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Pathology - Leukocyte Adhesion Defect
Leukocyte adhesion defect is a rare autosomal recessive disorder that comes from mutations of either integrin-mediated leukocyte adhesion (β2 integrin subunit deficiency) or selectin-mediated leukocyte rolling. Thus, neutrophils are not able to connect to the endothelium and undergo diapedesis to reach affected tissues, hence patients are susceptible to bacterial and fungal infections. Significantly high amounts of blood leukocytes are discovered due to the inability of neutrophils to escape the blood arteries. Impaired wound healing with the absence of pus is characteristic.
A crucial discovery in this condition is delayed loss of the umbilical chord. Hematopoietic stem cell transplantation may be required in severe types. Currently, bone marrow transplantation is the only curative treatment, however gene therapy may be a possibility in the future.
Leukocyte adhesion defect is a rare autosomal recessive disorder that comes from mutations of either integrin-mediated leukocyte adhesion (β2 integrin subunit deficiency) or selectin-mediated leukocyte rolling. Thus, neutrophils are not able to connect to the endothelium and undergo diapedesis to reach affected tissues, hence patients are susceptible to bacterial and fungal infections. Significantly high amounts of blood leukocytes are discovered due to the inability of neutrophils to escape the blood arteries. Impaired wound healing with the absence of pus is characteristic.
A crucial discovery in this condition is delayed loss of the umbilical chord. Hematopoietic stem cell transplantation may be required in severe types. Currently, bone marrow transplantation is the only curative treatment, however gene therapy may be a possibility in the future.
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