Publications by authors named "A A Bolyard"
Neutrophil elastase () mutations are the most common cause of cyclic (CyN) and congenital neutropenia (SCN), two autosomal dominant disorders causing recurrent infections due to impaired neutrophil production. Granulocyte colony-stimulating factor (G-CSF) corrects neutropenia but has adverse effects, including bone pain and in some cases, an increased risk of myelodysplasia (MDS) and acute myeloid leukemia (AML). Hematopoietic stem cell transplantation is an alternative but is limited by its complications and donor availability.
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- 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.
Article Synopsis
- - Severe chronic neutropenia leads to a low absolute neutrophil count, increasing the risk of bacterial infections, but can be treated effectively with G-CSF injections, raising questions about potential risks of further blood disorders.
- - Research from the Severe Chronic Neutropenia International Registry indicates that while there are low risks of conditions like MDS or AML, certain patient groups may be more vulnerable.
- - New oral treatments are being investigated as alternatives to G-CSF, including neutrophil elastase inhibitors and gene therapy, but their safety, effectiveness, and costs have yet to be fully evaluated.
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. We characterize a unique international cohort of 66 patients, including 57 (86%) cases previously unreported, with variable clinical phenotypes. Of 17 distinct CXCR4 genetic variants within our cohort, 11 were novel pathogenic variants affecting 15 individuals (23%).
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