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

Abstract excerpt

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...

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