Article
Novel mutations in unrelated Vietnamese patients with chronic granulomatous disease.
Clinica chimica acta; international journal of clinical chemistry - 1 Aug 2022
Binh Nguyen Thanh, Lien Nguyen Thi Kim, Anh Nguyen Thi Van, Mai Nguyen Thi Phuong, Ha Nguyen Thi Viet, Ha Dang Thuy, Tung Nguyen Van, Hoang Nguyen Huy
Abstract excerpt
BACKGROUND: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder (PID) due to genetic defects in the NADPH oxidase of phagocytes. Affected patients become susceptible to infections such as pneumonia, diarrhea, and skin ulcer types. The patients require life-long treatment with prophylactic antibiotics, antifungals, or hematopoietic stem cell transplantation (HSCT) therapy. Early,...
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