Leukocyte adhesion deficiency type 1 is a rare, autosomal recessive disorder that results from mutations in the ITGB2 gene. This gene encodes the CD18 subunit of β2 integrin leukocyte adhesion cell molecules. Leukocyte adhesion deficiency type 1 is characterized by recurrent bacterial infections, impaired wound healing, inadequate pus formation, and delayed separation of the umbilical cord.
Blood samples were taken from 13 patients after written consent had been obtained. Genomic DNA was extracted, and ITGB2 exons and exon-intron boundaries were amplified by polymerase chain reaction. The products were examined by Sanger sequencing.
In this study, 8 different previously reported mutations (intron7+1G>A, c.715G>A, c.1777 C>T, c.843del C, c.1768T>C, c.1821C>A, Intron7+1G>A, c.1885G>A) and 2 novel mutations (c.1821C>A; p.Tyr607Ter and c.1822C>T; p.Gln608Ter) were found.
c.1821C>A (p.Tyr607Ter) and c.1822C>T (p.Gln608Ter) mutations should be included in the panel of carrier detection and prenatal diagnosis.
*Department of Medical Genetics
∥Department of Allergy and Clinical Immunology, Hazrat Rasool Hospital
¶Department of Pediatrics, Ali Asghar Children Hospital
#Department of Biochemistry
**Department of Immunology, School of Medicine, Iran University of Medical Sciences (IUMS)
†Department of Infectious Diseases, Pediatric Infectious Diseases Research Center, School of Medicine
§Department of Pathology, Tehran University of Medical Sciences (TUMS), Tehran, Iran
‡Sanquin Research, and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Supported by Iran University School of medicine; grant number 93-04-30-25255.
The authors declare no conflict of interest.
Reprints: Shahram Teimourian, PhD, PD, Department of Medical Genetics, Iran University of Medical Sciences (IUMS), Crossroads of Shahid Hemmat & Shahid Chamran Highways, P.O. Box: 15875-6171, 1449614535 Tehran, Iran (e-mail: email@example.com).
Received January 1, 2018
Accepted April 15, 2018