Article
Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2019
Abolhassani Hassan, Aghamohammadi Asghar, Fang Mingyan, Rezaei Nima, Jiang Chongyi, Liu Xiao, Pan-Hammarström Qiang, Hammarström Lennart
Abstract excerpt
PURPOSE: The etiology of 80% of patients with primary antibody deficiency (PAD), the second most common type of human immune system disorder after human immunodeficiency virus infection, is yet unknown. METHODS: Clinical/immunological phenotyping and exome sequencing of a cohort of 126 PAD patients (55.5% male, 95.2% childhood onset) born to predominantly consanguineous parents (82.5%) with unknown genetic...
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