Article
Novel mutations in hyper-IgM syndrome type 2 and X-linked agammaglobulinemia detected in three patients with primary immunodeficiency disease.
Molecular genetics & genomic medicine - 1 Jan 2021
Chen Xihui, Liu Fangfang, Yuan Lijuan, Zhang Meng, Chen Kun, Wu Yuanming
Abstract excerpt
BACKGROUND: Ambiguous or atypical phenotypes can make a definite diagnosis of primary immunodeficiency diseases based on biochemical indices alone challenging. Further, mortality in early life because of infections in patients with these conditions supports the use of genetic tests to facilitate rapid and accurate diagnoses. METHODS: Genetic and clinical analyses of three unrelated Chinese children with clinical...
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