Leukocyte Adhesion Deficiency Syndrome (LAD syndrome) is a rare genetic disorder characterized by a deficiency in the adhesion or attachment of white blood cells, known as leukocytes, to the walls of blood vessels. This condition affects the immune system's ability to fight off infections and leads to increased susceptibility to recurrent and severe bacterial infections.
In individuals with Leukocyte Adhesion Deficiency Syndrome, white blood cells are unable to properly adhere to the blood vessel walls and migrate to the sites of infection, impairing their ability to effectively combat bacteria. This deficiency affects various types of leukocytes, including neutrophils, monocytes, and lymphocytes, which are crucial in maintaining a healthy immune response.
Symptoms of Leukocyte Adhesion Deficiency Syndrome usually manifest in early infancy or childhood and may include delayed separation of the umbilical cord, persistent skin and mucosal infections, poor wound healing, and gum inflammation. Affected individuals are highly prone to severe bacterial infections affecting various body systems, including the respiratory tract, skin, and gastrointestinal tract.
Leukocyte Adhesion Deficiency Syndrome is typically caused by mutations in genes encoding proteins involved in leukocyte adhesion, such as integrins or selectins. The disorder is inherited in an autosomal recessive manner, meaning that affected individuals inherit two copies of the mutated gene, one from each parent.
Treatment for Leukocyte Adhesion Deficiency Syndrome focuses on managing infections and preventing complications. This may involve aggressive antibiotic therapy, frequent monitoring, and administration of white blood cell transfusions to boost the immune response. In some cases, bone marrow transplantation may be considered as a potential cure.
