Review
Open access
Genotype–phenotype analysis in 333 individuals with heterozygous variants in NFKB1
Sophia Marie Armbruster
Andrés Caballero-Oteyza
Oliver Bartsch
Tiziana Lorenzini
Hassan Abolhassani
S. Chan
L. González-Granado
Víctor García-Bustos
M. D. Cabañero-Navalón
Nazanin Fathi
Nima Rezaei
M. Fusaro
Roger Colobran
Kaan Boztug
Michele Proietti
B. Grimbacher
Medicine
Abstract
Our literature review included all currently published patients with NFKB1 variants. Variants were divided into subcohorts and classified into distinct variant classes. Correlative analyses were performed to search for genotype–phenotype correlations.