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Hong et al. J Transl Genet Genom 2018;2:8. I https://doi.org/10.20517/jtgg.2018.06 Page 7 of 9
[10]
Database and PubMed. The first LAD-I was described in 1984 with more than 300 cases and 96 pathogenic
mutations [Table 2] [11-44] reported, including 22 different kinds of deletion mutations, 3 insertion, 5 deletion/
insertion, 11 nonsense, 12 splice and 43 missense. Mutations either lead to absent protein or expression of a
truncated form of the protein usually resulting in low or no expression. Three clinical phenotypes of LAD
I appear to be directly related to the level of CD18 expression on patients’ leucocytes. Patients with severe
0
−
phenotype have < 2% of CD18 expression (LAD-I ) whereas 2%-20% (LAD-I ) expression have moderate
+
phenotype. Rarely patients may have > 20% or near normal expression of CD18 (LAD-I ).
In conclusion, we presented a case of LAD-I associated with acquired CMV infection, an important
opportunistic pathogen in patients who are immunocompromised. The genetic investigation helped us to
identify the etiology of severe leukocytosis of the patient during his infancy. Following his discharge, further
clinical course was marked by successive and progressive infections. The patient was then recommended
to another hospital where HSCT is available for immunodeficiency. He was reported to be improving and
thriving until now.

DECLARATIONS
Authors’ contributions
Design: Zhu TW
Literature research: Hong S
Data collection and analysis: Xie LJ, Yang QN
Manuscript writing: Hong S
Manuscript editing: Zhu TW
Manuscript revision: Zhu TW

Availability of data and materials
The data were strictly obtained from medical records according to the privacy policy and ethics code of our
institute.

Financial support and sponsorship
None.

Conflicts of interest
All authors declared that there are no conflicts of interest.

Ethical approval and consent to participate
This study is approved by the institutional review board of Ethics Committee of Xinhua Hospital Affiliated
to Shanghai Jiaotong University School of Medicine. Written consent form was obtained from the patient.

Consent for publication
Not applicable.

Copyright
© The Author(s) 2018.

REFERENCES
1. Hanna S, Etzioni A. Leukocyte adhesion deficiencies. Ann N Y Acad Sci 2012;1250:50-5.
2. Schmidt S, Moser M, Sperandio M. The molecular basis of leukocyte recruitment and its deficiencies. Mol Immunol 2013;55:49-58.
3. Lim EC, Brett M, Lai AH, Lee SP, Tan ES, Jamuar SS, Ng IS, Tan EC. Next-generation sequencing using a pre-designed gene panel for the
molecular diagnosis of congenital disorders in pediatric patients. Hum Genomics 2015;9:33-43.