title: A novel mutation in leukocyte adhesion deficiency type II/CDGIIc.
abstract: Leukocyte adhesion deficiencies (LAD) are autosomal recessive immunodeficiency syndromes characterized by severe and recurrent bacterial infections, impaired wound healing and leukocytosis. Block in different steps in the leukocyte adhesion cascade causes different types of leukocyte adhesion deficiencies, LAD type I, II and III. In LAD type II, the rolling phase of the leukocyte adhesion cascade is affected due to mutations in the specific fucose transporter GFTP (GDP fucose transporter), causing defect in the biosynthesis of selectin ligands on leukocytes. Thus this syndrome is also called congenital disorder of glycosylation IIc (CGDIIc). LAD II/CGDIIc is very rare and has been diagnosed in nine children to date. Fever, leukocytosis, typical dysmorphic features, growth, psychomotor retardation and the Bombay blood group, are characteristic findings in patients. Here, we describe two Turkish siblings with a novel mutation in GFTP. They both have the characteristic features of the syndrome. The older sibling died of severe bacterial pneumonia at the age of 3 years. The younger sibling, diagnosed at the age of 3 months, responded to high dose oral fucose supplementation. Secundum atrial septal defect which was not described in previously reported patients, but present in both of our patients, may primarily related to the defect in fucosylation.
authors.affiliation: Section of Pediatric Immunology, Hacettepe University, İhsan Doğramacı Children's Hospital , Ankara, Turkey, deniz.ayvaz@hacettepe.edu.tr.
authors.forename: Deniz
authors.initials: D
authors.lastname: Cagdas
authors.forename: Mustafa
authors.initials: M
authors.lastname: Yilmaz
authors.forename: Nurgün
authors.initials: N
authors.lastname: Kandemir
authors.forename: Ilhan
authors.initials: I
authors.lastname: Tezcan
authors.forename: Amos
authors.initials: A
authors.lastname: Etzioni
authors.forename: Özden
authors.initials: Ö
authors.lastname: Sanal
mesh_terms: D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000235:genetics*; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D009154:Mutation; D035781:Siblings
chemical_list: D009004:Monosaccharide Transport Proteins; C426650:SLC35C1 protein, human