About Leukocyte adhesion deficiency type I

What is Leukocyte adhesion deficiency type I?

Leukocyte adhesion deficiency type I (LAD-I) is a rare, inherited disorder that affects the body's ability to fight infection. It is caused by a mutation in the gene that codes for the CD18 protein, which is a part of the leukocyte adhesion molecule family. People with LAD-I have an inability to form the normal bonds between white blood cells and the walls of blood vessels, which prevents them from effectively fighting off infections. Symptoms of LAD-I include recurrent bacterial infections, delayed healing of wounds, and poor growth. Treatment typically involves antibiotics and other medications to help reduce the risk of infection.

What are the symptoms of Leukocyte adhesion deficiency type I?

The symptoms of Leukocyte adhesion deficiency type I (LAD-I) include recurrent bacterial infections, especially in the skin, lungs, and gastrointestinal tract. Other symptoms may include delayed umbilical cord separation, delayed separation of the foreskin, delayed tooth eruption, and delayed motor development. Patients may also experience recurrent episodes of fever, diarrhea, and vomiting.

What are the causes of Leukocyte adhesion deficiency type I?

Leukocyte adhesion deficiency type I (LAD-I) is a rare, inherited disorder caused by mutations in the ITGB2 gene. This gene provides instructions for making a protein called beta-2 integrin, which is found on the surface of white blood cells (leukocytes). Beta-2 integrin helps leukocytes stick to other cells and to the walls of blood vessels, a process known as adhesion. Mutations in the ITGB2 gene reduce or eliminate the production of functional beta-2 integrin, leading to the signs and symptoms of LAD-I.

What are the treatments for Leukocyte adhesion deficiency type I?

1. Hematopoietic stem cell transplantation: This is the only curative treatment for Leukocyte adhesion deficiency type I. It involves replacing the defective stem cells with healthy ones from a donor.

2. Antibiotic therapy: This involves the use of antibiotics to prevent and treat infections.

3. Granulocyte transfusions: This involves the transfusion of healthy granulocytes from a donor to help fight infections.

4. Immunoglobulin therapy: This involves the administration of immunoglobulins to help boost the immune system.

5. Splenectomy: This involves the removal of the spleen to reduce the risk of infection.

What are the risk factors for Leukocyte adhesion deficiency type I?

1. Genetic mutation: Leukocyte adhesion deficiency type I is caused by a genetic mutation in the ITGB2 gene, which is responsible for producing the CD18 protein.

2. Family history: Leukocyte adhesion deficiency type I is an inherited disorder, so having a family history of the condition increases the risk of developing it.

3. Ethnicity: Leukocyte adhesion deficiency type I is more common in people of Ashkenazi Jewish descent.

Is there a cure/medications for Leukocyte adhesion deficiency type I?

Yes, there is a cure for Leukocyte adhesion deficiency type I. 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 addition, medications such as antibiotics, antifungals, and antivirals may be prescribed to help prevent and treat infections.