Research Topic: Primary Immunodeficiency

Consecutive non-Aspergillus Fungal Invasive Infections in Chronic Granulomatous Disease: Data from the French National Reference Center for Primary ImmunoDeficiencies and literature review

This study examines rare fungal infections in patients with Chronic Granulomatous Disease, a genetic disorder affecting the immune system. Researchers found that these patients develop various unusual fungal infections despite taking preventive antifungal medications. The infections are difficult to diagnose, often requiring surgical procedures, but can sometimes be cured through stem cell transplantation combined with intensive antifungal treatment.

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Abundant Yet Aberrant T Helper Cell Responses to Candida albicans Underlie Mucosal Candidiasis in Humans and Mice

Researchers studied how the immune system fights Candida albicans fungal infections. They found that a specific type of immune cell called Th17 cells is absolutely essential for controlling these infections, while other immune cells called Th2 cells actually make infections worse by blocking the protective Th17 cells. Patients with certain genetic mutations that affect how their immune system works have too many Th2 cells and not enough Th17 cells, making them vulnerable to chronic fungal infections. The study suggests that blocking a molecule called IL-4 could help restore the balance and improve patient outcomes.

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Consecutive non-Aspergillus Fungal Invasive Infections in Chronic Granulomatous Disease: Data from the French National Reference Center for Primary ImmunoDeficiencies and literature review

This study examines rare but serious fungal infections in patients with chronic granulomatous disease, a genetic immune disorder. Researchers analyzed 122 cases of non-Aspergillus fungal infections from French hospitals and published literature, finding that these infections often occur despite preventive antifungal medications and are challenging to diagnose. The infections were found in the lungs most commonly but could spread to bones, brain, and other organs, with treatments including antifungal drugs, surgery, and in some cases bone marrow transplants.

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