The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families
Year: 2024
Type: article
Study design: Case Report
Abstract: XK disease is a very rare, multi-system disease, which can present with a wide spectrum of symptoms. This disorder can also be identified pre-symptomatically with the incidental detection of serological abnormalities when typing erythrocytes in peripheral blood, or on other routine laboratory testing. Increasing awareness of this disorder and improved access to genetic testing are resulting in increasing identification of affected patients and families. Here we provide updates to some previously-reported families and patients and provide additional clinical details. We also report four new cases with a variety of presentations, one of whom had a novel mutation.
Source: Frontiers in Neuroscience
Authors: Ruth H. Walker, Mariana Barreto, James R. Bateman, M. Leonor Bustamante, Graham Chiu, Scott Feitell, Beat M. Frey, Patricio Guerra, Sofia Guerrero, Hans H. Jung, Fernando Maldonado, Eduardo Meyer, Marcelo Miranda, Emelie McFarland, Patricia Oates, Gorka Ochoa, Karin Olsson, Martin Paucar, Jonatan Alvarez Proschle, Esther M. Sammler, Monica Troncoso, Rachel Wu-Wallace, Leo Young, Sunitha Vege, Connie M. Westhoff, Adrian Danek
Institutions: James J. Peters VA Medical Center, Icahn School of Medicine at Mount Sinai, W. G. (Bill) Hefner VA Medical Center, Wake Forest University Health Sciences, Wake Forest University, University of Chile, Unity Health System, Swiss Red Cross, San Sebastián University, University Hospital Zurich, Ministry of Health, Clínica MEDS (Chile), New York Blood Center, Karolinska University Hospital, Karolinska Institutet, University of Dundee, Hospital San Borja Arriarán, University of California, Los Angeles, LMU Klinikum, Ludwig-Maximilians-Universität München
Language: English
Topic: Blood groups and transfusion
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,295
OpenAlex ID: W4402380369