Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

ABSTRACT:

Background

An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes.

Objective

To characterize the clinical and cellular phenotype as well as the management of patients with heterozygous NFKB1 mutations.

Methods

In a worldwide collaborative effort, we evaluated 231 individuals harboring 105 distinct heterozygous NFKB1 variants. To provide evidence for pathogenicity, each variant was assessed in silico; in addition, 32 variants were assessed by functional in vitro testing of nuclear factor of kappa light polypeptide gene enhancer in B cells (NF-κB) signaling.

Results

We classified 56 of the 105 distinct NFKB1 variants in 157 individuals from 68 unrelated families as pathogenic. Incomplete clinical penetran

SUBMITTER: Lorenzini T 

PROVIDER: S-EPMC8246418 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature