Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes
M Kaustio, E Haapaniemi, H Göös, T Hautala… - Journal of Allergy and …, 2017 - Elsevier
Background The nuclear factor κ light-chain enhancer of activated B cells (NF-κB) signaling
pathway is a key regulator of immune responses. Accordingly, mutations in several NF-κB
pathway genes cause immunodeficiency. Objective We sought to identify the cause of
disease in 3 unrelated Finnish kindreds with variable symptoms of immunodeficiency and
autoinflammation. Methods We applied genetic linkage analysis and next-generation
sequencing and functional analyses of NFKB1 and its mutated alleles. Results In all affected …
pathway is a key regulator of immune responses. Accordingly, mutations in several NF-κB
pathway genes cause immunodeficiency. Objective We sought to identify the cause of
disease in 3 unrelated Finnish kindreds with variable symptoms of immunodeficiency and
autoinflammation. Methods We applied genetic linkage analysis and next-generation
sequencing and functional analyses of NFKB1 and its mutated alleles. Results In all affected …
