Arch Iran Med. 2018;21(7):296-301.
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Original Article

Novel Mutations in the β2 Integrin Gene (ITGB2) in a Moderate Leukocyte Adhesion Defect type 1 Patient

Jianxia Hu 1, Qiuye Zhang 2, Hongying Zheng 3, Hong Chang 2, Yuwei Xian 4, Nana Nie 2, Yi Lin 2 *

1 Laboratory of thyroid disease, the Affiliated Hospital of Qingdao University, Qingdao, China
2 Pediatrics Department, the Affiliated Hospital of Qingdao University, Qingdao, China
3 Clinical Laboratory, the Affiliated Hospital of Qingdao University, Qingdao, China
4 Department of Ultrasound, Oingdao Municipal Hospital, Qingdao, China
*Corresponding Author: Yi Lin, MD; No.16, Jiangsu Road, Qingdao, Shandong Province, China. 266003. Email:


Background: Leukocyte adhesion deficiency type 1 (LAD1) is an autosomal recessive disorder caused by reduced expression or function of CD18. It was well accepted that LAD1 resulted from mutations in the gene for the integrin β2 subunit.

Methods: We reported a moderate LAD1 patient with 2 novel ITGB2 mutations, and further investigated the role of the 2 mutations on the expression and function of CD18 by gene transfection.

Results: The 2 novel mutations included a frameshift deletion viz c.954G del, which was considered as a major pathogenic gene for the patient, and a missense mutation viz c.1802C>A (Cys601Phe), which caused a damaging effect on the ITGB2 protein. There was no significant difference in protein expression between 293 T cells with mutant ITGB2 p.601C>F and 293 T cells with wild type ITGB2. When investigating the cellular location of the mutant ITGB2 in HeLa cells, we found that the mutant ITGB2 (p.601C>F) protein could not locate to the cell membrane. This indicated that the mutant ITGB2 protein could not perform its function at cell membrane level.

Conclusion: The 2 novel ITGB2 mutations affected the expression and function of CD18 and might be pathogenic genes for LAD1.

Cite this article as: Hu J, Zhang Q, Zheng H, Chang H, Xian Y, Nie N, Lin Y. Novel mutations in the β2 integrin gene (ITGB2) in a moderate leukocyte adhesion defect type 1 patient. Arch Iran Med. 2018;21(7):296–301. 
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Submitted: 29 Dec 2017
Accepted: 17 Apr 2018
First published online: 01 Jun 2018
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