The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families
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.
Authors
- Ruth Helen Walker (ORCID: https://orcid.org/0000-0002-8366-072X)
- Eduardo Meyer
- Sunitha Vege (ORCID: https://orcid.org/0000-0003-0243-266X)
- M. Leonor Bustamante (ORCID: https://orcid.org/0000-0001-9071-2463)
- Beat M. Frey (ORCID: https://orcid.org/0000-0002-2514-8621)
- Mariana Barreto
- Connie M. Westhoff (ORCID: https://orcid.org/0000-0002-1929-4593)
- Martin Paucar (ORCID: https://orcid.org/0000-0003-3735-1480)
- James R. Bateman
- Esther Sammler (ORCID: https://orcid.org/0000-0003-3218-7116)
- Scott Feitell (ORCID: https://orcid.org/0000-0002-7809-6546)
- Adrian Danek (ORCID: https://orcid.org/0000-0001-8857-5383)
- M. Troncoso (ORCID: https://orcid.org/0000-0002-2539-4929)
- Fernando Maldonado (ORCID: https://orcid.org/0000-0002-4693-2052)
- Hans H. Jung
- Marcelo Miranda (ORCID: https://orcid.org/0009-0001-0974-4757)
- Jonatan Alvarez Proschle
- Rachel Wu-Wallace
- Graham Chiu
- Patricia Oates
- Karin Olsson
- S R Angélica Guerrero
- Patricio Guerra
- Gorka Ochoa‐Garay (ORCID: https://orcid.org/0000-0003-3817-9416)
- Leo Young
- Emelie McFarland
Institutions
- Karolinska University Hospital (SE)
- New York Blood Center (US)
- University of Dundee (GB)
- Swiss Red Cross (CH)
- Karolinska Institutet (SE)
- LMU Klinikum (DE)
- San Sebastián University (CL)
- Fraunhofer Chile Research Foundation (CL)
- Instituto de Salud Pública de Chile (CL)
- Unity Health System (US)
- University Hospital of Zurich (CH)
- Palmerston North Hospital (NZ)
- W. G. (Bill) Hefner VA Medical Center (US)
- James J. Peters VA Medical Center (US)
- Film Independent (US)
- Center for Neurosciences (US)
- Clínica MEDS (Chile) (CL)
- Universidad de Los Lagos (CL)
- Hospital San Borja Arriarán (CL)
- Wake Forest University (US)
- University of Chile (CL)
- Ludwig-Maximilians-Universität München (DE)
- Icahn School of Medicine at Mount Sinai (US)
Publication Details
- Journal
- Frontiers in Neuroscience
- Published
- 2024-09-09
- DOI
- https://doi.org/10.3389/fnins.2024.1408105
- Citations
- 2
- Primary Topic
- Erythrocyte Function and Pathophysiology
- Type
- article
- Field-Weighted Citation Impact
- 0.65