TY - JOUR
T1 - Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy
T2 - Insights from two new families and review of the literature
AU - Tahata, Shawn
AU - Raymond, Kimiyo
AU - Quade, Marie
AU - Barnes, Sara
AU - Boyer, Suzanne
AU - League, Stacy
AU - Kumanovics, Attila
AU - Abraham, Roshini
AU - Jacob, Eapen
AU - Menon, Prem
AU - Morava, Eva
N1 - Funding Information:
The authors would like to acknowledge their patients and patients' families for participating in this research and expanding their understanding of SLC35C1-CDG.
Publisher Copyright:
© 2022 Wiley Periodicals LLC.
PY - 2022/7
Y1 - 2022/7
N2 - Leukocyte adhesion deficiency type II (LAD II, also known as SLC35C1-congenital disorder of glycosylation) is an autosomal recessive disorder characterized by growth and cognitive impairment, peripheral neutrophilia, recurrent infections, and the Bombay blood phenotype. A subset of patients with a milder presentation has been described with short stature and developmental delay but minimal immune and hematologic features. Some patients with LAD II benefit from oral fucose therapy, though this has not been previously studied in patients with milder disease. In this study, we describe two new patients from separate families with the milder variant of LAD II and review the published literature on this rare disorder. We demonstrate improvement in speech and cognition, CD15 expression, and core fucosylation of serum glycoproteins after 27 months of oral fucose supplementation in one patient. These patients further support the stratification of this disorder into distinct subtypes, a classical severe and an attenuated variant, and provide preliminary evidence of benefit of fucose therapy in the latter group.
AB - Leukocyte adhesion deficiency type II (LAD II, also known as SLC35C1-congenital disorder of glycosylation) is an autosomal recessive disorder characterized by growth and cognitive impairment, peripheral neutrophilia, recurrent infections, and the Bombay blood phenotype. A subset of patients with a milder presentation has been described with short stature and developmental delay but minimal immune and hematologic features. Some patients with LAD II benefit from oral fucose therapy, though this has not been previously studied in patients with milder disease. In this study, we describe two new patients from separate families with the milder variant of LAD II and review the published literature on this rare disorder. We demonstrate improvement in speech and cognition, CD15 expression, and core fucosylation of serum glycoproteins after 27 months of oral fucose supplementation in one patient. These patients further support the stratification of this disorder into distinct subtypes, a classical severe and an attenuated variant, and provide preliminary evidence of benefit of fucose therapy in the latter group.
KW - CD15
KW - SLC35C1-CDG
KW - congenital disorder of glycosylation
KW - fucose
KW - leukocyte adhesion deficiency type II
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U2 - 10.1002/ajmg.a.62737
DO - 10.1002/ajmg.a.62737
M3 - Article
C2 - 35338746
AN - SCOPUS:85127249001
VL - 188
SP - 2005
EP - 2018
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 7
ER -