LAD3 deficiency

Patients have recurent bacterial infections, localised to skin and mucosal surfaces with no pus formation, omphalitis with delayed separation of the umbilical cord. Severe bleeding tendency starting at delivery or later and defects in platelet activation. Impaired healing of traumatic or surgical wounds.

Therapeutic options

  • Prompt antibiotic therapy initiated early in case of acute infection. Granulocyte transfusion is restricted to life-threatening situations when all other measures have failed. Blood transfusion in case of bleeding episodes.
  • Leukocyte adhesion deficiency, eMedicine

Research programs, clinical trials