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

ABSTRACT:

Purpose

Biallelic pathogenic NBAS variants manifest as a multisystem disorder with heterogeneous clinical phenotypes such as recurrent acute liver failure, growth retardation, and susceptibility to infections. This study explores how NBAS-associated disease affects cells of the innate and adaptive immune system.

Methods

Clinical and laboratory parameters were combined with functional multi-parametric immunophenotyping methods in fifteen NBAS-deficient patients to discover possible alterations in their immune system.

Results

Our study revealed reduced absolute numbers of mature CD56^dim natural killer (NK) cells. Notably, the residual NK cell population in NBAS-deficient patients exerted a lower potential for activation and degranulation in response to K562 t

SUBMITTER: Lenz D 

PROVIDER: S-EPMC8604887 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature