Leukocyte adhesion deficiency 1 (LAD-1) is caused by defects in the β2 integrin subunit. We studied 18 missense mutations, 14 of which fail to support the surface expression of the β2 integrins. Integrins with the β2-G150D mutation fail to bind ligands, possibly due to the failure of the α1 segment of the βI domain to assume an α-helical structure. Integrins with the β2-G716A mutation are not maintained in their resting states, and the patient has the severe phenotype of LAD-1. The β2-S453N and β2-P648L mutants support the expression of integrins and adhesion functions. They should be re-classified as polymorphic variants.

译文

:白细胞粘附缺乏症1(LAD-1)是由β2整联蛋白亚基的缺陷引起的。我们研究了18个错义突变,其中14个不能支持β2整合素的表面表达。具有β2-G150D突变的整联蛋白不能结合配体,这可能是由于βI结构域的α1区段无法呈现α螺旋结构所致。具有β2-G716A突变的整联蛋白不能保持在静止状态,并且患者具有严重的LAD-1表型。 β2-S453N和β2-P648L突变体支持整合素的表达和粘附功能。应该将它们重新分类为多态变体。

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