A familial case of B-cell expansion with NF-κB and T-cell anergy caused by a G123D heterozygous missense mutation in the CARD11 gene
Published as a meeting abstract “A familial case of B-cell expansion with NF-κB and T-cell anergy (BENTA).” The 63rd Annual Meeting of the Japanese Society of Pediatric Hematology/Oncology. November 25–27, 2021. The abstract is available only on the printed proceedings.
Abstract
B-cell expansion with NF-κB (nuclear factor-kappa B) and T-cell anergy (BENTA) is a rare congenital lymphoproliferative disorder caused by germline gain-of-function mutations in the CARD11 gene. We herein report a familial case of BENTA due to a G123D heterozygous missense mutation in CARD11 inherited by a male from his mother. The mother's clinical course was characterized by polyarthritis and encephalitis in young adulthood, suggesting that autoimmune-like manifestations can occur in BENTA. The B-cell lymphocytosis and splenomegaly seen in her child have been managed with prednisolone and tacrolimus. Further investigations are needed to evaluate the efficacy of calcineurin inhibitors for BENTA.
CONFLICT OF INTEREST
The authors declare that there is no conflict of interest.
