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 Overview of Immunodeficiency Disorders Immunodeficiency disorders involve malfunction of the immune system, resulting in infections that develop and recur more frequently, are more severe, and last longer than usual. Immunodeficiency... read more .)
Leukocyte adhesion deficiency is a primary immunodeficiency disorder Primary immunodeficiency Immunodeficiency disorders involve malfunction of the immune system, resulting in infections that develop and recur more frequently, are more severe, and last longer than usual. Immunodeficiency... read more . It is inherited as an autosomal recessive disorder Recessive disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more . That is, two genes for the disorder, one from each parent, are required.
In leukocyte adhesion deficiency, white blood cells Components of the Immune System The immune system is designed to defend the body against foreign or dangerous invaders. Such invaders include Microorganisms (commonly called germs, such as bacteria, viruses, and fungi) Parasites... read more 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.
Symptoms of Leukocyte Adhesion Deficiency
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.
Diagnosis of Leukocyte Adhesion Deficiency
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 of Leukocyte Adhesion Deficiency
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 Stem Cell Transplantation Stem cell transplantation is the removal of stem cells (undifferentiated cells) from a healthy person and their injection into someone who has a serious blood disorder. (See also Overview of... read more 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
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