Leukocyte adhesion deficiency results from an adhesion molecule defect that causes granulocyte and lymphocyte dysfunction and recurrent soft-tissue infections.

Inheritance is autosomal recessive. Leukocyte adhesion deficiency is caused by deficiency of adhesive glycoproteins on the surfaces of WBCs; these glycoproteins facilitate cellular interactions, cell attachment to blood vessel walls, cell movement, and interaction with complement fragments. Deficiencies impair the ability of granulocytes (and lymphocytes) to migrate out of the intravascular compartment, to engage in cytotoxic reactions, and to phagocytose bacteria. Severity of disease correlates with degree of deficiency.

Severely affected infants have recurrent or progressive necrotic soft-tissue infections with staphylococcal and gram-negative bacteria, periodontitis, poor wound healing, leukocytosis, and delayed (> 3 wk) umbilical cord detachment. WBC counts remain high even between infections. Infections become increasingly difficult to control.

Diagnosis

Diagnosis is by detecting absence or severe deficiency of adhesive glycoproteins on the surface of WBCs using monoclonal antibodies (eg, anti-CD11, anti-CD18) and flow cytometry. Leukocytosis on CBC is common but nonspecific.

Treatment

Most patients die by age 5 unless treated successfully with bone marrow transplantation, but moderately affected patients survive into young adulthood.

Treatment is with antibiotics, often given continuously. Granulocyte transfusions can also help. Bone marrow transplantation is the only effective treatment and can be curative.

Last full review/revision September 2008 by Rebecca H. Buckley, MD