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August 8, 1977

Medical News

JAMA. 1977;238(6):461-469. doi:10.1001/jama.1977.03280060005001

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Cell organelle defects again associated with genetic disease  A new understanding of and possible treatment for Chédiak-Higashi syndrome (CHS) has resulted from recent synergistic research efforts of several laboratories. A cell organelle defect appears to be involved.The syndrome, a rare autosomal recessive disease, is characterized by the presence of giant lysosomes in granule-containing leukocytes. The patients are highly susceptible to infection, which usually results in death during childhood, often following an accelerated lymphoma-like phase of the disease. During the early 1970s, research in the laboratory of Sheldon Wolff, MD, then at the National Institute of Allergy and Infectious Diseases (NIAID), demonstrated that the clinical symptoms of CHS result from impaired chemotaxis of leukocytes and their reduced ability to kill phagocytized bacteria. The treatment currently under trial—ascorbic acid administration—evolved in an intriguing way from research into the basis of these leukocyte dysfunctions.According to Janet Oliver, PhD, of the