NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.

Dominic LenzJens PahlFabian HauckSeham AlameerMeena BalasubramanianIvo BaricNikolas BoyJoseph A ChurchEllen CrushellAnke DickFelix DistelmaierJidnyasa GujarGiuseppe IndolfiEberhard LurzBianca PetersTobias SchwerdDaniele SerrantiStefan KölkerChristoph KleinGeorg F HoffmannHolger ProkischJohann GreilAdelheid CerwenkaThomas GieseChristian Staufner

Published in: Journal of clinical immunology (2021)

In summary, we demonstrate that pathogenic biallelic variants in NBAS are associated with dysfunctional NK cells as well as impaired adaptive humoral immunity.

Keyphrases

nk cells
copy number
immune response
intellectual disability
systematic review
high resolution
autism spectrum disorder
replacement therapy