Journal
HUMAN MOLECULAR GENETICS
Volume 23, Issue 11, Pages 2880-2887Publisher
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddu001
Keywords
-
Funding
- Harvard Catalyst, The Harvard Clinical and Translational Science Center (National Institutes of Health) [UL1 RR 025758]
- Harvard University
- National Institutes of Health [P30-HD18655, 1R21AI099435, 2K12HD051959, P01 HL107146]
- NIH at the National Institutes of Health [1K23 HD073351]
- Pediatric Endocrine Society Clinical Scholar Award
- Translational Research Program at Boston Children's Hospital [6-FY09-507]
- Cogan Family Fund
- Arthritis National Research Foundation
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available