Journal of Clinical Immunology

, Volume 30, Issue 5, pp 756–760

Characterization of 11 New Cases of Leukocyte Adhesion Deficiency Type 1 with Seven Novel Mutations in the ITGB2 Gene

  • Nima Parvaneh
  • Setareh Mamishi
  • Amir Rezaei
  • Nima Rezaei
  • Banafshe Tamizifar
  • Leila Parvaneh
  • Roya Sherkat
  • Babak Ghalehbaghi
  • Sara Kashef
  • Zahra Chavoshzadeh
  • Anna Isaeian
  • Farzaneh Ashrafi
  • Asghar Aghamohammadi
Article

DOI: 10.1007/s10875-010-9433-2

Cite this article as:
Parvaneh, N., Mamishi, S., Rezaei, A. et al. J Clin Immunol (2010) 30: 756. doi:10.1007/s10875-010-9433-2

Abstract

Background

Leukocyte adhesion deficiency type 1 (LAD I) is an autosomal recessive disorder caused by mutations in the ITGB2 gene, encoding the β2 integrin family. Severe recurrent infections, impaired wound healing, and periodontal diseases are the main features of disease.

Methods

In order to investigate clinical and molecular manifestations of new LAD I cases, 11 patients diagnosed in one center during 7 years were studied. Patients were screened for the ITGB2 gene mutations, using polymerase chain reaction, followed by single-strand conformation polymorphism and sequencing.

Results

The most common first presenting feature of the patients was omphalitis. The mean age of cord separation was 19.9 ± 1 days. The most common clinical manifestations of the patients during the follow-up period included omphalitis, skin ulcers with poor healing, sepsis, and otitis media. During the follow-up, eight patients died. Eight homozygous changes, including seven novel mutations, were detected: two splicing (IVS4−6C>A, IVS7+1G>A), three missense (Asp128Tyr, Ala239Thr, and Gly716Ala), and three frameshift deletions (Asn282fsX41, Tyr382fsX9, and Lys636fsX22).

Conclusion

Our results indicate that different mutations underlie the development of LAD I. Definitive molecular diagnosis is valuable for genetic counseling and prenatal diagnosis. Regarding clinical presentations, it seems that omphalitis is the most consistent finding seen in LAD I infants.

Keywords

β2 integrinITGB2leukocyte adhesion deficiency type 1 (LAD I)

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Nima Parvaneh
    • 1
    • 2
    • 3
  • Setareh Mamishi
    • 1
    • 2
  • Amir Rezaei
    • 2
  • Nima Rezaei
    • 2
    • 3
  • Banafshe Tamizifar
    • 4
  • Leila Parvaneh
    • 5
  • Roya Sherkat
    • 6
  • Babak Ghalehbaghi
    • 7
  • Sara Kashef
    • 8
  • Zahra Chavoshzadeh
    • 9
  • Anna Isaeian
    • 2
  • Farzaneh Ashrafi
    • 10
  • Asghar Aghamohammadi
    • 2
    • 3
  1. 1.Infectious Disease Research CenterTehran University of Medical SciencesTehranIran
  2. 2.Department of Pediatrics, Pediatrics Center of Excellence, Children’s Medical CenterTehran University of Medical SciencesTehranIran
  3. 3.Research Group for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical CenterTehran University of Medical SciencesTehranIran
  4. 4.Department of Dermatology, Razi HospitalTehran University of Medical SciencesTehranIran
  5. 5.Department of BiochemistryTarbiat Modares UniversityTehranIran
  6. 6.Infectious Diseases and Tropical Medicine Research CenterIsfahan University of Medical SciencesIsfahanIran
  7. 7.Department of Pediatrics, Rasoul Akram HospitalIran University of Medical SciencesTehranIran
  8. 8.Allergy Research Center, Department of Pediatrics, Namazi HospitalShiraz University of Medical SciencesShirazIran
  9. 9.Department of Pediatrics, Mofid Children HospitalShaheed Beheshti University of Medical SciencesTehranIran
  10. 10.Department of Internal MedicineIsfahan University of Medical SciencesIsfahanIran