Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variants

Chantal E. Hargreaves,Fatima Dhalla,Arzoo M. Patel,Andrés Caballero Garcia de Oteyza,Elizabeth Bateman,Joanne Miller,Consuelo Anzilotti,Lisa Ayers,Bodo Grimbacher,Smita Y. Patel

Clinical Immunology（2022）

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摘要

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.

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关键词

Activated phosphoinositol 3-kinase delta syndrome,Combined immune deficiency,NF-kappaB1 haploinsufficiency,NFKB1,PIK3CD,PIK3R1

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