Leukocyte Adhesion Deficiency Type 1 Due to Novel ITGB2 Mutation

Area of Science:

• Immunology
• Genetics
• Pediatrics

Background:

• Leukocyte adhesion deficiency type 1 (LAD1) is a rare primary immunodeficiency disorder.
• Diagnosis typically requires specialized molecular diagnostics.
• The disorder impairs neutrophil function, leading to recurrent infections.

Observation:

• An infant presented with marked neutrophilia and omphalitis.
• This presentation led to the diagnosis of the first case of LAD1 in Ireland.
• A novel ITGB2 mutation was identified as the cause.

Findings:

• Early identification enabled prompt referral for hematopoietic stem cell transplant (HSCT).
• The patient achieved an excellent outcome following HSCT.
• This case highlights the diagnostic challenges and successful treatment of LAD1.

Implications:

• Physicians should consider LAD1 in infants with omphalitis and neutrophilia.
• Molecular diagnostics are crucial for identifying LAD1 and guiding treatment.
• The discovery of a new mutation expands the understanding of LAD1 genetic basis.