Can somatic GATA2 mutation mimic germ line GATA2 mutation?

Mallika Sekhar

Rachael Pocock

David Lowe

Christopher Mitchell

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^{Department of Haematology, Royal Free London National Health Service (NHS) Trust, London, United Kingdom;}

^{UCL Haematology, University College London, London, United Kingdom;}

^{Department of Haematology, North Middlesex Hospital NHS Trust, London, United Kingdom;}

^{Department of Immunology, Royal Free Hospital NHS Trust, London, United Kingdom;}

^{Department of Histopathology, University College London Hospital NHS Trust, London, United Kingdom;}

^{Human Dendritic Cell Laboratory, National Institute for Health Research Newcastle Biomedical Research Centre, Institute of Cellular Medicine, Newcastle University and Newcastle upon Tyne Hospitals, Newcastle upon Tyne, United Kingdom;}

^{Department of Respiratory Medicine, Royal Free London NHS Trust, London, United Kingdom; and}

^{UCL Respiratory Medicine, University College London, London, United Kingdom}

^{Corresponding author.}

^{M.C. and M.L. contributed equally to this study.}

Received 2017 Sep 19; Accepted 2018 Mar 18.

Key Points

Somatic GATA2 mutation is associated with immunodeficiency and pulmonary alveolar proteinosis in a patient with myeloproliferative neoplasm.

Key Points

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Acknowledgments

Polymerase chain reaction and Sanger sequencing of BM and blood DNA was performed by the NHS Northern Molecular Genetics Service and Source Bioscience (https://www.sourcebioscience.com/services/genomics/sanger-sequencing-service/). Lung tissue for analysis was kindly provided by Martin Young, Consultant Histopathologist and Cytopathologist, Royal Free London NHS Trust.

Acknowledgments

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