Publications by authors named "Mathieu Wald"
Article Synopsis
- The study focuses on a patient with a new heterozygous missense mutation that leads to chronic mucocutaneous candidiasis (CMC) along with other symptoms like recurrent pneumonia and skin issues resembling rosacea.
- Genetic analysis using next-generation sequencing helped identify the novel mutation (c.884C>A), classified as a gain-of-function variant.
- The findings suggest that this mutation is associated with both CMC and a new phenotype of rosacea-like demodicosis, indicating a need to recognize this skin condition in patients with similar genetic mutations.
Microbiological Outcomes Associated With Low Leukocyte Counts in Cerebrospinal Fluid.
Open Forum Infect Dis
February 2021
The significance of low leukocyte counts in cerebrospinal fluid (CSF) remains unclear. We performed a 2-year retrospective study to examine microbiological outcomes associated with CSF leukocytes at 6-10/mm. Of the 178 samples examined, we detected positive results for 11 samples, including 5 cases of tick-borne encephalitis virus infection.
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