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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.

Pediatric blood & cancer - 1 Dec 2022

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

Abstract excerpt

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...

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Identifiers

PMID: 36129242
DOI: 10.1002/pbc.29941

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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