Ontology highlight
ABSTRACT:
SUBMITTER: Fliegauf M
PROVIDER: S-EPMC4564940 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
American journal of human genetics 20150813 3
Common variable immunodeficiency (CVID), characterized by recurrent infections, is the most prevalent symptomatic antibody deficiency. In ∼90% of CVID-affected individuals, no genetic cause of the disease has been identified. In a Dutch-Australian CVID-affected family, we identified a NFKB1 heterozygous splice-donor-site mutation (c.730+4A>G), causing in-frame skipping of exon 8. NFKB1 encodes the transcription-factor precursor p105, which is processed to p50 (canonical NF-κB pathway). The alter ...[more]