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Article

Identification of novel STAT5B mutations and characterization of TCRβ signatures in CD4+ T-cell large granular lymphocyte leukemia.

Blood cancer journal - 24 Feb 2022

Bhattacharya Dipabarna, Teramo Antonella, Gasparini Vanessa Rebecca, Huuhtanen Jani, Kim Daehong, Theodoropoulos Jason, Schiavoni Gianluca, Barilà Gregorio, Vicenzetto Cristina, Calabretto Giulia, Facco Monica, Kawakami Toru, Nakazawa Hideyuki, Falini Brunangelo, Tiacci Enrico, Ishida Fumihiro, Semenzato Gianpietro, Kelkka Tiina, Zambello Renato, Mustjoki Satu

Abstract excerpt

CD4+ T-cell large granular lymphocyte leukemia (T-LGLL) is a rare subtype of T-LGLL with unknown etiology. In this study, we molecularly characterized a cohort of patients (n = 35) by studying their T-cell receptor (TCR) repertoire and the presence of somatic STAT5B mutations. In addition to the previously described gain-of-function mutations (N642H, Y665F, Q706L, S715F), we discovered six novel STAT5B mutations...

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CD4-Positive T-Lymphocytes
Gain of Function Mutation
Leukemia, Large Granular Lymphocytic
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

STAT5 Transcription Factor

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Identifiers

PMID: 35210405
DOI: 10.1038/s41408-022-00630-8
PMCID: PMC8873566

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