Leukocyte Adhesion deficiency
also see Phagocyte dysfunction, general

Genetics:

• Autosomal recessive (chromosome 21)
• Defect: Decreased levels/mutation of CD11/CD18 complex (ß2-integrin)
  • poor adhesion to vascular endothelium
  • impaired motility, chemotaxis, and phagocytosis

Clinical findings:

• Classic presentation: Delayed umbilical cord separation (>2 months)
• Recurrent bacterial and fungal infections
  • Skin, oral mucosa, sinopulmonary, lower intestinal tract, & genital mucosa
  • S. aureus, E. coli, Candida, Aspergillus
  • Absence of pus and neutrophils at wound site
• Persistent leukocytosis
• Poor wound healing: Skin infection may lead to chronic ulcers

Diagnosis:  Flow cytometric measurements of surface glycoprotein (CD11 & CD18) expression on stimulated and unstimulated neutrophils using monoclonal antibodies

Treatment:

• Prophylactic TMP/SMX
• Antibiotics
• BMT
• Gene therapy

CHLA Board Review 2005