Article
Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Blood cells, molecules & diseases - 1 Mar 2023
Roos Dirk, van Leeuwen Karin, Madkaikar Manisha, Kambli Priyanka M, Gupta Maya, Mathews Vikram, Rawat Amit, Kuhns Douglas B, Holland Steven M, de Boer Martin, Kanegane Hirokazu, Parvaneh Nima, Lorenz Myriam, Schwarz Klaus, Klein Christoph, Sherkat Roya, Jafari Mahbube, Wolach Baruch, den Dunnen Johan T, Kuijpers Taco W, Köker M Yavuz
Abstract excerpt
Leukocyte adhesion deficiency (LAD) is an immunodeficiency caused by defects in the adhesion of leukocytes (especially neutrophils) to the blood vessel wall. As a result, patients with LAD suffer from severe bacterial infections and impaired wound healing, accompanied by neutrophilia. In LAD-I, characterized directly after birth by delayed separation of the umbilical cord, mutations are found in ITGB2, the gene...
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