Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature

Shawn Tahata, Kimiyo Raymond, Marie Quade, Sara Barnes, Suzanne Boyer, Stacy League, Attila Kumanovics, Roshini Abraham, Eapen Jacob, Prem Menon, Eva Morava

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
JournalAmerican Journal of Medical Genetics, Part A
DOIs
StateAccepted/In press - 2022

Keywords

  • CD15
  • congenital disorder of glycosylation
  • fucose
  • leukocyte adhesion deficiency type II
  • SLC35C1-CDG

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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