Publications by authors named "C J Wysocki"
Common variable immunodeficiency (CVID) is a disorder characterized by hypogammaglobulinemia resulting in recurrent infections. While autoimmune disorders are common in patients with CVID, no association has been reported between CVID and immune thrombotic thrombocytopenic purpura (iTTP), a disorder most often caused by autoantibodies that compromise the activity of the enzyme ADAMTS13. Reduced ADAMTS13 activity results in the accumulation of large von Willebrand factor multimers that can consume platelets and cause microvascular thrombosis and organ injury, ultimately resulting in mortality in most cases of untreated iTTP.
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- * Genetic testing revealed a new biallelic STK4 mutation, correlating with low CD4 T-cell counts but normal CD3 cell levels, predominantly showing an expansion of a specific type of T-cell (Vδ2 γδ T cells).
- * This γδ T-cell expansion may serve as a compensatory immune response, helping to protect individuals with weakened immune systems from viral infections.
Article Synopsis
- A phase 3 trial was conducted to evaluate the efficacy and safety of mavorixafor, an oral medication, in individuals with WHIM syndrome, a rare immunodeficiency disorder caused by genetic mutations.
- Participants were randomly assigned to receive either mavorixafor or a placebo for 52 weeks, with the study focusing on the time above certain white blood cell counts as the primary endpoint.
- Results showed mavorixafor significantly increased white blood cell counts, reduced infection rates and severity, and was well tolerated without serious adverse events occurring during the study.
Common variable immunodeficiency (CVID) has been subdivided into five phenotypes, including one marked by non-infectious enteropathies that lead to significant morbidity and mortality. We examined a large national registry of patients with CVID to better characterize this population and understand how the presence of enteropathy influences nutritional status, patient function, and the risk of additional non-infectious disorders in CVID patients. We also sought to illustrate the range of treatment strategies for CVID-associated enteropathies.
View Article and Find Full Text PDFBackground: Thymus hypoplasia due to stromal cell problems has been linked to mutations in several transcription factors, including Forkhead box N1 (FOXN1). FOXN1 supports T-cell development by regulating the formation and expansion of thymic epithelial cells (TECs). While autosomal recessive FOXN1 mutations result in a nude and severe combined immunodeficiency phenotype, the impact of single-allelic or compound heterozygous FOXN1 mutations is less well-defined.
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