Article
Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variants.
Clinical immunology (Orlando, Fla.) - 1 Jan 2022
Hargreaves Chantal E, Dhalla Fatima, Patel Arzoo M, de Oteyza Andrés Caballero Garcia, Bateman Elizabeth, Miller Joanne, Anzilotti Consuelo, Ayers Lisa, Grimbacher Bodo, Patel Smita Y
Abstract excerpt
Genetic variants in PIK3CD, PIK3R1 and NFKB1 cause the primary immune deficiencies, activated PI3Kδ syndrome (APDS) 1, APDS2 and NFκB1 haploinsufficiency, respectively. We have identified a family with known or potentially pathogenic variants NFKB1, TNFRSF13B and PIK3R1. The study's aim was to describe their associated immune and cellular phenotypes and compare with individuals with monogenic disease. NFκB1...
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