Myeloperoxidase deficiency is the most common inherited phagocyte disorder (1:2000) and causes an abnormal dihydrorhodamine oxidation test, which also is seen in chronic granulomatous disease. A patient with Candida meningitis and low dihydrorhodamine oxidation signal was diagnosed with chronic granulomatous disease but actually had compound heterozygous myeloperoxidase deficiency.
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Article Synopsis
- A female patient with chronic non-bacterial osteomyelitis (CNO) experienced severe systemic inflammation, malnutrition, and a complete deficiency of myeloperoxidase (MPO), a condition linked to immune system dysfunction.
- Diagnosed at 14 years old, conventional treatments like NSAIDs and corticosteroids did not relieve her symptoms, but she showed rapid improvement with TNFα blockade using adalimumab.
- The study examined her neutrophil functions during inflammation and remission, suggesting that her symptoms were likely driven by TNFα, while discussing the implications of her complete MPO deficiency on the condition's severity and development.
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