Leukocyte Adhesion Deficiency (LAD)
A rare primary immunodeficiency in which white blood cells cannot properly stick to and migrate through blood vessel walls to fight infection, leading to recurrent, often severe bacterial infections.
- Rare primary immunodeficiency
- Recurrent bacterial infections
- Delayed wound healing
- Stem cell transplant can be curative
- Estimated Prevalence
- 1 in 1,000,000 (LAD-I)
- Inheritance Pattern
- Autosomal Recessive
- Typical Onset
- Newborn Period–Infancy
- Advanced Therapies
- Curative Stem Cell Transplant
What Is Leukocyte Adhesion Deficiency?
Leukocyte Adhesion Deficiency (LAD) is a group of rare primary immunodeficiencies caused by defects in the proteins that allow white blood cells, particularly neutrophils, to adhere to blood vessel walls and migrate to sites of infection. Without this adhesion step, neutrophils cannot reach infected tissue effectively, despite often being present in very high numbers in the blood. This leads to recurrent, severe bacterial and fungal infections and poor wound healing, typically beginning in the newborn period.
Types of Leukocyte Adhesion Deficiency
LAD is classified into three main types based on the specific adhesion molecule affected, each with a distinct genetic cause and severity profile.
Symptoms of Leukocyte Adhesion Deficiency
Symptoms typically begin very early in life and reflect the inability of white blood cells to fight infection effectively at tissue sites.
Causes and Risk Factors
LAD results from inherited mutations affecting the molecules neutrophils use to stick to and cross blood vessel walls during an immune response.
How Leukocyte Adhesion Deficiency Is Diagnosed
Diagnosis relies on recognizing the characteristic clinical pattern, supported by specific immune function testing and genetic confirmation.
Disease Severity Classification
LAD-I is generally classified by the degree of residual CD18 expression, which correlates with clinical severity and prognosis.
Standard Treatment Approach
Management focuses on aggressive infection prevention and treatment, supportive wound care, and evaluation for curative transplant in severe disease.
Advanced and Emerging Therapies
Stem cell transplant offers a potential cure for severe LAD, while research continues into gene therapy and targeted approaches.
Hematopoietic Stem Cell Transplant
Allogeneic HSCT
Currently the most established curative option for severe LAD-I and LAD-III, ideally performed before significant infection-related damage occurs.
Granulocyte Transfusion
Supportive Granulocyte Transfusion
Used in select severe acute infections as a temporary supportive measure.
Gene Therapy Research
Investigational Gene Correction for ITGB2
Early-stage research exploring gene therapy as a potential alternative to transplant for LAD-I.
Targeted Fucose Supplementation
Oral Fucose Therapy (LAD-II)
May improve some immune and developmental features in select LAD-II patients with specific underlying defects.
Key Biomarkers and Laboratory Markers
Specific flow cytometry and blood count findings support diagnosis and severity assessment.
When to Seek a Second Opinion
Given the rarity and potential severity of LAD, specialist input can be important at several stages of care.
Clinical Trials and Research
Outlook and Long-Term Prognosis
Prognosis depends heavily on LAD subtype and severity; severe LAD-I has historically carried a high risk of early mortality without transplant, while moderate deficiency and some LAD-II cases may have a more favorable course.
Supportive and Quality-of-Life Care
Comprehensive supportive care addresses wound healing, infection prevention, dental health, and family wellbeing.
How CancerFax Helps You Explore Treatment Options
CancerFax can help you organize your child's immunology records and connect with specialists experienced in managing Leukocyte Adhesion Deficiency, including transplant evaluation.
Get a free case reviewFrequently Asked Questions About Leukocyte Adhesion Deficiency
Leukocyte Adhesion Deficiency is a rare primary immunodeficiency in which white blood cells cannot properly adhere to blood vessel walls and migrate to sites of infection, leading to recurrent, often severe bacterial infections.
There are three main types: LAD-I, caused by ITGB2 mutations and the most common form; LAD-II, caused by SLC35C1 mutations; and LAD-III, caused by FERMT3 mutations, which also affects platelet function.
Delayed separation of the umbilical cord stump, often beyond three to four weeks, combined with infection at the site, is a classic early clue suggesting LAD-I.
Diagnosis combines clinical history with blood tests showing persistently high neutrophil counts, flow cytometry confirming reduced CD18 expression, and genetic testing to confirm the specific subtype.
Hematopoietic stem cell transplant can be curative for severe LAD, particularly LAD-I and LAD-III, when performed before significant infection-related complications occur.
Neutrophils are produced normally but cannot adhere to blood vessel walls and exit into infected tissue, so despite high circulating counts, they cannot effectively fight infection at the site where it is needed.
Yes. All forms of LAD are inherited in an autosomal recessive pattern, meaning a child must inherit a mutated copy of the gene from each parent.
Yes. Because white blood cells cannot migrate effectively to injured tissue, wound healing is often significantly delayed in people with LAD.
Yes. Severe periodontal (gum) disease is a common and sometimes early feature of LAD, requiring regular dental monitoring and treatment.
Yes. CancerFax can help you organize and send your medical reports for specialist review, coordinate a second opinion, and explore access to advanced therapies such as stem cell transplant, including international coordination where relevant.
Need Help Navigating LAD Care?
Send your medical reports for review and let our team help you connect with specialists and explore advanced treatment options.