Effect of Adenosine Deaminase Replacement Therapy on a Child of Adenosine Deaminase Deficiency with Severe Combined Immunodeficiency Disease

• Published in: The Tohoku Journal of Experimental Medicine Vol. 128; no. 3; pp. 251 - 258
• Main Authors: TSUCHIYA, SHIGERU, ARAI, NOBUHIRO, KUDO, MASAFUMI, KONNO, TASUKE, TADA, KEIYA, YOKOYAMA, SHINKICHI
• Format: Journal Article
• Language: English
• Published: Japan Tohoku University Medical Press 01-01-1979
• Subjects: Adenosine Deaminase - deficiency; Adenosine Deaminase - therapeutic use; Blood Transfusion; enzyme replacement therapy; Erythrocyte Transfusion; Humans; Immunologic Deficiency Syndromes - complications; Immunologic Deficiency Syndromes - therapy; Infant; Leukocyte Count; Lymphocyte Activation; Lymphocytes - pathology; Nucleoside Deaminases - deficiency; severe combined immunodeficiency
• ISSN: 0040-8727; 1349-3329
• DOI: 10.1620/tjem.128.251

Enzyme replacement therapy was performed for a 1-year and 5-month old boy with adenosine deaminase deficiency disease, the first case in Japan. Irradiated fresh red blood cells were administered without any clinical improvement, but there was an increase in the peripheral lymphocytes from 300/mm3 to 1849 /mm3, of which 88% had T cell marker. B lymphocytes did not bear any classes of surface immunoglobulins. The proliferative responses of these lymphocytes to phytohemagglutinin, concanavalin A, pokeweed mitogen and allogeneic cells were examined. More than two-fold increase in response to these mitogens was observed in lymphocytes after treatment as compared with responsiveness before treatment, but these responses still remained to a much lesser degree than that of lymphocytes from controls.