Article
Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1.
Frontiers in immunology - 1 Jan 2019
Schröder Claudia, Sogkas Georgios, Fliegauf Manfred, Dörk Thilo, Liu Di, Hanitsch Leif G, Steiner Sophie, Scheibenbogen Carmen, Jacobs Roland, Grimbacher Bodo, Schmidt Reinhold E, Atschekzei Faranaz
Abstract excerpt
Adult-onset primary immunodeficiency is characterized by recurrent infections, hypogammaglobulinemia, and poor antibody response to vaccines. In this study, we have analyzed targeted gene panel sequencing results of 270 patients diagnosed with antibody deficiency and identified five disease-associated variants in NFKB1 in five unrelated families. We detected two single base pair deletions and two single base pair...
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