Article
Identification of Cytochrome b-245, beta-chain gene mutations, and clinical presentations in Iranian patients with X-linked chronic granulomatous disease.
Journal of clinical laboratory analysis - 1 Feb 2021
Heydari Atefeh, Abolnezhadian Farhad, Sadeghi-Shabestari Mahnaz, Saberi Alihossein, Shamsizadeh Ahmad, Ghadiri Ata A, Ghandil Pegah
Abstract excerpt
BACKGROUND: X-linked chronic granulomatous disease (X-CGD) is an immunodeficiency disorder caused by defects in the gp91phox subunit that leads to life-threatening infections. We aimed to identify CYBB gene mutations and study clinical phenotypes in Iranian patients with probable X-CGD. METHODS: We studied four unrelated Iranian patients with probable X-CGD and their families recruited in several years. We...
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