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Article

Insights into the pathogenesis of hereditary angioedema using genetic sequencing and recombinant protein expression analyses.

The Journal of allergy and clinical immunology - 1 Apr 2023

Ren Zhen, Zhao Shuangxia, Li Tiandao, Wedner H James, Atkinson John P

Abstract excerpt

BACKGROUND: The pathogenesis of hereditary angioedema (HAE) type I and type II is linked to defective C1 esterase inhibitor (C1-INH) encoded by the SERPING1 gene. There are substantial variabilities in the clinical presentations of patients with HAE that are not directly correlated to the serum levels of C1-INH. The impact of SERPING1 variants on C1-INH expression, structure, and function is incompletely...

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Source

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Identifiers

PMID: 36587848
DOI: 10.1016/j.jaci.2022.11.027
PMCID: PMC10449387

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Insights into the pathogenesis of hereditary angioedema using genetic sequencing and recombinant protein expression analyses.PMID 36587848Read ↗

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SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAESemantic proximity Read ↗

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