title: The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1.
abstract: BACKGROUND
  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.
  
  
  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.
  
  
  CONCLUSIONS
  The hallmarks of the syndrome are recurrent infections accompanied by severe bleeding episodes distinguished by osteopetrosis like bone abnormalities and neurodevelopmental defects.
authors: Department of Pediatric Immunology, Uludag University School of Medicine, Bursa, Turkey.
authors: Sara S
authors: SS
authors: Kilic
authors: Amos
authors: A
authors: Etzioni
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007223:Infant; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation / Q000235:genetics; D011859:Radiography
chemical_list: D020662:Guanine Nucleotide Exchange Factors; C415483:RASGRP2 protein, human