Amyloidosis in a child with leucocyte adhesion deficiency type-1: an unusual association

Area of Science:

• Immunology
• Genetics
• Pathology

Background:

• Leucocyte adhesion deficiency type I (LAD I) is a rare autosomal recessive disorder impacting immune cell function.
• Key characteristics include recurrent infections, impaired wound healing, and persistent neutrophilia.

Observation:

• This report describes a pediatric patient diagnosed with LAD I.
• The patient experienced a fatal progression of the illness.

Findings:

• The patient developed amyloidosis terminally, a complication previously unreported in human LAD I cases.
• This represents the first documented instance of LAD I associated with amyloidosis globally.

Implications:

• This finding expands the known clinical spectrum of LAD I.
• It highlights the potential for systemic complications like amyloidosis in severe cases of LAD I.
• Further research into the mechanisms linking LAD I and amyloidosis is warranted.