Blood Journal
Leading the way in experimental and clinical research in hematology

Congenital Agranulocytosis: Prolonged Survival and Terminal Acute Leukemia

  1. PRISCILLA A. GILMAN, M.D., Assistant Professor of Pediatrics,
  2. DUDLEY P. JACKSON, M.D., Associate Professor of Medicine, and
  3. HARRIET G. GUILD, M.D., Associate Professor (Emeritus) of Pediatrics
  1. Departments of Medicine and Pediatrics of The Johns Hopkins University School of Medicine and Hospital, Baltimore, Md.
  2. University of Maryland, Baltimore, Md. formerly USPHS Postdoctoral Fellow, Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Md.
  3. The Johns Hopkins University School of Medicine, Baltimore, Md. This investigation was supported in part by Graduate Training Grant TI AM-5260 and Research Career Program Atvard AM-K3-3779 to Dr. Jackson from The National Institute of Arthritis and Metabolic Diseases.
  4. The Johns Hopkins University School of Medicine, Baltimore, Md.

Abstract

Three unrelated, Caucasian patients with a disorder resembling infantile genetic agranulocytosis have been studied. There was no history of consanguinity. Parents and siblings were normal. Onset occurred before 3 weeks of age and persisted throughout life. All had severe neutropenia, myeloid arrest pattern of the bone marrow, eosinophilia, monocytosis and hyperglobulinemia. Other congenital anomalies were not present. Their clinical courses were characterized by recurrent, severe bacterial infections particularly of the skin, mouth and lungs but without bacteremia. The infections responded to, but were not prevented by antibiotics, which were administered almost continuously. Fungal infections did not occur and viral infections were not severe. Splenectomy and corticosteroids were without apparent benefit. Relative, though transient, neutrophilia occurred during a few episodes of infection. Chromosome analysis was normal in two of the patients. In one, maturation of neutrophilic leukocytes was not observed in cultures of bone marrow to which normal serum or cysteine was added. One boy is living at 14 10/12 years of age, and one died at 13¾ years of disseminated infection. A unique occurrence was the development of terminal acute leukemia (monocytic) in the third patient, a girl at the age of 14¼ years.

  • Submitted April 1, 1970.
  • Revision received May 20, 1970.
  • Accepted May 27, 1970.