LAMP2 flow cytometry in peripheral white blood cells is an established method that facilitates identification of heterozygous Danon disease female patients and mosaic mutation carriers
2015
Abstrakt
Having previously published on the usage of white blood cells (WBC) in diagnostics of X-chromosome linked Danon disease (DD, LAMP2 deficiency), we would like to respond to claims made by Hashida and colleagues in their report ""Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes"". Our aim is to rectify the statements on novelty of the LAMP2 flow cytometric (FC) assay and its utility in early diagnosis and/or screening for DD patients.
We would further like to comment on the genetic setup in the presented DD family and clarify the interpretation of WBC LAMP2 expression patterns in female patients as outlined by the authors.