Patients have an increased incidence of bacterial infections, persistent
leukocytosis, poor pus formation and a number of neurological, developmental and physical abnormalities, typical dysmorphic features, the Bombay (hh) blood phenotype and severe growth and psychomotor retardation. Infections of the skin, lungs, and gums resemble those seen in the moderate type of LAD-1, but the frequency and severity of infections tend to decrease with age.
Diagnosis
Diagnostic recommendations
Additional Information
Therapeutic options
- Treatment with oral fucose has reduced the frequency of infections and fevers.
- Leukocyte adhesion deficiency, eMedicine