Publications by authors named "G Witzke"
Gene Mutations Linked to Hereditary Angioedema in Solitary Angioedema Patients With Normal C1 Inhibitor.
J Allergy Clin Immunol Pract
August 2023
Background: Chronic recurrent angioedema without wheals (CRA) with normal C1 inhibitor (C1-INH) that is unresponsive to antihistamines may involve patients with recurrent angioedema of unknown cause (ie, so-called non-histaminergic idiopathic angioedema) as well as patients with hereditary angioedema with normal C1-INH (HAEnCI) when HAEnCI occurs in only one family member.
Objective: To identify patients with one of type of HAEnCI in a group of patients with CRA with normal C1-INH that was unresponsive to antihistamines.
Methods: A total of 132 patients with CRA and normal C1-INH that was unresponsive to antihistamines underwent mutational and clinical analysis.
Background: Hereditary angioedema (HAE) may be caused by a genetic deficiency of functional C1 inhibitor (C1-INH) or linked with mutations in the F12, PLG, and other genes in combination with normal C1-INH (HAEnCI). Although the types of hereditary angioedema due to deficiency of functional C1 inhibitor and HAEnCI are autosomal dominant inherited, there is the impression that in the types of HAEnCI more females carry disease-linked mutations.
Objective: The aim of this study was to analyze the passing on of the HAE-specific mutations to the next generations in families with various types of HAE.
Background: Hereditary angioedema (HAE) is a potentially fatal disorder resulting in recurrent attacks of severe swelling. It may be associated with a genetic deficiency of functional C1 inhibitor or with normal C1 inhibitor (HAEnCI). In families with HAEnCI, HAE-linked mutations in the F12, PLG, KNG1, ANGPT1, or MYOF genes have been identified.
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- Hereditary angioedema with normal C1 inhibitor (HAEnCI) causes symptoms like skin swellings and abdominal attacks, which can lead to asphyxia; various gene mutations contribute to different HAEnCI types.
- A literature review identified 132 records, detailing 602 cases across 220 families, focusing on patients with genetically confirmed HAEnCI diagnoses.
- Key findings revealed that estrogen negatively affected disease progression mainly in HAE-FXII, where it was implicated in 252 out of 277 female patients, while notable symptoms like tongue swelling were observed in HAE-PLG patients.
Background: Hereditary angioedema (HAE) in patients with normal C1 inhibitor (C1-INH) and the c.988A > G (p.Lys330Glu; p.
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