Leukocyte adhesion deficiency type 2

Leukocyte Adhesion Deficiency Type 2 (LAD-2), also known as SLC35C1-CDG, is a rare genetic disorder characterized by the immune system's inability to properly adhere leukocytes, or white blood cells, to blood vessel walls. This condition leads to recurrent bacterial infections, severe periodontal disease, and delayed wound healing. LAD-2 is caused by mutations in the SLC35C1 gene, which is responsible for the fucose transporter function necessary for the proper expression of selectin ligands on the leukocyte surface. These selectin ligands are crucial for leukocyte adhesion to the endothelium, a process that allows white blood cells to exit the bloodstream and reach sites of infection or injury.

Symptoms and Diagnosis

Patients with LAD-2 typically present with recurrent bacterial infections from an early age, including omphalitis in newborns, severe periodontitis, and persistent mucocutaneous ulcers. Unlike LAD-1, LAD-2 patients also exhibit developmental delay, short stature, and a distinctive facial appearance. Diagnosis is based on clinical presentation, the identification of the characteristic SLC35C1 gene mutation through genetic testing, and the abnormal fucose metabolism in leukocytes.

Treatment

There is no cure for LAD-2, and treatment is primarily supportive and aimed at managing infections through the use of antibiotics and maintaining good oral hygiene to prevent periodontitis. Bone marrow transplantation has been explored as a potential curative treatment due to its ability to replace the defective leukocytes with healthy ones from a donor.

Epidemiology

LAD-2 is extremely rare, with only a handful of cases reported in the medical literature worldwide. It affects males and females equally and has been identified in individuals of various ethnic backgrounds.

Research Directions

Research on LAD-2 is focused on better understanding the molecular mechanisms underlying the disease and developing targeted therapies. Gene therapy is considered a potential future treatment option, aiming to correct the genetic defect in hematopoietic stem cells.

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