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Article

Somatic mutations and clonal hematopoiesis in congenital neutropenia.

Blood - 25 Jan 2018

Xia Jun, Miller Christopher A, Baty Jack, Ramesh Amrita, Jotte Matthew R M, Fulton Robert S, Vogel Tiphanie P, Cooper Megan A, Walkovich Kelly J, Makaryan Vahagn, Bolyard Audrey A, Dinauer Mary C, Wilson David B, Vlachos Adrianna, Myers Kasiani C, Rothbaum Robert J, Bertuch Alison A, Dale David C, Shimamura Akiko, Boxer Laurence A, Link Daniel C

Abstract excerpt

Severe congenital neutropenia (SCN) and Shwachman-Diamond syndrome (SDS) are congenital neutropenia syndromes with a high rate of leukemic transformation. Hematopoietic stressors may contribute to leukemic transformation by increasing the mutation rate in hematopoietic stem/progenitor cells (HSPCs) and/or by promoting clonal hematopoiesis. We sequenced the exome of individual hematopoietic colonies derived from...

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Identifiers

PMID: 29092827
DOI: 10.1182/blood-2017-08-801985
PMCID: PMC5790127

Genes

SDS

Provenance

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