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Leukocyte Adhesion Deficiency

By James Fernandez, MD, PhD, RJ Fasenmyer Center for Clinical Immunology

In leukocyte adhesion deficiency, white blood cells (leukocytes) do not function normally, causing frequent soft-tissue infections.

  • Symptoms of leukocyte adhesion deficiency usually begin during infancy and include frequent infections in soft tissues, such as the gums, skin, and muscles.

  • Doctors do special blood tests to diagnose the disorder.

  • Treatment involves antibiotics to prevent infections and transfusions of white blood cells, but stem cell transplantation is the only effective treatment.

Leukocyte adhesion deficiency is a primary immunodeficiency disorder. It is inherited as an autosomal recessive disorder. That is, two genes for the disorder, one from each parent, are required.

In leukocyte adhesion deficiency, white blood cells are lacking a protein on their surface. As a result, white blood cells are less able to travel to sites of infection and to kill and ingest bacteria and other foreign invaders.

There are three forms of this disorder.

Symptoms

Symptoms of leukocyte adhesion deficiency usually begin during infancy.

In severely affected infants, infections develop in soft tissues, such as the gums, skin, and muscles. These infections recur and/or become worse, and affected tissues may die. No pus forms in infected areas. Infections become increasingly difficult to control.

Wounds do not heal well.

Often, the umbilical cord is slow to fall off, taking 3 weeks or more after birth. Normally, the umbilical cord falls off on its own a week or two after birth.

Most children with severe disease die by age 5 unless treated successfully with stem cell transplantation.

Less severely affected infants have few serious infections. They can survive until adulthood without treatment.

In children with one form of leukocyte adhesion deficiency, intellectual and physical development is often slow.

Diagnosis

  • Blood tests

A complete blood count is done. Also, special blood tests, including analysis of proteins on the surface of white blood cells (called flow cytometry), are used to diagnose leukocyte adhesion deficiency.

Genetic testing is recommended for siblings.

Treatment

  • Antibiotics

  • Granulocyte transfusions

  • Stem cell transplantation

Treatment of leukocyte adhesion deficiency includes antibiotics, often given continuously, to prevent infections. Transfusions of granulocytes (a type of white blood cells) can also help.

However, stem cell transplantation is the only effective treatment. It may provide a cure.

Gene therapy for this disorder is being studied.

For children with one type of the disorder, taking fucose (a sugar) supplements may help

* This is the Consumer Version. *