About Leukocyte Adhesion Deficiency

What is Leukocyte Adhesion Deficiency?

Leukocyte Adhesion Deficiency (LAD) is a rare, inherited disorder that affects the body's ability to fight infection. It is caused by a genetic mutation that affects the production of certain proteins that are necessary for white blood cells (leukocytes) to move through the walls of blood vessels and into the tissues. People with LAD have an increased risk of recurrent bacterial infections, especially in the skin, lungs, and gastrointestinal tract.

What are the symptoms of Leukocyte Adhesion Deficiency?

The symptoms of Leukocyte Adhesion Deficiency (LAD) vary depending on the type of LAD, but generally include recurrent bacterial infections, especially in the skin, lungs, and gastrointestinal tract. Other symptoms may include delayed growth, poor wound healing, and gum disease.

What are the causes of Leukocyte Adhesion Deficiency?

Leukocyte Adhesion Deficiency (LAD) is a rare, inherited disorder caused by mutations in the genes that encode proteins involved in the adhesion of white blood cells (leukocytes) to the walls of blood vessels. These mutations lead to a deficiency in the ability of leukocytes to adhere to the walls of blood vessels, resulting in recurrent bacterial infections.

What are the treatments for Leukocyte Adhesion Deficiency?

The primary treatment for Leukocyte Adhesion Deficiency (LAD) is hematopoietic stem cell transplantation (HSCT). This involves replacing the patient's defective stem cells with healthy donor stem cells. HSCT is the only known cure for LAD. Other treatments for LAD include antibiotics to prevent and treat infections, immunoglobulin replacement therapy to boost the immune system, and enzyme replacement therapy to replace the missing adhesion molecules.

What are the risk factors for Leukocyte Adhesion Deficiency?

1. Genetic mutation: Leukocyte Adhesion Deficiency is caused by a genetic mutation in the CD18 gene, which is responsible for producing the protein beta-2 integrin.

2. Family history: Leukocyte Adhesion Deficiency is an inherited disorder, so having a family history of the disorder increases the risk of developing it.

3. Ethnicity: Leukocyte Adhesion Deficiency is more common in certain ethnic groups, such as Ashkenazi Jews and people of Mediterranean descent.

Is there a cure/medications for Leukocyte Adhesion Deficiency?

Yes, there is a cure for Leukocyte Adhesion Deficiency (LAD). The only available treatment is a bone marrow transplant, which replaces the defective bone marrow with healthy bone marrow from a donor. This procedure can be successful in restoring normal immune system function. In some cases, medications such as antibiotics, antifungals, and antivirals may be prescribed to help prevent or treat infections.