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Leukocyte adhesion deficiency: causes, symptoms, diagnosis, treatment
Last reviewed: 04.07.2025
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Leukocyte Adhesion Deficiency ( LAD ). LAD type 1 is inherited in an autosomal recessive manner and affects both sexes. The disease is caused by a mutation in the gene encoding the beta 2 -subunit of neutrophil integrin (the central link in cellular complement-dependent interactions). The content of receptors on the cell surface involved in adhesion processes (CD11a/CD18) is sharply reduced or not detectable. LAD-1 is characterized by impaired transendothelial adhesion and chemotaxis of neutrophils, as well as the ability to digest CD3-opsonized bacteria.
Leukocyte adhesion deficiency due to a defect in the Sialyl-Lewis X structure (LAD-2). The probable mode of inheritance is autosomal recessive and is extremely rare. LAD-2 neutrophil adhesion defect is associated with a defect in fucose metabolism, probably due to a mutation in the fucosyltransferase genes.
Other abnormalities associated with defective neutrophil motility have been described in isolated cases.
The clinical picture of LAD depends on the severity of the defect. In patients with a complete absence of CD18/CD11b, the onset of the disease is observed in the neonatal period: non-healing of the umbilical wound, omphalitis, perirectal cellulitis, ulcerative stomatitis, sepsis with a fatal course. With a moderate severity of the defect - frequent repeated bacterial infections, mainly skin and mucous membranes, periodontitis, sinusitis, gastrointestinal lesions (esophagitis, erosive gastritis, necrotizing enterocolitis). The absence of pus in the foci of inflammation is characteristic. At the height of the infection, persistent leukocytosis (often hyperleukocytosis) and neutrophilia are typical, during convalescence the number of neutrophils decreases. The clinical picture and principles of therapy for LAD-2 are similar to those for LAD-1. The fucosylation defect characteristic of LAD-2, in addition to immunodeficiency, manifests itself in a specific phenotype of sick children: short stature, flat face, wide bridge of the nose, short limbs, wide palms, delayed mental and psychomotor development. Neutrophils of patients are unable to adhere to the vascular endothelium and penetrate into the inflammation site.
Diagnosis of leukocyte adhesion deficiency type 1 is based on immunophenotyping of neutrophils using flow cytometry to detect deficiency in the expression of CD 18 and CD 11b on their surface.
Treatment of leukocyte adhesion deficiency type 1 involves correct antibacterial treatment tactics during acute infections, taking into account the results of bacteriological studies, and using all possible infection control measures, including granulocyte transfusions. The prognosis is unfavorable. Cure is possible only with allogeneic bone marrow transplantation in the presence of a compatible donor. In moderate cases, a significant reduction in the frequency and severity of infection is possible with adequate drug (co-trimoxazole) and dental prophylaxis.
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