Leukocyte adhesion deficiency is an immunodeficiency disorder in which 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.
(See also Overview of Immunodeficiency Disorders.)
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 one of several proteins on their surface that help the cells move and to attach (adhere) to blood vessels and foreign cells. 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 that are distinguished by the specific biochemical part of the immune system affected.
Dalili za Upungufu wa Leukocyte Adhesion
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 years 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.
Utambuzi wa Upungufu wa Leukocyte Adhesion
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.
Matibabu ya Upungufu wa Leukocyte Adhesion
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 has been used in a few people with specific genetic mutations. 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
Taarifa Zaidi
The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
Immune Deficiency Foundation: Leukocyte adhesion deficiency: Comprehensive information on leukocyte adhesion deficiency, including information on diagnosis and treatment and advice for people affected
