Misdiagnosed Hereditary Angioedema with Recurrent Abdominal Pain: A Novel SERPING1 Frameshift Variant
HAE is a rare disease that is often misdiagnosed. Complement C4 remains a critical screening biomarker for patients with HAE. In addition, we reported a novel frameshift variant in the coding region of the <i>SERPING1</i> gene, and the specificity of the position offers a unique point of interest in the discussion of the disease's causative locus.
Authors
- Xiaojun Tan (ORCID: https://orcid.org/0000-0002-1094-4465)
- Yueming Li (ORCID: https://orcid.org/0009-0001-4958-3337)
- Rui Wen (ORCID: https://orcid.org/0000-0001-8241-698X)
- S. Q. Qu (ORCID: https://orcid.org/0009-0007-3606-3432)
- Tsung-ch'ang Hou
- Jiao Qin (ORCID: https://orcid.org/0009-0001-0816-8081)
- Rou Xie
Institutions
- Central South University (CN)
- Changsha Medical University (CN)
- University of South China (CN)
Publication Details
- Journal
- Journal of Asthma and Allergy
- Published
- 2025-10-01
- DOI
- https://doi.org/10.2147/jaa.s536943
- Primary Topic
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Education Department of Hunan Province
- Natural Science Foundation of Hunan Province