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.

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Tytuł:: 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.
Autorzy:: Takase Y; Department of Pediatrics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.
Tanioka S; Department of Pediatrics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.
Ishimura M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Yoshiura KI; Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.
Mori Y; Department of Medicine and Biosystemic Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Sakaida E; Department of Endocrinology, Hematology and Gerontology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Funakoshi Y; Department of Pediatrics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.
Moriuchi H; Department of Pediatrics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.
Źródło:: Pediatric blood & cancer [Pediatr Blood Cancer] 2022 Dec; Vol. 69 (12), pp. e29941. Date of Electronic Publication: 2022 Sep 21.
Typ publikacji:: Journal Article
Język:: English
Imprint Name(s):: Original Publication: Hoboken, N.J. : John Wiley, c 2004-
MeSH Terms:: NF-kappa B*/genetics
NF-kappa B*/metabolism
Immunologic Deficiency Syndromes*
Child ; Female ; Male ; Humans ; Young Adult ; Adult ; CARD Signaling Adaptor Proteins/genetics ; CARD Signaling Adaptor Proteins/metabolism ; Guanylate Cyclase/genetics ; Guanylate Cyclase/metabolism ; Mutation, Missense ; B-Lymphocytes/metabolism ; Mutation ; T-Lymphocytes/metabolism
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Ruland J, Hartjes L. CARD-BCL-10-MALT1 signalling in protective and pathological immunity. Nat Rev Immunol. 2019;19:118-134.
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Neishabury M, Azarkeivan A, Mehri M, et al. The first case of BENTA disease (B cell expansion with NF-κB and T cell anergy) from Iran. J Clin Immunol. 2021;40:406-411.
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Ludgate JL, Weeks RJ, Morison IM. Aberrant immunoglobulin kappa locus rearrangement in a patient with CARD11-related B cell lymphocytosis. J Clin Immunol. 2021;12:1943-1945.
Arjunaraja S, Nosé BD, Sukumar G, et al. Intrinsic plasma cell differentiation defects in B cell expansion with NF-κB and T cell anergy patient B cells. Front Immunol. 2017;41:1943.
Lenz G, Davis RE, Ngo VN, et al. Oncogenic CARD11 mutations in human diffuse large B cell lymphoma. Science. 2008;8:1676-1679.
Stinson JR, Dorjbal B, McDaniel DP, et al. Gain-of-function mutations in CARD11 promote enhanced aggregation and idiosyncratic signalosome assembly. Cell Immunol. 2020;319:1676.
Singh M, Jackson KJL, Wang JJ, et al. Lymphoma driver mutations in the pathogenic evolution of an iconic human autoantibody. Cell. 2020;353:878-894.
Wray-Dutra MN, Chawla R, Thomas KR, et al. Activated CARD11 accelerates germinal center kinetics, promoting mTORC1 and terminal differentiation. J Exp Med. 2018;180:878-894.e19.
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Contributed Indexing:: Keywords: B-cell expansion with NF-κB and T-cell anergy (BENTA); CARD11; autoimmune-like manifestations; familial case; tacrolimus
Substance Nomenclature:: 0 (NF-kappa B)
0 (CARD Signaling Adaptor Proteins)
EC 4.6.1.2 (Guanylate Cyclase)
EC 4.6.1.2 (CARD11 protein, human)
Entry Date(s):: Date Created: 20220921 Date Completed: 20221031 Latest Revision: 20221206
Update Code:: 20240105
DOI:: 10.1002/pbc.29941
PMID:: 36129242
: Czasopismo naukowe

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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.
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