Ontology highlight
ABSTRACT:
SUBMITTER: Arjunaraja S
PROVIDER: S-EPMC5539167 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Arjunaraja Swadhinya S Nosé Brent D BD Sukumar Gauthaman G Lott Nathaniel M NM Dalgard Clifton L CL Snow Andrew L AL
Frontiers in immunology 20170802
B cell Expansion with NF-κB and T cell Anergy (BENTA) disease is a novel B cell lymphoproliferative disorder caused by germline, gain-of-function mutations in the lymphocyte scaffolding protein CARD11, which drives constitutive NF-κB signaling. Despite dramatic polyclonal expansion of naive and immature B cells, BENTA patients also present with signs of primary immunodeficiency, including markedly reduced percentages of class-switched/memory B cells and poor humoral responses to certain vaccines ...[more]