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Leukocyte adhesion deficiency-1
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Leukocyte adhesion deficiency-1 : ウィキペディア英語版
Leukocyte adhesion deficiency-1

Leukocyte adhesion deficiency-1 (LAD1) is a rare and often fatal genetic disorder in humans.
==Mechanism==
LAD1 is caused by mutations in the ITGB2 gene which are inherited autorecessively. This gene encodes CD18, a protein present in several cell surface receptor complexes found on white blood cells,〔Etzioni A, Harlan JM. Cell adhesion and leukocyte adhesion defects. In: Ochs HD, Smith CIE, Puck JM, eds. Primary immunodeficiency diseases: a molecular and genetic approach. Oxford: Oxford University Press, 2007:550–564.〕 including lymphocyte function-associated antigen 1 (LFA-1), complement receptor 3 (CR-3), and complement receptor 4 (CR-4). The deficiency of LFA-1 causes neutrophils to be unable to adhere to and migrate out of blood vessels, so their counts can be high. It also impairs immune cell interaction, immune recognition, and cell-killing lymphocyte functions. The lack of CR3 interferes with chemotaxis, phagocytosis, and respiratory burst.

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