Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1

• Main Authors: Guan, Siyu, Tan, Suet-Mien, Li, Yan, Torres, Jaume, Uzel, Gulbu, Xiang, Liming, Law, S.K. Alex
• Other Authors: School of Biological Sciences
• Format: Article
• Language: English
• Published: 2015
• Subjects: DRNTU::Science::Biological sciences::Molecular biology
• Online Access: https://hdl.handle.net/10356/106915; http://hdl.handle.net/10220/25195
• Institution: Nanyang Technological University

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...