Peripheral blood mononuclear cell subsets in patients with severe inherited forms of epidermolysis bullosa

Epidermolysis bullosa (EB) is a group of inherited disorders in which slight trauma to the skin results in blister formation. Patients with severe types of EB suffer cutaneous infections that sometimes progress to septicemia and cutaneous and gastrointestinal carcinomas that are locally aggressive and frequently metastasize. Previous studies have shown deficits in natural killer (NK) cell activity as well as in lymphokine and monokine production in patients with severe forms of EB. Alterations in peripheral blood mononuclear cells, however, which may reflect on immune functions in patients with EB, have received little attention. A prospective study was designed to ascertain if differences existed between subsets of peripheral blood mononuclear cells in patients with severe forms of EB vs healthy control subjects. Thirty patients with clinical and histologic diagnoses of EB and 30 healthy volunteers were studied. Flow cytometric analysis of labeled cells was performed.

Absolute numbers of CD3+, CD2+, CD4+, CD19+, NK+, CD29+, and CD45R+ cells were lower in patients with severe types of EB in comparison with controls. The T cells showed decreased numbers of interleukin 2 receptors. An increase in numbers of CD20+, CD4+ CD8+, and CD4-CD8- cells was also observed in patients with severe types of EB.

Alterations in monocyte and lymphocyte subsets known to affect host immune response were observed in patients with severe forms of EB. Quantitative changes relative to controls included decreased total numbers of T cells with greater decreases in helper cells, decreased NK cells, and a diminished number of interleukin 2 receptors. Such changes have been associated previously with a lower resistance to infections and to neoplasia. The changes in subsets correlated with the severity of the cutaneous and extracutaneous disease in the patients with EB.