The Chediak-Higashi Syndrome: Continuous Suspension Cultures Derived From Peripheral Blood

Abstract

Abstract Long-term suspension cultures have been established from peripheral blood of a patient with the Chediak-Higashi syndrome and his father (a heterozygote). The cells in these lines were principally lymphoblastoid in appearance, synthesized immunoglobulins and interferon, and demonstrated a modest phagocytic capacity. Giant abnormal granules characteristic of the Chediak-Higashi syndrome were present in the Homozygous Lines, and abnormally large granules were also present in the Heterozygous Line. Histochemical and euchrysine supravital staining demonstrated the lysosomal nature of these granules. Striking Golgi zone prominence was present in the Heterozygous Line, and to a lesser extent, in the Homozygous Lines. The potential significance of the establishment of these unique lines for investigations of the Chediak-Higashi syndrome, the nature of the heterozygous state, and role of lysosomes in general is discussed.