ImmunoDeficiency Resource (IDR)

LAD1 patients have recurrent bacterial infections, impaired pus formation and impaired wound healing. Patients have a history of delayed separation of the umbilical cord, severe periodontitis, often with early tooth decay, and recurrent infections of the oral and genital mucosa, skin, and intestinal and respiratory tract. The bacterial infections are localized and difficult to detect until they have progressed to an extensive life-threatening level. Typical infections are omphalitis, perirectal and labial cellulitis, associated with extreme neutrophilia, otitis media with minimal inflammation, and other necrotic skin infection. The most common infectious agents are Staphylococcus species, gram-negative bacteria and fungal organisms (candida species). Infected foci contain few neutrophils and heal slowly, with enlarging borders and dysplastic scars. Severe gingivitis and periodontitis are major features among all patients who survive infancy. The severity of clinical infections complications is related to the degree of CD18 deficiency. Patients with less than 1% of the normal CD18 surface expression have a severe form of disease with earlier, more frequent, and more serious episodes of infection, often leading to death in infancy. Patients with some surface expression of CD18 (2,5-10%) have a moderate to mild phenotype with fewer serious infections and survival into adulthood.