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Published on: March 21, 2014
[Leukocyte adhesion deficiency syndrome: case report]
M D Mogica-Martínez1, J L López-Durán, M R Canseco-Raymundo
1Servicio de Alergia e Inmunología Clínica, Hospital de Especialidades Centro Médico Nacional La Raza, IMSS, México.
Revista Alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)
|November 30, 1999
Summary
Leukocyte adhesion deficiency (LAD) is a rare phagocytic disorder. Diagnosis requires considering LAD in infants with delayed umbilical cord detachment and severe infections, alongside elevated white blood cell counts.
Area of Science:
- Immunology
- Pediatric Infectious Diseases
Background:
- Leukocyte adhesion deficiency syndrome (LAD) is a rare primary immunodeficiency characterized by defective integrin expression on phagocytes.
- This deficiency impairs leukocyte adhesion, crucial for immune cell migration to sites of infection.
Observation:
- A neonate presented with delayed umbilical cord detachment, fever, and skin lesions progressing to cellulitis and necrosis.
- The infant experienced recurrent bacterial and fungal infections, leading to sepsis, psychomotor impairment, and malnutrition.
- Persistent leukocytosis with neutrophilia and defective neutrophil chemotaxis were noted.
Findings:
- Flow cytometry confirmed a deficiency in CD11/18 adhesion molecules.
- Immunological workup, bone marrow biopsy, and viral tests were within normal limits, ruling out other immunodeficiencies.
Implications:
- Leukocyte adhesion defects should be suspected in infants with characteristic clinical signs, even with other immunodeficiencies ruled out.
- Early diagnosis and management of LAD are critical to prevent severe infections and improve outcomes.
