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- Title
The Clinical Spectrum of Leukocyte Adhesion Deficiency (LAD) III due to Defective CalDAG-GEF1.
- Authors
Sara Kilic; Amos Etzioni
- Abstract
Abstract Introduction Leukocyte adhesion deficiency (LAD) type III is a rare syndrome characterized by severe recurrent infections, leukocytosis, and increased bleeding tendency. All integrins are normally expressed yet a defect in their activation leads to the observed clinical manifestations. Materials and Methods Less than 20 patients have been reported world wide and the primary genetic defect was identified in some of them. Here we describe the clinical features of patients in whom a mutation in the calcium and diacylglycerol-regulated guanine nucleotide exchange factor 1 (CalDAG GEF1) was found and compare them to other cases of LAD III and to animal models harboring a mutation in the CalDAG GEF1 gene. Discussion The hallmarks of the syndrome are recurrent infections accompanied by severe bleeding episodes distinguished by osteopetrosis like bone abnormalities and neurodevelopmental defects.
- Subjects
INFECTION; HEMORRHAGE; DISEASES; LEUCOCYTOSIS
- Publication
Journal of Clinical Immunology, 2009, Vol 29, Issue 1, p117
- ISSN
0271-9142
- Publication type
Article
- DOI
10.1007/s10875-008-9226-z