Increase in T cells bearing the gamma/delta receptor associated with lymphoproliferative disease of granular lymphocytes in an infant with intractable diarrhea

A two-year-old infant with intractable diarrhea and lymphoproliferative disease of granular lymphocytes attributed to a persistent cytomegalovirus infection showed an increase in cells bearing the gamma/delta T-cell receptor (TCR), which accounted for approximately 20% of total peripheral blood lymphocytes and 40% of CD3+ T cells. Of the gamma/delta TCR+ cells, two-thirds were double negative (CD4–/CD8–) and the other one-third CD8 positive. The majority of gamma/ delta + cells were delta TCS 1 positive. The predominance of delta TCS 1 positive cells was also confirmed on biopsy of lymphoid tissues from the colon. After improvement of watery diarrhea and malnutrition following three-month hyperalimentation, the number of gamma/delta TCR+ cells decreased. The patient subsequently died of pneumonia at the age of 2 years and 11 months. A possible site-specific role for the gamma/delta TCR + cells, particularly delta TCS 1 + cells, in the human intestine is discussed.