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Article

Genetic loss of SH2B3 in acute lymphoblastic leukemia.

Blood - 3 Oct 2013

Perez-Garcia Arianne, Ambesi-Impiombato Alberto, Hadler Michael, Rigo Isaura, LeDuc Charles A, Kelly Kara, Jalas Chaim, Paietta Elisabeth, Racevskis Janis, Rowe Jacob M, Tallman Martin S, Paganin Maddalena, Basso Giuseppe, Tong Wei, Chung Wendy K, Ferrando Adolfo A

Abstract excerpt

The SH2B adaptor protein 3 (SH2B3) gene encodes a negative regulator of cytokine signaling with a critical role in the homeostasis of hematopoietic stem cells and lymphoid progenitors. Here, we report the identification of germline homozygous SH2B3 mutations in 2 siblings affected with developmental delay and autoimmunity, one in whom B-precursor acute lymphoblastic leukemia (ALL) developed. Mechanistically, loss...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23908464
DOI: 10.1182/blood-2013-05-500850
PMCID: PMC3790510

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