A patient who presents with unique facial features, recurrent infections, persistent leukocytosis, defective neutrophil chemotaxis, and severe growth and mental retardation would likely be manifesting these symptoms due to a deficiency in which of the following transport proteins?

Question

Quizplus · Accepted Answer

The symptoms described are characteristic of Leukocyte Adhesion Deficiency Type II (LAD II), which is caused by a defect in the GDP-fucose transporter (FUCT1, SLC35C1). This defect leads to impaired fucosylation of selectins, affecting neutrophil chemotaxis and causing recurrent infections and persistent leukocytosis.

A Patient Who Presents with Unique Facial Features, Recurrent Infections