We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect.
- Authors
Dauber, Andrew; Ercan, Altan; Lee, Jack; James, Philip; Jacobs, Pieter P.; Ashline, David J.; Wang, Sophie R.; Miller, Timothy; Hirschhorn, Joel N.; Nigrovic, Peter A.; Sackstein, Robert
- Abstract
Leukocyte adhesion deficiency type II is a hereditary disorder of neutrophil migration caused by mutations in the guanosine diphosphate-fucose transporter gene (SLC35C1). In these patients, inability to generate key fucosylated molecules including sialyl Lewis X leads to leukocytosis and recurrent infections, in addition to short stature and developmental delay. We report two brothers with short stature and developmental delay who are compound heterozygotes for novel mutations in SLC35C1 resulting in partial in vivo defects in fucosylation. Specifically, plasma glycoproteins including immunoglobulin G demonstrated marked changes in glycoform distribution. While neutrophil rolling on endothelial selectins was partially impeded, residual adhesion proved sufficient to avoid leukocytosis or recurrent infection. These findings demonstrate a surprising degree of immune redundancy in the face of substantial alterations in adhesion molecule expression, and show that short stature and developmental delay may be the sole presenting signs in this disorder.
- Publication
Human Molecular Genetics, 2014, Vol 23, Issue 11, p2880
- ISSN
0964-6906
- Publication type
Article
- DOI
10.1093/hmg/ddu001