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Pediatr Blood Cancer. 2015 Sep;62(9):1677-9. doi: 10.1002/pbc.25537. Epub 2015 Apr 8.

A new mutation in the KINDLIN-3 gene ablates integrin-dependent leukocyte, platelet, and osteoclast function in a patient with leukocyte adhesion deficiency-III.

Author information

1
Department for Pediatrics, Medical University Innsbruck, Innsbruck, Austria.
2
Department of Experimental Biomedicine, University Hospital, University of Würzburg, Würzburg, Germany.
3
Department of Paediatrics and Adolescent Medicine, University Medical Center Freiburg, Freiburg, Germany.
4
Institute of Pathology, University of Münster, Münster, Germany.
5
Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.

Abstract

Disabling mutations in integrin-mediated cell signaling have been a major focus of interest over the last decade for patients affected with leukocyte adhesion deficiency-III (LAD-III). In this study, we identified a new C>T point mutation in exon 13 in the FERMT3 gene in an infant diagnosed with LAD-III and showed that KINDLIN-3 expression is required for platelet aggregation and leukocyte function, but also osteoclast-mediated bone resorption. After allogeneic bone marrow transplant, all overt symptoms disappeared. This newly identified mutation along with its novel role in dysregulation of bone homeostasis extends our understanding of KINDLIN-3 in humans.

KEYWORDS:

KINDLIN-3; LAD-III; leukocytosis; osteopetrosis; platelet malfunction

PMID:
25854317
DOI:
10.1002/pbc.25537
[Indexed for MEDLINE]

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