II with point mutations in
SERPING1 gene that affect the reactive centre loop affecting protein
function only). However, C4 levels do not always clinically correlate
with disease activity, and up to 6\% patients do not have known
mutations in the SERPING1 gene.%
\end{abstract}\selectlanguage{ngerman}%



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\textbf{Hosted file}

\verb`CEI Commentary.doc`  available at \url{https://authorea.com/users/349864/articles/474847-relevance-of-epigenetic-alterations-of-h19-locus-with-androgen-and-estrogen-in-patients-with-c1-inhibitor-deficiency}

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