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The efficacy and durability of SARS-CoV-2 immunological antibody response in Immunodeficiency Disorder (ID) patients (including Primary Immunodeficiency) can be utilized in their clinical management to avoid COVID-19 infection. We correlated SARS-CoV-2 antibody semi-quantitative test results with ID patients’ COVID-19 vaccinations, their timing, IVIG infusions, and clinical outcomes.
Hereditary Angioedema (HAE) is a rare autosomal dominant genetic disease frequently caused by mutations in the C1 inhibitor gene SERPING1, resulting in dysregulated kallikrein–kinin system (KKS) and overproduction of bradykinin. Despite a constellation of pathogenic mutations identified in SERPING1 and 5 others genes in the KKS pathway, genetic diagnosis of some patients with unknown HAE causing mutations but clear HAE clinical presentations are elusive.
HAE types I and II are caused by a deficiency of functional C1 inhibitor (fC1-INH), leading to overproduction of bradykinin. Specific and sensitive methods to quantitate fC1-INH are required for accurate and timely diagnosis of HAE. Two commercially available assays either measure residual C1-esterase (C1s) activity or a complex ELISA measuring activated C1s.
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