Leukocyte adhesion defect-I: rare primary immune deficiency.

Area of Science:

• Immunology
• Genetics
• Pediatric Dentistry

Background:

• Leukocyte adhesion defect I (LAD I) is a rare primary immunodeficiency affecting leukocyte function.
• It results from diminished expression of CD-18 β2 integrins, crucial for leukocyte adhesion and migration.
• The condition has a prevalence of approximately 1:1,000,000 births.

Observation:

• A 5-year-old girl with consanguineous parents presented with painful, mobile primary teeth and a history of recurrent infections.
• Clinical examination revealed periodontitis, missing teeth, and scars on hands and feet.
• Genetic analysis confirmed a frame shift mutation in ITGB2 (encoding CD-18) with severely reduced CD18 expression (3%).

Findings:

• The patient's presentation of severe periodontitis and missing teeth in primary dentition is consistent with LAD I.
• The genetic mutation ITGB2 and low CD18 levels confirm the diagnosis.
• The case highlights the significant oral manifestations of LAD I.

Implications:

• Early recognition of oral symptoms and comprehensive medical history are vital for diagnosing rare immune disorders like LAD I.
• Interdisciplinary care involving pediatric dentists and immunologists is essential for optimal management.
• Prompt diagnosis and management can improve outcomes for patients with leukocyte adhesion defects.