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

Crazzolara, Roman; Maurer, Kathrin; Schulze, Harald; Zieger, Barbara; Zustin, Jozef; Schulz, Ansgar S

Crazzolara, Roman; Maurer, Kathrin; Schulze, Harald; Zieger, Barbara; Zustin, Jozef; Schulz, Ansgar S.

Affiliation

Crazzolara R; Department for Pediatrics, Medical University Innsbruck, Innsbruck, Austria.
Maurer K; Department for Pediatrics, Medical University Innsbruck, Innsbruck, Austria.
Schulze H; Department of Experimental Biomedicine, University Hospital, University of Würzburg, Würzburg, Germany.
Zieger B; Department of Paediatrics and Adolescent Medicine, University Medical Center Freiburg, Freiburg, Germany.
Zustin J; Institute of Pathology, University of Münster, Münster, Germany.
Schulz AS; Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.

Pediatr Blood Cancer ; 62(9): 1677-9, 2015 Sep.

Article in En | MEDLINE | ID: mdl-25854317

Subject(s)

Blood Platelets/physiology; Bone Resorption/genetics; Codon, Nonsense; Integrins/physiology; Leukocyte-Adhesion Deficiency Syndrome/genetics; Leukocytes/physiology; Membrane Proteins/genetics; Mutation, Missense; Neoplasm Proteins/genetics; Osteoclasts/physiology; Osteopetrosis/genetics; Point Mutation; Bone Marrow Transplantation; Bone Resorption/pathology; Cell Adhesion; Cell Nucleus/ultrastructure; Exons/genetics; Female; Hemorrhagic Disorders/genetics; Homeostasis; Humans; Infant, Newborn; Leukocyte-Adhesion Deficiency Syndrome/pathology; Leukocyte-Adhesion Deficiency Syndrome/therapy; Membrane Proteins/deficiency; Membrane Proteins/physiology; Neoplasm Proteins/deficiency; Neoplasm Proteins/physiology; Osteoclasts/ultrastructure; Osteopetrosis/pathology; Osteopetrosis/therapy; Platelet Aggregation/genetics; Remission Induction

Key words

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

Fulltext

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteoclasts / Osteopetrosis / Blood Platelets / Bone Resorption / Integrins / Point Mutation / Leukocyte-Adhesion Deficiency Syndrome / Codon, Nonsense / Mutation, Missense / Leukocytes Type of study: Prognostic_studies Limits: Female / Humans / Newborn Language: En Journal: Pediatr Blood Cancer Journal subject: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Year: 2015 Type: Article Affiliation country: Austria

Fulltext

XML

PubMed Links

Search on Google