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Related Experiment Videos

Leukocyte adhesion deficiency: molecular basis and functional consequences.

A Fischer1, B Lisowska-Grospierre, D C Anderson

  • 1Inserm U 132, Hôpital des Enfants-Malades, Paris, France.

Immunodeficiency Reviews
|January 1, 1988
PubMed
Summary

Leukocyte adhesion deficiency disease results from beta-subunit gene mutations, impairing leukocyte adhesion and causing severe infections. Bone marrow transplantation offers a cure, and LFA-1 antibodies may provide immunotherapy.

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Area of Science:

  • Immunology
  • Genetics
  • Cell Biology

Background:

  • Leukocyte adhesion deficiency (LAD) is a genetic disorder affecting immune cell function.
  • It stems from mutations in the gene for a beta-subunit common to leukocyte adhesion molecules LFA-1, Mac-1, and p150,95.
  • This defect impairs phagocytic cell migration to infection sites.

Purpose of the Study:

  • To elucidate the molecular basis and clinical manifestations of LAD.
  • To explore therapeutic strategies for LAD, including bone marrow transplantation and immunotherapy.

Main Methods:

  • Analysis of beta-subunit gene mutations.
  • Assessment of leukocyte adhesion molecule expression (LFA-1, Mac-1, p150,95).
  • Clinical evaluation of infection susceptibility and treatment outcomes.

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Main Results:

  • Mutations lead to absent or abnormal beta-subunit expression, causing defective heterodimer function.
  • Severe LAD shows absent surface expression, moderate LAD shows low expression.
  • Patients experience severe bacterial and fungal infections; bone marrow transplantation is curative.
  • Impaired T-lymphocyte adhesion is noted, but alternative pathways exist.

Conclusions:

  • LAD is characterized by impaired leukocyte adhesion due to beta-subunit defects, leading to recurrent infections.
  • Allogeneic bone marrow transplantation is a definitive treatment.
  • The lack of graft rejection in severe LAD suggests potential for LFA-1 targeted immunotherapy.