Ontology highlight
ABSTRACT:
SUBMITTER: Smulski CR
PROVIDER: S-EPMC6186824 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Frontiers in immunology 20181008
The BAFF-receptor (BAFFR) is encoded by the TNFRSF13C gene and is one of the main pro-survival receptors in B cells. Its function is impressively documented in humans by a homozygous deletion within exon 2, which leads to an almost complete block of B cell development at the stage of immature/transitional B cells. The resulting immunodeficiency is characterized by B-lymphopenia, agammaglobulinemia, and impaired humoral immune responses. However, different from mutations affecting pathway compone ...[more]