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Investigation of Itgb2 Gene in 12 New Cases of Leukocyte Adhesion Deficiency-Type I Revealed Four Novel Mutations From Iran Pubmed



Mortezaee FT1 ; Esmaeli B1 ; Badalzadeh M1 ; Ghadami M2 ; Fazlollahi MR1 ; Alizade Z1 ; Hamidieh AA3 ; Chavoshzadeh Z4 ; Movahedi M5 ; Heydarzadeh M6 ; Shabestari MS7 ; Tavassoli M8 ; Nabavi M9 ; Kalmarzi RN10 Show All Authors
Authors
  1. Mortezaee FT1
  2. Esmaeli B1
  3. Badalzadeh M1
  4. Ghadami M2
  5. Fazlollahi MR1
  6. Alizade Z1
  7. Hamidieh AA3
  8. Chavoshzadeh Z4
  9. Movahedi M5
  10. Heydarzadeh M6
  11. Shabestari MS7
  12. Tavassoli M8
  13. Nabavi M9
  14. Kalmarzi RN10
  15. Pourpak Z1
Show Affiliations
Authors Affiliations
  1. 1. Immunology Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Hematology Oncology and Stem Cell Transplantation Research Center, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Department of Pediatrics, Mofid Children Hospital, Shaheed Beheshti University of Medical Sciences, Tehran, Iran
  5. 5. Department of Allergy and Clinical Immunology, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Department of Pediatrics, Kashan University of Medical Sciences, Kashan, Iran
  7. 7. Tuberculosis and Lung Research Center of Tabriz, Children Hospital, Ta-briz University of Medical Sciences, Tabriz, Iran
  8. 8. Isfahan University of Medical Sciences, Isfahan, Iran
  9. 9. Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran
  10. 10. Department of Pediatrics, Kurdistan University of Medical Sciences, Sanandaj, Iran

Source: Archives of Iranian Medicine Published:2015


Abstract

Background: Leukocyte adhesion deficiency type I (LAD-1) is a rare, autosomal recessive inherited immunodeficiency disease. LAD-1 is caused by mutations in the ITGB2 gene and characterized by recurrent severe bacterial infections, as well as impaired wound healing with lack of pus formation. Methods: In this study, we investigated ITGB2 gene mutations in 12 patients and their parents. Genomic DNA was extracted from whole blood samples. All coding regions of the ITGB2 gene were amplified using PCR and followed by direct sequencing. Results: Genetic analysis revealed 12 different homozygous mutations, including six missense (c.382G>A, c.2146G>C, c.715G>A, c.691G>C, C.1777C and new c.1686C>A,) two new nonsense (c.1336G>T and c.1821C>A), three-frame shift (c.1143delc, c.1907delA and new c.474dupC) and a splice site (c.1877+2T>C). Flow cytometry analysis of CD11/CD18 expression on neutrophils revealed defect in CD18 in all twelve cases (1.4% to 42%), CD11a in ten cases (0.1% to 26.7%), CD11b in nine cases (1.2% to 58.8%), and CD11c in all cases (o % to 18.1 %). The patients’ parents were both heterozygous carriers. Conclusion: Our findings showed four new mutations in the ITGB2 gene. These results can be used for decisive genetic diagnosis, genetic counseling, as well as prenatal diagnosis for all patients who are suspended to LADI. © 2015, Academy of Medical Sciences of the I.R. Iran. All rights reserved.
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