Background The genetic cause of primary immunodeficiency disease (PID) carries
prognostic information. Objective We conducted a whole-genome sequencing study …

Non-canonical NF-κB-pathway signaling is integral in immunoregulation. Heterozygous
mutations in NFKB2 have recently been established as a molecular cause of common …

Autosomal dominant (AD) NFKB1 deficiency is thought to be the most common genetic
etiology of common variable immunodeficiency (CVID). However, the causal link between …

Common variable immunodeficiency (CVID) is heterogeneous, clinically, immunologically
and genetically. The majority of genetic mechanisms leading to CVID remain elusive. We …

Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by
antibody deficiency, poor humoral response to antigens, and recurrent infections. To …

Common variable immunodeficiency (CVID) is the most frequent symptomatic primary
immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor …

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 …

Background An increasing number of NFKB1 variants are being identified in patients with
heterogeneous immunologic phenotypes. Objective To characterize the clinical and cellular …

Common variable immunodeficiency (CVID), characterized by recurrent infections, is the
most prevalent symptomatic antibody deficiency. In∼ 90% of CVID-affected individuals, no …

NF-κB signaling through its NFKB1-dependent canonical and NFKB2-dependent
noncanonical pathways plays distinctive roles in a diverse range of immune processes …