Publications by authors named "Edwin Pardo-Diaz"
Kawasaki disease (KD) is an acute systemic vasculitis of unknown etiology. KD can be complicated with macrophage activation syndrome. The optimal treatment for this KD complication has not been established, and a variety of treatments have been used.
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- Familial hemophagocytic lymphohistiocytosis (FHL) is a rare disorder that affects the immune system, leading to uncontrolled activation of macrophages and impaired cytotoxic cells.
- The study describes four patients with FHL type 2 from Latin America, with one diagnosed at 2 months old and the others diagnosed later in childhood, revealing two known genetic mutations (L17fsx50 and R54C).
- A prevalent genetic haplotype (R54C/A91V) was found in most patients, indicating it may lead to later onset of the disease, underlining the importance of genetic testing for accurate diagnosis of FHL.