Page 25 - Read Online
P. 25
Hong et al. J Transl Genet Genom 2018;2:8. I https://doi.org/10.20517/jtgg.2018.06 Page 9 of 9
conserved region of CD18 impair cell surface expression of beta 2 integrins. J Biol Chem 1992;267:3351-7.
35. Shaw JM, Al-Shamkhani A, Boxer LA, Buckley CD, Dodds AW, Klein N, Nolan SM, Roberts I, Roos D, Scarth SL, Simmons DL, Tan
SM, Law SK. Characterization of four CD18 mutants in leucocyte adhesion deficient (LAD) patients with differential capacities to support
expression and function of the CD11/CD18 integrins LFA-1, Mac-1 and p150,95. Clin Exp Immunol 2001;126:311-8.
36. Back AL, Kerkering M, Baker D, Bauer TR, Embree LJ, Hickstein DD. A point mutation associated with leukocyte adhesion deficiency
type 1 of moderate severity. Biochem Biophys Res Commun 1993;193:912-8.
37. Li L, Jin YY, Cao RM, Chen TX. A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient. Chin Med J
(Engl) 2010;123:1278-82.
38. Bruno DL, Stark Z, Amor DJ, Burgess T, Butler K, Corrie S, Francis D, Ganesamoorthy D, Hills L, James PA, O’Rielly D, Oertel R,
Savarirayan R, Prabhakara K, Salce N, Slater HR. Extending the scope of diagnostic chromosome analysis: detection of single gene defects
using high-resolution SNP microarrays. Hum Mutat 2011;32:1500-6.
39. Kishimoto TK, O’Conner K, Springer TA. Leukocyte adhesion deficiency. Aberrant splicing of a conserved integrin sequence causes a
moderate deficiency phenotype. J Biol Chem 1989;264:3588-95.
40. Wright AH, Douglass WA, Taylor GM, Lau YL, Higgins D, Davies KA, Law SK. Molecular characterization of leukocyte adhesion
deficiency in six patients. Eur J Immunol 1995;25:717-22.
41. Fathallah DM, Jamal T, Barbouche MR, Bejaoui M, Hariz MB, Dellagi K. Two novel frame shift, recurrent and de novo mutations in the
ITGB2 (CD18) gene causing leukocyte adhesion deficiency in a highly inbred North African population. J Biomed Biotechnol 2001;1:114-
21.
42. Hixson P, Smith CW, Shurin SB, Tosi MF. Unique CD18 mutations involving a deletion in the extracellular stalk region and a major
truncation of the cytoplasmic domain in a patient with leukocyte adhesion deficiency type 1. Blood 2004;103:1105-13.
43. Fiorini M, Vermi W, Facchetti F, Moratto D, Alessandri G, Notarangelo L, Caruso A, Grigolato P, Ugazio AG, Notarangelo LD, Badolato R.
Defective migration of monocyte-derived dendritic cells in LAD-1 immunodeficiency. J Leukoc Biol 2002;72:650-6.
44. Roos D, Meischl C, de Boer M, Simsek S, Weening RS, Sanal O, Tezcan I, Güngör T, Law SK. Genetic analysis of patients with leukocyte
adhesion deficiency: genomic sequencing reveals otherwise undetectable mutations. Exp Hematol 2002;30:252-61.