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Successful haematopoietic stem cell transplantation in a case of pulmonary alveolar proteinosis due...

Successful haematopoietic stem cell transplantation in a case of pulmonary alveolar proteinosis due...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_02979634v1

Successful haematopoietic stem cell transplantation in a case of pulmonary alveolar proteinosis due to GM-CSF receptor deficiency

About this item

Full title

Successful haematopoietic stem cell transplantation in a case of pulmonary alveolar proteinosis due to GM-CSF receptor deficiency

Publisher

England: BMJ Publishing Group LTD

Journal title

Thorax, 2018-06, Vol.73 (6), p.590-592

Language

English

Formats

Publication information

Publisher

England: BMJ Publishing Group LTD

More information

Scope and Contents

Contents

CS and Cécile Bonnet (CeB): These abnormalities led to a diagnosis of pulmonary alveolar proteinosis (PAP) at the age of 2.6 years, which was confirmed by genetic testing; complex chromosome abnormalities were detected, with (1) deletion of CSF2RA and CRLF2 on the X chromosome inherited from the mother, and (2) a de novo rearrangement of the patern...

Alternative Titles

Full title

Successful haematopoietic stem cell transplantation in a case of pulmonary alveolar proteinosis due to GM-CSF receptor deficiency

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_hal_primary_oai_HAL_hal_02979634v1

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_02979634v1

Other Identifiers

ISSN

0040-6376

E-ISSN

1468-3296

DOI

10.1136/thoraxjnl-2017-211076

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