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Hematologically important mutations: leukocyte adhesion deficiency.

D Roos¹, S K Law

¹Department of Experimental Immunohematology, CLB, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. d_roos@clb.nl

Blood Cells, Molecules & Diseases

|February 8, 2002

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Leukocyte adhesion deficiency (LAD) is an immunodeficiency impairing bacterial defense and wound healing. This review details known genetic mutations in LAD-I and LAD-II, crucial for understanding disease mechanisms.

Area of Science:

Immunology
Genetics
Molecular Biology

Background:

Leukocyte adhesion deficiency (LAD) is a group of primary immunodeficiencies characterized by impaired leukocyte (especially neutrophil) adhesion to blood vessel walls.
This adhesion defect leads to recurrent severe bacterial infections and compromised wound healing in affected individuals.
LAD encompasses distinct subtypes, including LAD-I and LAD-II, each with unique molecular underpinnings.

Purpose of the Study:

To comprehensively review and summarize all documented patient mutations and polymorphisms in the genes associated with Leukocyte Adhesion Deficiency.
To provide an updated genetic landscape of LAD-I and LAD-II for researchers and clinicians.
To consolidate information on genetic variations impacting leukocyte function and immune response.

Main Methods:

Related Experiment Videos

Literature review of published studies on Leukocyte Adhesion Deficiency.
Systematic compilation of identified mutations and polymorphisms in the INTG2 gene (LAD-I).
Systematic compilation of identified mutations and polymorphisms in the GDP-fucose transporter gene (LAD-II).

Main Results:

LAD-I is primarily caused by mutations in the ITGB2 gene, encoding the beta-2 integrin subunit, essential for leukocyte adhesion.
LAD-II results from mutations affecting the GDP-fucose transporter in the Golgi, disrupting selectin ligand fucosylation and subsequent leukocyte trafficking.
The article presents a comprehensive catalog of known patient mutations and polymorphisms for both LAD-I and LAD-II.

Conclusions:

Genetic defects in leukocyte adhesion, as seen in LAD-I and LAD-II, result in severe immunodeficiency with distinct molecular causes.
Understanding the spectrum of mutations and polymorphisms is critical for accurate diagnosis, genetic counseling, and potential therapeutic strategies.
This review serves as a valuable resource for the scientific and medical community studying leukocyte adhesion and primary immunodeficiencies.