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

Yusuke Takase, Shinji Tanioka, Masataka Ishimura, Koh ichiro Yoshiura, Yasuo Mori, Emiko Sakaida, Yasutomo Funakoshi, Hiroyuki Moriuchi

研究成果: ジャーナルへの寄稿学術誌査読

抄録

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.

本文言語英語
ジャーナルPediatric Blood and Cancer
DOI
出版ステータス印刷中 - 2022
外部発表はい

!!!All Science Journal Classification (ASJC) codes

  • 小児科学、周産期医学および子どもの健康
  • 血液学
  • 腫瘍学

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