The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1.

Abstract excerpt

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...

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