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