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Primary leucocyte alkaline phosphatase deficiency in an adult with repeated infections
Abstract:
An individual with repeated bacterial infections, eczema, hyperimmunoglobulin E, and a primary deficiency of leucocyte alkaline phosphatase is described. The Lap-deficient neutrophils from this patient had marginally deficient bactericidal activity particularly when challenged with high ratios of bacteria per neutrophil. Leucotactic, metabolic and morphologic features of the neutrophils from the patient were normal. Evidence is presented which contrasts this patient's condition with previously described primary or secondary deficiencies of LAP.
Insights
A primary deficiency in leucocyte alkaline phosphatase (LAP) was identified in a patient with recurrent bacterial infections and eczema. This deficiency marginally impaired neutrophil bactericidal activity, particularly against high bacterial loads.
Area of Science:
- Immunology
- Biochemistry
- Cell Biology
Background:
- Primary immunodeficiencies can manifest with recurrent infections and specific enzyme deficiencies.
- Leucocyte alkaline phosphatase (LAP) plays a role in neutrophil function.
- Hyperimmunoglobulin E syndrome is associated with immune dysregulation and eczema.
Observation:
- A patient presented with recurrent bacterial infections, eczema, and elevated immunoglobulin E levels.
- This individual exhibited a primary deficiency of leucocyte alkaline phosphatase (LAP).
- Neutrophils from the patient showed normal leucotaxis, metabolism, and morphology.
Findings:
- Neutrophil bactericidal activity was marginally deficient in the LAP-deficient patient.
- Impaired bacterial killing was most pronounced at high bacteria-to-neutrophil ratios.
- This case contrasts with other described primary or secondary LAP deficiencies.
Implications:
- Highlights a specific role for LAP in neutrophil-mediated bacterial clearance.
- Contributes to understanding the heterogeneity of immune defects in primary immunodeficiencies.
- Suggests LAP deficiency as a potential factor in recurrent infections despite normal neutrophil morphology and metabolism.