Open AccessHereditary angioedema with a novel mutation, c.1481G>C, in the SERPING1 gene
Author(s) -
TakimotoIto Riko,
Kambe Naotomo,
Izawa Kazushi,
Yasumi Takahiro,
Kabashima Kenji
Publication year - 2021
Publication title -
journal of cutaneous immunology and allergy
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.127
H-Index - 1
ISSN - 2574-4593
DOI - 10.1002/cia2.12161
Subject(s) - hereditary angioedema , pathogenesis , mutation , gene , genetics , gene mutation , disease , angioedema , medicine , biology , immunology , pathology
Hereditary angioedema (HAE) is an autosomal dominant disease with recurrent attacks of cutaneous and submucosal swelling caused by mutations in the SERPING1 gene. Here, we report a Japanese case of HAE with a novel mutation in the SERPING1 gene. Accumulation of gene mutations will facilitate the elucidation of HAE pathogenesis and the development of the effective treatments.